Genetics & Genomics
DNA Labs India | Diagnostic Tests
Genetics & Genomics
Clinical Overview
Primary medical category for Genetics & Genomics
| Reviewed by: Dr. Rajesh Kumar, MD Pathology | ISO 9001:2015 Certified Laboratory
This content is for educational purposes only. Always consult a qualified healthcare provider for medical advice.
Subcategories
General Oncology
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Molecular Diagnostics & DNA Testing
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Diabetes Diagnostics
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Bone & Joint Disorders
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Cancer Genetics & Genomics
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Drug Response & Monitoring
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Routine & Wellness Checks
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Respiratory Diagnostics
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General Pediatric Diagnostics
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Metabolic Disorders
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General Nephrology & Urology
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General Neurology
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Fertility & Andrology
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Breast Cancer
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Transplant Immunology & HLA
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Cytogenetics & Chromosomal
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Prenatal & Maternal Diagnostics
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Women's Health & Gynecology
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Audiology & ENT
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General Hematology
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Hematologic Oncology
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General Reproductive Health
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Carrier Screening
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Neurodegenerative Diseases
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General Endocrinology
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General Immunology & Serology
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Autoimmune Diseases
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General Gastroenterology
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STI & HIV
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Neurogenetics
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Liver & Hepatology
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Ophthalmology
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Cardiogenetics
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Cardiovascular Markers & Disease
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Coagulation & Thrombosis
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General Dermatology
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Sensory Genetics
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Psychiatry & Mental Health
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Neurodevelopmental & Autism
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Rare Disease Diagnostics
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Lipid Profiles
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NGS & Advanced Sequencing
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General Infectious Diseases
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Thyroid Function
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Pediatric Genetics
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Culture & Susceptibility
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Anemia & Hemoglobinopathies
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Environmental / Forensics / Veterinary
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Virology
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Laboratory Operations & Prep
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Vitamins, Minerals & Wellness
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Clinical Chemistry Panels
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Gastrointestinal Genetics
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COVID-19
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Metabolic & Mitochondrial Genetics
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Skeletal Genetics
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Respiratory Genetics
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Dermatogenetics
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Dental Diagnostics
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8 tests →
Reproductive Endocrinology
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Mycology
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All Tests
DPD Gene Mutations (5-FU Toxicity) Detection Test
To detect mutations in the DPD gene that increase the risk of severe toxicity from 5-fluorouracil (5...
T-Cell Gene Rearrangement Mutation Detection Test
This assay is useful to diagnose a lymphoma, monitor the progress of treatment of lymphoma, and meas...
5-Fluorouracil (5FU) Toxicity Test
The primary purpose of the 5FU Toxicity Test is to detect DPYD gene polymorphisms that cause partial...
BCR-ABL Gene Rearrangement PCR Qualitative Test
To qualitatively detect the BCR-ABL gene rearrangement for diagnosing and monitoring chronic myeloid...
CALR Mutation Detection Test
The primary purpose of the CALR Mutation Detection Test is to diagnose myeloproliferative neoplasms...
Cancer Targeted Gene Panel: Lung Test
The purpose of this test is to analyze specific genes and mutations associated with lung cancer, suc...
Chromosome Analysis Philadelphia Test
The primary purpose of the Chromosome Analysis Philadelphia Test is to identify the presence of the...
C-KIT Mutation Detection PCR Test
To detect mutations in the C-KIT gene for early diagnosis of associated cancers, inform prognosis, a...
FISH - ALK-1 Breakapart Rearrangement Test
To detect ALK gene rearrangement in cancer cells for accurate diagnosis and treatment planning in no...
FISH - BCR / ABL or Philadelphia Translocation Test
To diagnose Chronic Myelogenous Leukemia (CML) and other leukemias associated with the Philadelphia...
FISH - MET (7q31) Amplification Test
The purpose of the FISH - MET (7q31) Amplification Test is to identify amplifications in the MET gen...
FISH - MDS Panel - Chromosomes 5q, 7q, 8q & 20q Test
The primary purpose of the FISH MDS Panel is to identify recurrent chromosomal abnormalities associa...
FISH - RARA (17q21) Variant Translocation Test
The purpose of this test is to detect variant RARA gene translocations that are not identified by st...
Genetic Mapping for Oncology / Cancer Test
The purpose of genetic mapping for oncology is to detect inherited genetic mutations that elevate ca...
Imatinib Resistance Mutation Analysis IRMA Test
The primary purpose of the IRMA test is to identify genetic mutations that confer resistance to Imat...
Inv16 (p13q22) / t(1616)(p13q22) Gene Rearrangement Qualitative PCR Test
The primary purpose of the Inv16 gene rearrangement qualitative PCR test is to detect the presence o...
JAK 2 Mutation Detection Qualitative PCR Test
The primary purpose of the JAK2 Mutation Detection Qualitative PCR Test is to detect the presence or...
JAK 2 V617F CALR & MPL Mutation Detection Profile Test
This test is ordered to detect the presence of JAK2 V617F, CALR, or MPL gene mutations, which are ha...
Medullary Thyroid Carcinoma Mutation Detection Test
The purpose of this test is to detect mutations in the RET gene to identify individuals at high risk...
NPM1 Gene Mutation Test
To detect mutations in the NPM1 gene associated with acute myeloid leukemia for diagnosis, prognosis...
Nx Gen Sequencing: Hereditary Retinoblastoma Test
The purpose of the Nx Gen Sequencing test for hereditary retinoblastoma is to identify pathogenic mu...
Oncomine Chronic Myelomonocytic Leukaemia (CMML) Panel Test
The purpose of the Oncomine CMML Panel Test is to identify genetic mutations and fusion genes in pat...
Oncomine Myelodysplastic Syndrome (MDS) Panel Test
The purpose of this test is to identify genetic mutations in patients suspected of having myelodyspl...
Oncopro Comprehensive Cancer Panel: 161 Genes Test
This test is useful for elucidation of various mutations, copy number variations, gene fusions, and...
Oncomine Comprehensive Myeloid Panel Test
The primary purpose of the Oncomine Comprehensive Myeloid Panel Test is to identify somatic mutation...
Oncomine Juvenile Myelomonocytic Leukaemia (JMML) Panel Test
The primary purpose of the Oncomine JMML Panel Test is to detect pathogenic or likely pathogenic mut...
Oncopro Hereditary Cancer Risk Panel (Screens 200 Genes) Test
To screen for genetic mutations in 200 genes that increase the risk of hereditary cancers, based on...
t(11;19) (q23;p13.3) TCF3-BX1(E2A-PBX1) PCR Qualitative Test
To detect the presence of the TCF3-BX1 fusion gene for the diagnosis and management of leukemia and...
CACNA1S Gene Malignant hyperthermia type 5 NGS Genetic Test
The purpose of the CACNA1S Gene Malignant Hyperthermia Type 5 NGS Genetic Test is to diagnose malign...
BRIP1 Gene Fanconi anemia type J NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Fanconi Anemia Type J by identifying mutations...
EXT1 Gene Chondrosarcoma, familial NGS Genetic Test
To detect mutations in the EXT1 gene associated with familial chondrosarcoma, aiding in diagnosis, r...
chr. 11p15 Gene Beckwith-Wiedemann syndrome NGS Genetic Test
To diagnose Beckwith-Wiedemann Syndrome by identifying genetic mutations in the chr. 11p15 gene, ass...
PTCH2 Gene Basal cell nevus syndrome due to germline PTCH2 mutation NGS Genetic Test
The purpose of the PTCH2 Gene Basal Cell Nevus Syndrome NGS Genetic Test is to detect germline mutat...
DNMT3A Gene Acute myeloid leukemia, somatic, DNMT3A related NGS Genetic Test
To identify DNMT3A gene mutations in AML patients for diagnosis, prognosis assessment, and personali...
Colon Cancer comprehensive panel NGS Genetic Test
The purpose of the Colon Cancer Comprehensive Panel NGS Genetic Test is to detect genetic mutations...
OncoDx panel NGS Genetic Test
To identify genetic mutations in cancer cells for accurate diagnosis, staging, and personalized trea...
SUFU Gene Basal cell nevus syndrome NGS Genetic Test
To diagnose Basal Cell Nevus Syndrome by detecting mutations in the SUFU gene using next-generation...
BRAF Gene BRAF, selective sequencing of exon 15 NGS Genetic Test
The purpose of this test is to identify mutations in exon 15 of the BRAF gene, which are critical fo...
PALB2 Gene Breast cancer, susceptibility to NGS Genetic Test
To identify mutations in the PALB2 gene that increase susceptibility to breast and ovarian cancer, e...
RAD51D Gene Breast-ovarian cancer, familial, susceptibility to, type 4 NGS Genetic Test
To detect mutations in the RAD51D gene that increase susceptibility to breast and ovarian cancer, en...
KCNQ1OT1 Gene Beckwith-Wiedemann syndrome NGS Genetic Test
The purpose of this test is to identify mutations or epigenetic alterations in the KCNQ1OT1 gene to...
RECQL Gene Breast cancer, susceptibility to NGS Genetic Test
The purpose of the RECQL Gene Breast Cancer Susceptibility NGS Genetic Test is to identify mutations...
PRKAR1A Gene Carney complex type 1 NGS Genetic Test
To detect mutations in the PRKAR1A gene for accurate diagnosis of Carney Complex Type 1, enabling ea...
SDHD Gene Carcinoid tumors, intestinal NGS Genetic Test
To detect mutations in the SDHD gene that increase the risk of intestinal carcinoid tumors for early...
RAD51C Gene Breast-ovarian cancer NGS Genetic Test
The purpose of the RAD51C Gene Breast-Ovarian Cancer NGS Genetic Test is to detect mutations in the...
RINT1 Gene Breast cancer, RINT1 related NGS Genetic Test
The purpose of the RINT1 Gene Breast Cancer NGS Genetic Test is to identify mutations in the RINT1 g...
CDC20 Gene Cell cycle disorder, CDC20 related NGS Genetic Test
To diagnose CDC20-related cell cycle disorders, assess cancer risk, and guide personalized treatment...
MSH6 Gene Colorectal cancer, hereditary nonpolyposis type 5 NGS Genetic Test
To identify mutations in the MSH6 gene associated with Hereditary Nonpolyposis Colorectal Cancer Typ...
MLH1 Gene Colorectal cancer, hereditary nonpolyposis type 2 NGS Genetic Test
The purpose of the MLH1 Gene NGS Genetic Test is to identify mutations in the MLH1 gene that cause h...
NRAS Gene Colorectal cancer, hereditary NGS Genetic Test
To identify mutations in the NRAS gene associated with hereditary colorectal cancer, enabling risk a...
EPCAM Gene Colorectal cancer, hereditary nonpolyposis type 8 NGS Genetic Test
The purpose of the EPCAM Gene NGS Genetic Test is to detect mutations in the EPCAM gene and other ge...
PMS2 Gene Colorectal cancer, hereditary nonpolyposis type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic mutations in the PMS2 gene, wh...
MSH2 Gene Colorectal cancer, hereditary nonpolyposis type 1 NGS Genetic Test
The purpose of the MSH2 Gene NGS Genetic Test is to identify pathogenic mutations in the MSH2 gene t...
AKT1 Gene Cowden syndrome type 6 NGS Genetic Test
The purpose of the AKT1 Gene Cowden Syndrome Type 6 NGS Genetic Test is to detect mutations in the A...
MLH3 Gene Colorectal cancer, hereditary nonpolyposis type 7 NGS Genetic Test
The purpose of this test is to identify mutations in the MLH3 gene that are linked to hereditary col...
TGFBR2 Gene Colorectal cancer, hereditary nonpolyposis type 6 NGS Genetic Test
The purpose of the TGFBR2 Gene NGS Genetic Test is to identify pathogenic mutations in the TGFBR2 ge...
PIK3CA Gene Cowden syndrome type 5 NGS Genetic Test
To diagnose Cowden Syndrome Type 5 by detecting mutations in the PIK3CA gene using Next-Generation S...
CCND1 Gene Colorectal cancer, hereditary, susceptibility to NGS Genetic Test
The purpose of this test is to identify mutations in the CCND1 gene and other associated genes to as...
APC Gene Desmoid disease, hereditary NGS Genetic Test
The purpose of this test is to identify mutations in the APC gene that increase the risk of heredita...
SDHD Gene Cowden syndrome type 3 NGS Genetic Test
The SDHD Gene Cowden Syndrome Type 3 NGS Genetic Test is performed to identify mutations in the SDHD...
APC Gene Familial adenomatous polyposis coli NGS Genetic Test
The purpose of the APC Gene FAP NGS Genetic Test is to detect mutations in the APC gene that cause f...
RB1 Gene Hereditary Retinoblastoma NGS Genetic Test
The purpose of the RB1 Gene Hereditary Retinoblastoma NGS Genetic Test is to detect mutations in the...
NTHL1 Gene Familial adenomatous polyposis type 3 NGS Genetic Test
The purpose of the NTHL1 Gene FAP Type 3 NGS Genetic Test is to identify mutations in the NTHL1 gene...
EGFR Gene EGFR, selective sequencing of exons 18-21 NGS Genetic Test
The purpose of this test is to identify mutations in exons 18-21 of the EGFR gene, which are critica...
MUTYH Gene Familial adenomatous polyposis type 2 NGS Genetic Test
The purpose of the MUTYH Gene FAP Type 2 NGS Genetic Test is to identify pathogenic mutations in the...
MSH3 Gene Familial adenomatous polyposis type 4 NGS Genetic Test
To identify pathogenic mutations in the MSH3 gene for the diagnosis of Familial Adenomatous Polyposi...
IDH1 Gene IDH1, selective sequencing of exon 4 NGS Genetic Test
The purpose of the IDH1 Gene Exon 4 Sequencing Test is to detect mutations in exon 4 of the IDH1 gen...
RAD50 Gene Hereditary breast and ovarian cancer syndrome, RAD50 related NGS Genetic Test
The purpose of the RAD50 Gene NGS Genetic Test is to detect mutations in the RAD50 gene that are lin...
ANTXR1 Gene Hemangioma capillary infantile NGS Genetic Test
The purpose of this test is to identify mutations or alterations in the ANTXR1 gene that may be link...
JAK2 Gene JAK2, selective sequencing of exons 12, 14 and 16 NGS Genetic Test
To identify mutations in exons 12, 14, and 16 of the JAK2 gene for diagnosing myeloproliferative neo...
KDR Gene Hemangioma, capillary infantile, familial, susceptibility to NGS Genetic Test
The purpose of the KDR Gene Hemangioma NGS Genetic Test is to identify genetic mutations in the KDR...
IDH2 Gene IDH2, selective sequencing of exon 4 NGS Genetic Test
To identify mutations in exon 4 of the IDH2 gene using NGS technology for diagnosis, risk assessment...
CBL Gene Juvenile myelomonocytic leukemia, due to CBL germline mutation NGS Genetic Test
The purpose of the CBL Gene JMML NGS Genetic Test is to detect germline mutations in the CBL gene th...
SMAD4 Gene Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NGS Genetic Test
To diagnose individuals at risk for Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrom...
RUNX1 Gene Leukemia, acute myeloid NGS Genetic Test
To identify mutations in the RUNX1 gene for diagnosis and personalized treatment of acute myeloid le...
PTPN11 Gene Leukemia, juvenile myelomonocytic NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the PTPN11 gene that cause juvenile...
EZH2 Gene Leukemia, lymphoblastic and myeloid, EZH2 related NGS Genetic Test
To detect mutations in the EZH2 gene that are associated with lymphoblastic and myeloid leukemia, ai...
CEBPA Gene Leukemia, acute myeloid, somatic NGS Genetic Test
The purpose of the CEBPA gene NGS test is to detect somatic mutations in the CEBPA gene associated w...
SMAD4 Gene Juvenile polyposis syndrome NGS Genetic Test
The purpose of the SMAD4 Gene Juvenile Polyposis Syndrome NGS Genetic Test is to identify mutations...
MC1R Gene Melanoma, cutaneous malignant NGS Genetic Test
To detect variations in the MC1R gene that may increase the risk of developing cutaneous malignant m...
CDK4 Gene Melanoma, cutaneous malignant, familial, CDK4 related NGS Genetic Test
To identify mutations in the CDK4 gene associated with familial melanoma, enabling early risk assess...
XRCC3 Gene Melanoma, cutaneous malignant, familial type 6, susceptibility to NGS Genetic Test
To identify mutations in the XRCC3 gene that increase the risk of developing familial melanoma, enab...
CDKN2A Gene Melanoma, cutaneous malignant, familial NGS Genetic Test
The purpose of this test is to detect mutations in the CDKN2A gene that are associated with an incre...
MITF Gene Melanoma, cutaneous malignant NGS Genetic Test
The purpose of this test is to detect mutations in the MITF gene that are associated with an increas...
POT1 Gene Melanoma, cutaneous malignant, familial type 10, susceptibility to NGS Genetic Test
The purpose of this test is to detect mutations in the POT1 gene that increase susceptibility to fam...
PDGFB Gene Meningioma, familial, PDGFB related NGS Genetic Test
The purpose of the PDGFB Gene Meningioma NGS Genetic Test is to identify mutations in the PDGFB gene...
SMARCE1 Gene Meningioma, familial, susceptibility to NGS Genetic Test
To identify mutations in the SMARCE1 gene for early detection, diagnosis, and management of familial...
MN1 Gene Meningioma, MN1 deficiency related NGS Genetic Test
The purpose of this test is to detect mutations or deficiencies in the MN1 gene using NGS technology...
SUFU Gene Meningioma, familial, susceptibility to NGS Genetic Test
To identify genetic mutations in the SUFU gene that increase the risk of developing familial meningi...
MSH2 Gene Mismatch repair cancer syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the MSH2 gene that cause mismatch repair cancer...
MSH6 Gene Mismatch repair cancer syndrome NGS Genetic Test
To identify mutations in the MSH6 gene associated with mismatch repair cancer syndrome for risk asse...
MLH1 Gene Mismatch repair cancer syndrome NGS Genetic Test
The purpose of the MLH1 Gene Mismatch Repair Cancer Syndrome NGS Genetic Test is to detect mutations...
PMS2 Gene Mismatch repair cancer syndrome NGS Genetic Test
To identify mutations in the PMS2 gene for assessing hereditary cancer risk, guiding preventive care...
MMR genes Gene MMR genes methylation analysis NGS Genetic Test
To detect methylation changes in MMR genes for assessing cancer risk, aiding in early diagnosis, gen...
MLH1 Gene Muir-Torre syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the MLH1 gene that cause Muir-Torre syndrome an...
TET2 Gene Myelodysplastic syndrome, somatic NGS Genetic Test
The purpose of the TET2 Gene Myelodysplastic Syndrome NGS Genetic Test is to identify somatic mutati...
JAK2 Gene Myelofibrosis, somatic NGS Genetic Test
The purpose of this test is to identify somatic mutations in the JAK2 gene associated with myelofibr...
NF2 Gene Neurofibromatosis type 2 NGS Genetic Test
To detect mutations in the NF2 gene for diagnosis of Neurofibromatosis type 2, aiding in clinical ma...
NF1 Gene Neurofibromatosis type 1 NGS Genetic Test
The purpose of the NF1 Gene Neurofibromatosis Type 1 NGS Genetic Test is to identify mutations in th...
NRAS Gene NRAS, selective sequencing of exons 2 and 3 NGS Genetic Test
To identify mutations in exons 2 and 3 of the NRAS gene, which are associated with an increased risk...
SDHD Gene Paraganglioma and gastric stromal sarcoma NGS Genetic Test
The purpose of this test is to detect mutations in the SDHD gene that may indicate a predisposition...
SDHD Gene Paragangliomas type 1, with or without deafness NGS Genetic Test
To identify mutations in the SDHD gene for the diagnosis of Paragangliomas Type 1, with or without d...
SDHB Gene Paragangliomas type 4 NGS Genetic Test
To identify mutations in the SDHB gene that cause paragangliomas type 4, aiding in diagnosis, risk a...
CDKN2A Gene Pancreatic cancer/melanoma syndrome, familial NGS Genetic Test
The purpose of the CDKN2A Gene Pancreatic Cancer/Melanoma Syndrome NGS Genetic Test is to identify m...
SDHAF2 Gene Pheochromocytoma type 5 NGS Genetic Test
The purpose of this test is to identify mutations in the SDHAF2 gene for early detection and managem...
TMEM127 Gene Pheochromocytoma type 8 NGS Genetic Test
The purpose of the TMEM127 Gene Pheochromocytoma type 8 NGS Genetic Test is to identify mutations in...
SDHB Gene Pheochromocytoma type 2 NGS Genetic Test
To identify mutations in the SDHB gene that are associated with Pheochromocytoma type 2, enabling ea...
SDHD Gene Pheochromocytoma type 1 NGS Genetic Test
To identify mutations in the SDHD gene for diagnosis, risk assessment, and management of Pheochromoc...
MAX Gene Pheochromocytoma type 9 NGS Genetic Test
To identify genetic mutations in the MAX gene that cause pheochromocytoma type 9, aiding in diagnosi...
5-Flurouracil (5-FU) Toxicity and Chemotherapeutic Response (DPYD Variants)
To identify DPYD gene variants that affect the metabolism of 5-fluorouracil, helping to predict toxi...
MET Gene Renal cell carcinoma, papillary type 1, familial NGS Genetic Test
To detect pathogenic mutations in the MET gene associated with familial papillary renal cell carcino...
RNASEL Gene Prostate cancer, hereditary type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the RNASEL gene, specifically the R462Q mutation,...
BRAF Mutation Analysis (V600E)
The purpose of BRAF Mutation Analysis (V600E) is to identify the presence of the BRAF V600E mutation...
CBFB-MYH11[Inv(16)] Qualitative
The primary purpose of the CBFB-MYH11[Inv(16)] Qualitative Test is to confirm the diagnosis of AML w...
cKIT Mutation Screening (Exons 9, 11, 13, 17) Gastrointestinal Stromal Tumors
The purpose of cKIT mutation screening is to detect mutations in exons 9, 11, 13, and 17 of the cKIT...
CEBPA Full Gene Mutation Analysis
The purpose of CEBPA Full Gene Mutation Analysis is to detect mutations in the CEBPA gene, which are...
cKIT Mutation Screening (Exons 9, 11, 13, 17) AML
The purpose of cKIT mutation screening is to detect specific genetic mutations in the cKIT gene that...
Chronic Neutrophilic Leukemia (CNL)(CSF3R Gene - Exon 14 & 17; SETBP Gene - Exon 4)
The purpose of this genetic test is to identify specific mutations in the CSF3R and SETBP genes asso...
Comprehensive Hereditary Cancer Panel (154 Genes)
To identify genetic mutations associated with hereditary cancer syndromes for risk assessment and pr...
CXCR4 Gene Mutation Analysis
The purpose of CXCR4 gene mutation analysis is to detect mutations in the CXCR4 gene, which can help...
EWSR1 Gene (Ewing's Sarcoma)
The purpose of EWSR1 gene testing is to identify genetic alterations, specifically EWSR1 gene fusion...
FLT3/ITD Allelic Ratio
The primary purpose of the FLT3/ITD Allelic Ratio Test is to identify the presence and quantify the...
HBOC Extended Panel [Hereditary Breast And Ovarian Cancer] (32 Genes)
The purpose of the HBOC Extended Panel test is to identify inherited mutations in 32 genes linked to...
Iamp (21)
To detect abnormalities in chromosome 21 for diagnosing genetic disorders such as Down syndrome, Edw...
IDH1 & IDH2 Mutation Analysis
The purpose of IDH1 & IDH2 mutation analysis is to diagnose mutations in the IDH1 and IDH2 genes, wh...
IGVH Mutation Load
The purpose of the IGVH Mutation Load Test is to assess the mutation status of the IGVH gene, which...
Irnotecan Toxicity Assessment (UGT1A1 Genotyping)/ Gilbert Syndrome
To assess the risk of irnotecan toxicity in patients undergoing chemotherapy and to identify individ...
KRAS,NRAS
The purpose of KRAS and NRAS gene testing is to identify mutations in these oncogenes, which are cru...
DNA Genetic Methylation Test
To determine the methylation status of the MGMT promoter gene for prognosis in glioblastoma and to a...
Microsatellite Instability (Lynch Syndrome/Colorectal Cancer)
To detect microsatellite instability for the diagnosis of Lynch Syndrome and to assess the risk and...
Multiplex Panel (Cytogenetics & PCR for 28 translocations & 80 breakpoints) (CML, AML, ALL)
The purpose of this Multiplex Panel is to detect 28 different translocations and 80 breakpoints link...
Myeloproliferative Leukemia Mutation Screening (MPL - S505N; W515L)
The purpose of this test is to detect specific mutations in the MPL gene, namely S505N and W515L, wh...
MYD88 Gene Mutation Analysis
To detect mutations in the MYD88 gene for the diagnosis and management of associated diseases such a...
NGS Homologous Recombinant Deficiency [HRR] Panel
To detect homologous recombination deficiency (HRR) mutations associated with increased cancer risk...
Nervous System Cancer Gene Panel
To identify genetic mutations in genes linked to nervous system cancers, aiding in diagnosis, progno...
NGS TP53 Mutation Analysis
The purpose of NGS TP53 Mutation Analysis is to identify pathogenic variants in the TP53 gene that m...
NPM1 Gene Fragment Analysis
The purpose of NPM1 Gene Fragment Analysis is to identify mutations in the NPM1 gene, which are biom...
NRAS Mutation Analysis (Codons 12 & 13)
The purpose of NRAS Mutation Analysis (Codons 12 & 13) is to identify specific genetic mutations in...
NPM1 Mutation Analysis (Exon 12 Insertion)
To detect NPM1 gene mutations for AML diagnosis and prognosis, aiding in treatment decisions and ris...
MLL t(4;11)(q21;q23) Qualitative
The purpose of the MLL t(4;11)(q21;q23) qualitative test is to detect the presence of the chromosoma...
NPM1+FLT3+CEBPA
The purpose of the NPM1+FLT3+CEBPA genetic test is to identify mutations in the NPM1, FLT3, and CEBP...
Oncomine Comprehensive Plus Panel
The purpose of the Oncomine Comprehensive Plus Panel is to provide detailed genetic profiling of can...
Oncomine Tumor Mutation Burden (TMB)
The purpose of the Oncomine TMB test is to predict the response of cancer patients to immunotherapy...
Oncomine Lung cfTNA Cancer Panel
To detect lung cancer-related genetic mutations in circulating tumor DNA (ctDNA) from blood, aiding...
Oncomine Myeloid Panel [MDS,MPN,AML,CML,CMML,JMML]
The purpose of the Oncomine Myeloid Panel is to detect genetic mutations associated with myeloid mal...
Pancreatic Mutation Panel
The purpose of the Pancreatic Mutation Panel test is to detect inherited genetic mutations linked to...
PDGFR + cKIT (Gastrointestinal Stromal Tumors)
The purpose of PDGFR + cKIT testing is to identify mutations in the PDGFR and cKIT genes associated...
PDGFR Mutation Screening (Exons 12, 14, 18)
The purpose of PDGFR mutation screening is to detect mutations in exons 12, 14, and 18 of the PDGFR...
PIK3CA Mutation Analysis (Exon 7, 9 & 20)
The purpose of PIK3CA Mutation Analysis is to identify genetic mutations in the PIK3CA gene that may...
PML/RARA Qualitative [BCR 1 & 3]
To detect the PML/RARA fusion gene for diagnosing Acute Promyelocytic Leukemia (APL).
PIK3CA by NGS
The purpose of the PIK3CA by NGS test is to identify mutations in the PIK3CA gene, which are associa...
Pediatric ALL Panel - Karyotyping + MLPA Deletion/Duplication + FISH Panel
The purpose of the Pediatric ALL Panel is to detect and characterize the genetic abnormalities assoc...
Replication Factor C1 Mutation Screening (RFC1 - 80G>A)
To screen for the RFC1-80G>A mutation to assess the risk of developing breast, ovarian, colorectal,...
Sarcoma Gene Panel
The purpose of the Sarcoma Gene Panel is to identify genetic mutations that increase the risk of sar...
RUNX1-RUNX1T1 (AML1- ETO) t(8;21) Quantitative
The RUNX1-RUNX1T1 Quantitative Test is performed to detect and measure the level of the RUNX1-RUNX1T...
TEL/AML1 Qualitative
The purpose of the TEL/AML1 qualitative test is to identify the genetic abnormality responsible for...
TEL/AML1 Quantitative
To detect and quantify the TEL/AML1 fusion gene for diagnosing TEL/AML1-positive acute lymphoblastic...
BCR/ABL Minor Quantitative Test
The purpose of the BCR/ABL Minor Quantitative Test is to detect and measure the BCR/ABL fusion gene...
FISH - Follicular Lymphoma (IGH/BCL2) t(14;18) Test
The test detects the IGH/BCL2 t(14;18) translocation by FISH to confirm the diagnosis of follicular...
Comprehensive Hereditary Cancer Panel (190 Genes) Test
This 190-gene panel helps identify inherited pathogenic variants that increase the risk of hereditar...
PIK3CA Mutation Analysis Test
The purpose of this test is to identify mutations in the PIK3CA gene from tumor tissue. This informa...
WT-1 Mutation Detection Test
The primary purpose of the WT-1 mutation detection test is to detect germline mutations in the WT1 g...
ATR Gene Cutaneous telangiectasia and cancer syndrome, familial NGS Genetic Test
To diagnose mutations in the ATR gene for Cutaneous Telangiectasia and Cancer Syndrome, Familial, ai...
MTAP Gene Diaphyseal medullary stenosis with malignant fibrous histiocytoma NGS Genetic Test
To identify mutations in the MTAP gene for diagnosis of diaphyseal medullary stenosis with malignant...
ERCC4 Gene Fanconi anemia, complementation group Q NGS Genetic Test
The purpose of this test is to detect mutations in the ERCC4 gene associated with Fanconi anemia, co...
RHBDF2 Gene Tylosis with esophageal cancer NGS Genetic Test
To identify pathogenic mutations in the RHBDF2 gene associated with tylosis and increased risk of es...
WT1 Gene Wilms tumor type 1, familial NGS Genetic Test
The purpose of this test is to detect mutations in the WT1 gene for early diagnosis of familial Wilm...
MDM2 Gene Accelerated tumor formation, susceptibility to NGS Genetic Test
To identify mutations in the MDM2 gene that increase susceptibility to accelerated tumor formation a...
PTCH1 Gene Basal cell nevus syndrome NGS Genetic Test
To diagnose Basal Cell Nevus Syndrome (Gorlin Syndrome) by detecting pathogenic mutations in the PTC...
FLCN Gene Birt-Hogg-Dube syndrome NGS Genetic Test
To detect pathogenic mutations in the FLCN gene for diagnosis, risk assessment, and management of Bi...
POLE Gene FILS syndrome NGS Genetic Test
To identify mutations in the POLE gene for diagnosing POLE Gene FILS Syndrome, assessing cancer risk...
ALK Gene Neuroblastoma type 3, susceptibility to, familial NGS Genetic Test
The purpose of this test is to identify germline mutations in the ALK gene that predispose to famili...
Breast Cancer BRCA1 BRCA2 Gene Test
The primary purpose of this test is to assess an individual's inherited risk of developing breast an...
CDH1 Gene Gastric cancer, hereditary diffuse NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the CDH1 gene that are associated wit...
NDUFA13 Gene Hurthle cell thyroid carcinoma, due to germline NDUFA13 mutation NGS Genetic Test
The purpose of this NGS genetic test is to identify germline mutations in the NDUFA13 gene that are...
KIT Gene Gastrointestinal stromal tumor, familial NGS Genetic Test
The primary purpose of this NGS genetic test is to detect inherited (germline) mutations in the KIT...
PAX5 Gene Leukemia, acute lymphoblastic, susceptibility to, due to PAX5 germline mutation NGS Genetic Test
The purpose of this NGS genetic test is to detect germline mutations in the PAX5 gene that increase...
KRAS Gene Leukemia, acute myelogenous NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the KRAS gene that are associated wit...
CEBPA Gene Leukemia, myeloid acute form, due to CEBPA germline mutation NGS Genetic Test
The purpose of this NGS genetic test is to detect germline mutations in the CEBPA gene that predispo...
KIT Gene Leukemia, acute myeloid NGS Genetic Test
The purpose of this test is to identify mutations in the KIT gene that are associated with acute mye...
TP53 Gene Li-Fraumeni syndrome type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the TP53 gene that are associated wi...
SUFU Gene Medulloblastoma, desmoplastic, familial NGS Genetic Test
The purpose of this test is to detect mutations in the SUFU gene that are associated with desmoplast...
CHEK2 Gene Li-Fraumeni syndrome type 2 NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the CHEK2 gene that are assoc...
RET Gene Multiple endocrine neoplasia type 2A NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the RET gene to confirm a diagn...
CDKN2A Gene Melanoma and neural system tumor syndrome, familial NGS Genetic Test
The purpose of this test is to identify mutations in the CDKN2A gene that predispose individuals to...
RET Gene Multiple endocrine neoplasia type 2B NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the RET gene that cause Multiple Endoc...
NPM1 Gene NPM1, selective sequencing of exon 11 NGS Genetic Test
The purpose of this test is to detect mutations in exon 11 of the NPM1 gene, which are frequently fo...
PDGFRA Gene PDGFRA, selective sequencing of exons 12, 14 and 18 NGS Genetic Test
The purpose of this test is to detect mutations in exons 12, 14, and 18 of the PDGFRA gene, which ar...
AIP Gene Pituitary adenoma, growth hormone-secreting, due to AIP germline mutation NGS Genetic Test
The purpose of this test is to confirm the diagnosis of growth hormone-secreting pituitary adenoma c...
AIP Gene Pituitary adenoma, prolactin-secreting, due to AIP germline mutation NGS Genetic Test
The purpose of this NGS genetic test is to identify germline mutations in the AIP gene that are asso...
JAK2 Gene Polycythemia vera, somatic NGS Genetic Test
The purpose of this test is to detect somatic mutations in the JAK2 gene that are associated with po...
DICER1 Gene Pleuropulmonary blastoma NGS Genetic Test
The primary purpose of this test is to identify pathogenic mutations in the DICER1 gene that increas...
HOXB13 Gene Prostate cancer, familial, association with NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the HOXB13 gene that are associated w...
HNF1A Gene Renal cell carcinoma, due to HNF1A germline mutation NGS Genetic Test
The purpose of this test is to identify germline mutations in the HNF1A gene that are associated wit...
ELAC2 Gene Prostate cancer, hereditary type 2, susceptibility to NGS Genetic Test
The purpose of this test is to identify mutations in the ELAC2 gene that increase the risk of heredi...
RET Gene RET, selective sequencing of exons 5, 8, 10, 11 and 13-16 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the RET gene that predispose individu...
CYLD Gene Spiegler-Brooke syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the CYLD gene that cause Spiegler-Br...
SRGAP1 Gene Thyroid cancer type 2, nonmedullary, susceptibility to NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the SRGAP1 gene that are associated w...
ARL11 Gene Tumor predisposition syndrome, ARL11 related NGS Genetic Test
The purpose of this test is to detect mutations in the ARL11 gene that are associated with tumor pre...
BAP1 Gene Tumor predisposition syndrome NGS Genetic Test
The primary purpose of this NGS genetic test is to detect pathogenic mutations in the BAP1 gene that...
RHBDF2 Gene Tylosis with esophageal cancer NGS Genetic Test
The primary purpose of this NGS genetic test is to identify mutations in the RHBDF2 gene that cause...
VHL Gene von Hippel-Lindau syndrome NGS Genetic Test
The purpose of the VHL Gene NGS Genetic Test is to confirm or rule out a diagnosis of Von Hippel-Lin...
E2A t(1;19)(q23;p13) Qualitative
The purpose of this test is to detect the E2A-PBX1 fusion gene resulting from the t(1;19) translocat...
Endocrine Cancer Gene Panel
The purpose of the Endocrine Cancer Gene Panel is to identify inherited genetic mutations that predi...
PML/RARA Quantitative Test
The primary purpose of the PML/RARA quantitative test is to detect the presence of the PML-RARA fusi...
Thyroid Prognostication NGS Panel
The primary purpose of the Thyroid Prognostication NGS Panel is to provide prognostic information fo...
Hereditary Cancer Panel
The purpose of the Hereditary Cancer Panel is to identify inherited genetic mutations that increase...
Predictive Genetic Testing for Cancer
The purpose of predictive genetic testing for cancer is to identify inherited genetic mutations that...
Ganciclovir Resistance Detection Test
To detect mutations in CMV that lead to resistance against Ganciclovir, aiding in the selection of a...
Biotinidase Newborn Screen Test
To detect biotinidase deficiency in newborns for early diagnosis and treatment, preventing health co...
Chromosome XON Microarray High Resolution Test
The primary purpose of the Chromosome XON Microarray High Resolution Test is to identify genetic abn...
Cystic Fibrosis Mutation Detection Test
To detect mutations in the CFTR gene for diagnosis of Cystic Fibrosis, carrier screening, and geneti...
CYP2C19 Genotyping Test
The primary purpose of the CYP2C19 Genotyping Test is to determine a patient's metabolizer status fo...
G6PD Gene Mutation Detection Test
This assay is used for the detection of mutations in the G6PD gene to diagnose G6PD deficiency, an X...
Haptoglobin Genotyping Test
The Haptoglobin Genotyping Test is performed to determine an individual's haptoglobin genotype, whic...
Hemochromatosis Detection HFE Genotyping Test
The purpose of the Hemochromatosis Detection HFE Genotyping Test is to detect mutations in the HFE g...
Newborn Screening Panel 5 Test
The primary purpose of the Newborn Screening Panel 5 Test is to screen for specific genetic and meta...
Nx Gen Sequencing: 4H Syndrome Test
The purpose of this test is to detect mutations in the POLR3A, POLR3B, and POLR1C genes to confirm a...
Thalassemia Beta Complete Gene Analysis with MCC Test
This assay is useful to check for uncommon mutations in the HBB gene associated with Thalassemia Bet...
FLNA Gene Frontometaphyseal dysplasia NGS Genetic Test
To identify pathogenic mutations in the FLNA gene for definitive diagnosis of Frontometaphyseal Dysp...
PIEZO2 Gene Marden-Walker syndrome NGS Genetic Test
The purpose of the PIEZO2 Gene Marden-Walker Syndrome NGS Genetic Test is to identify pathogenic mut...
OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance NGS Genetic Test
The purpose of the OPHN1 Gene NGS Genetic Test is to diagnose X-linked mental retardation with cereb...
CLCN4 Gene Raynaud-Claes syndrome NGS Genetic Test
The purpose of the CLCN4 Gene Raynaud-Claes Syndrome NGS Genetic Test is to diagnose Raynaud-Claes S...
SPG7 Gene SPG7 NGS Genetic Test
To identify pathogenic mutations in the SPG7 gene for the diagnosis of hereditary spastic paraplegia...
PEX26 Gene Zellweger syndrome NGS Genetic Test
To diagnose Zellweger syndrome by identifying mutations in the PEX26 gene using Next-Generation Sequ...
FANCE Gene Fanconi anemia type E NGS Genetic Test
The purpose of the FANCE Gene Fanconi Anemia Type E NGS Genetic Test is to detect mutations in the F...
FANCD2 Gene Fanconi anemia type D2 NGS Genetic Test
The primary purpose of the FANCD2 Gene Fanconi Anemia Type D2 NGS Genetic Test is to accurately diag...
FANCB Gene Fanconi anemia type B NGS Genetic Test
The purpose of the FANCB Gene Fanconi Anemia Type B NGS Genetic Test is to identify pathogenic or li...
FANCG Gene Fanconi anemia type G NGS Genetic Test
The primary purpose of the FANCG Gene Fanconi Anemia Type G NGS Genetic Test is to detect pathogenic...
FANCM Gene Fanconi anemia type M NGS Genetic Test
To diagnose Fanconi anemia type M by identifying pathogenic mutations in the FANCM gene using NGS te...
DPAGT1 Gene Glycosylation disorder type 1J NGS Genetic Test
To diagnose DPAGT1 Gene Glycosylation Disorder Type 1J through comprehensive genetic analysis using...
UCP2 Gene Hyperinsulinism, UCP2 related NGS Genetic Test
The purpose of this test is to detect mutations in the UCP2 gene that cause hyperinsulinism. It aids...
LMNA Gene Lipodystrophy type 2, familial partial NGS Genetic Test
To identify mutations in the LMNA gene associated with familial partial lipodystrophy type 2, aiding...
HNF1A Gene Maturity-onset diabetes of the young type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the HNF1A gene to confirm a diagnosis of Maturity...
RFX6 Gene Maturity-onset diabetes of the young, RFX6 related NGS Genetic Test
The purpose of the RFX6 Gene MODY NGS Genetic Test is to identify pathogenic or likely pathogenic mu...
COL4A5 Gene Alport syndrome, X-Linked NGS Genetic Test
To detect mutations in the COL4A5 gene for accurate diagnosis of X-linked Alport syndrome, enabling...
COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test
To identify mutations in the COL4A4 gene associated with autosomal recessive Alport Syndrome for dia...
PEX1 Gene Heimler syndrome type 1 NGS Genetic Test
The purpose of the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test is to identify pathogenic or l...
VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic Test
The purpose of the VIPAS39 Gene ARC Syndrome NGS Genetic Test is to identify pathogenic mutations in...
IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
The purpose of the IARS2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic varian...
PTPN14 Gene Choanal atresia and lymphedema NGS Genetic Test
The purpose of the PTPN14 Gene Choanal Atresia and Lymphedema NGS Genetic Test is to identify pathog...
PLEC Gene Epidermolysis bullosa simplex with pyloric atresia NGS Genetic Test
To identify mutations in the PLEC gene for diagnosing epidermolysis bullosa simplex with pyloric atr...
ELOVL4 Gene Ichthyosis, spastic quadriplegia, and mental retardation NGS Genetic Test
To diagnose ELOVL4 Gene Ichthyosis, Spastic Quadriplegia, and Mental Retardation through genetic ana...
ALOX12B Gene Ichthyosis, congenital, autosomal recessive, type 2 NGS Genetic Test
The purpose of the ALOX12B Gene Ichthyosis NGS Genetic Test is to identify pathogenic mutations in t...
FLT4 Gene Lymphedema, hereditary, type 1A NGS Genetic Test
The purpose of the FLT4 Gene Lymphedema NGS Genetic Test is to diagnose hereditary lymphedema type 1...
ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ZMPSTE24 gene to confirm a diagn...
MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test
To diagnose McKusick-Kaufman Syndrome by identifying mutations in the MKKS gene using NGS technology...
AP1S1 Gene MEDNIK syndrome NGS Genetic Test
To diagnose MEDNIK syndrome by detecting pathogenic mutations in the AP1S1 gene using NGS technology...
CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic Test
To diagnose CYP2R1 gene rickets by identifying mutations in the CYP2R1 gene through next-generation...
SLC39A13 Gene Spondylocheirodysplasia, Ehlers-Danlos syndrome-like NGS Genetic Test
To identify mutations in the SLC39A13 gene associated with Spondylocheirodysplasia and Ehlers-Danlos...
BRAF Gene Cardiofaciocutaneous syndrome NGS Genetic Test
To identify mutations in the BRAF gene for accurate diagnosis of Cardiofaciocutaneous syndrome, enab...
KRAS Gene Cardiofaciocutaneous syndrome NGS Genetic Test
To diagnose Cardiofaciocutaneous Syndrome by identifying mutations in the KRAS gene and other associ...
MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test
To diagnose McKusick-Kaufman Syndrome by identifying mutations in the MKKS gene using NGS technology...
LZTFL1 Gene Bardet-Biedl syndrome, LZTFL1 related NGS Genetic Test
To confirm diagnosis of Bardet-Biedl Syndrome by identifying mutations in the LZTFL1 gene, enabling...
ICK Gene Endocrine-cerebroosteodysplasia NGS Genetic Test
The purpose of the ICK Gene Endocrine-Cerebroosteodysplasia NGS Genetic Test is to detect mutations...
ESR1 Gene Estrogen resistance NGS Genetic Test
The purpose of the ESR1 Gene Estrogen Resistance NGS Genetic Test is to detect mutations in the ESR1...
TRMU Gene Liver failure transient infantile NGS Genetic Test
The purpose of the TRMU Gene NGS Genetic Test is to detect mutations in the TRMU gene that cause tra...
WNT4 Gene SERKAL syndrome NGS Genetic Test
The purpose of the WNT4 Gene SERKAL Syndrome NGS Genetic Test is to detect mutations in the WNT4 gen...
RBM8A Gene Thromocytopenia-Absent-Radius-Syndrome NGS Genetic Test
To identify mutations in the RBM8A gene for diagnosis and management of thrombocytopenia-absent-radi...
LRP2 Gene Donnai-Barrow syndrome NGS Genetic Test
To identify mutations in the LRP2 gene for diagnosis of Donnai-Barrow Syndrome, aiding in early mana...
ERCC4 Gene Fanconi anemia, complementation group Q NGS Genetic Test
To diagnose ERCC4 Gene Fanconi Anemia by identifying pathogenic mutations in the ERCC4 gene, assess...
TP63 Gene Rapp-Hodgkin syndrome NGS Genetic Test
The purpose of the TP63 Gene Rapp-Hodgkin Syndrome NGS Genetic Test is to identify mutations in the...
Achondroplasia Mutation Analysis (FGFR3 Gene G1138A, G1138C)
The purpose of the Achondroplasia Mutation Analysis test is to confirm the diagnosis of achondroplas...
Chromosome Breakage Syndrome
The purpose of Chromosome Breakage Syndrome testing is to identify mutations in genes involved in DN...
Complete Inherited Disease Panel
The purpose of the Complete Inherited Disease Panel is to diagnose inherited diseases by identifying...
Factor V Mutation Screening (F5 - G1691A)
The purpose of Factor V Mutation Screening is to detect the G1691A mutation in the Factor V gene, wh...
Fragile X Syndrome (FMR1) Detection by PCR
The purpose of this test is to diagnose Fragile X Syndrome by detecting mutations or expansions in t...
Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C & C282Y)
The purpose of the Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C & C282Y) is to i...
Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C)
The MTHFR gene test is performed to identify genetic variants that may impair folate metabolism and...
Prader-Willi Syndrome (FISH)
The purpose of the Prader-Willi Syndrome (FISH) test is to diagnose PWS by detecting deletions or ab...
QF PCR[Any One Marker]
The purpose of QF PCR testing is to diagnose genetic disorders by detecting specific genetic markers...
Targeted Mutation Analysis (More Than 2 Mutations)
To detect the presence of specific genetic mutations associated with hereditary disorders, aiding in...
B. Pseudomalie (RNA Detection) Qualitative Test
To diagnose B. Pseudomalie by detecting RNA fragments associated with BPIFB1 gene mutations, enablin...
CCL3-L1 Gene Load Test
The purpose of the CCL3-L1 Gene Load Test is to assess the genetic risk for diseases linked to the C...
Genotyping by Sequencing-96 Samples
Genotyping by sequencing is used to determine genetic variation in organisms for research and diagno...
ChIP Sequencing
ChIP sequencing is used to study protein-DNA interactions, identify genomic locations of DNA-binding...
Human Bisulfite Sequencing
The purpose of human bisulfite sequencing is to detect and quantify DNA methylation levels across th...
MeDIP Sequencing
The primary purpose of MeDIP sequencing is to identify and analyze DNA methylation patterns that are...
Amplicon Library Preparation
The purpose of Amplicon Library Preparation is to enable targeted sequencing of specific genomic reg...
DNA Short Insert Library Preparation
The purpose of DNA short insert library preparation is to prepare DNA samples for sequencing, allowi...
Eukaryotic mRNA Sequencing-Ultra Low Input
The purpose of eukaryotic mRNA sequencing is to analyze gene expression profiles to identify active...
Eukaryotic SmallRNA Sequencing
The purpose of Eukaryotic SmallRNA Sequencing is to identify small RNA molecules associated with dis...
Metatranscriptome Sequencing and Analysis
The primary purpose of metatranscriptome sequencing is to analyze the active gene expression in a sa...
Eukaryotic Stranded mRNA Library Preparation
The purpose of Eukaryotic Stranded mRNA Library Preparation is to generate high-quality sequencing l...
PIK3CA Mutation Analysis
The purpose of PIK3CA mutation analysis is to identify genetic changes in the PIK3CA gene for diagno...
Sanger Sequencing: Single Variant Test
The primary purpose of this test is to detect or confirm a specific genetic variant in an individual...
Sickle Cell Anemia Mutation Detection Test
The purpose of this test is to detect the specific genetic mutation (GAG>GTG at codon 6 of the HBB g...
Warfarin Sensitivity Detection Test
This test detects genetic variants that affect warfarin metabolism and sensitivity. It is used to id...
GALC Gene Krabbe disease NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the GALC gene that are responsi...
XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic Test
To detect pathogenic variants in the XK gene in individuals with clinical features of McLeod syndrom...
LAS1L Gene Wilson-Turner syndrome NGS Genetic Test
The purpose of the LAS1L Gene Wilson-Turner Syndrome NGS Genetic Test is to diagnose Wilson-Turner s...
PALB2 Gene Fanconi anemia type N NGS Genetic Test
The purpose of this test is to detect mutations in the PALB2 gene to diagnose Fanconi anemia type N,...
LRRC6 Gene Primary ciliary dyskinesia type 19 NGS Genetic Test
To diagnose Primary Ciliary Dyskinesia Type 19 by detecting pathogenic mutations in the LRRC6 gene u...
SPAG1 Gene Primary ciliary dyskinesia type 28 NGS Genetic Test
To diagnose primary ciliary dyskinesia type 28 by identifying pathogenic mutations in the SPAG1 gene...
HYDIN Gene Primary ciliary dyskinesia type 5 NGS Genetic Test
The purpose of the HYDIN Gene Primary Ciliary Dyskinesia Type 5 NGS Genetic Test is to identify path...
WFS1 Gene Wolfram-like syndrome, autosomal dominant NGS Genetic Test
The purpose of this test is to detect mutations in the WFS1 gene to confirm a diagnosis of Wolfram-l...
COLEC11 Gene 3MC syndrome type 2 NGS Genetic Test
To diagnose 3MC syndrome type 2 by detecting pathogenic mutations in the COLEC11 gene using NGS tech...
ARHGAP31 Gene Adams-Oliver syndrome type 1 NGS Genetic Test
To diagnose Adams-Oliver Syndrome Type 1 by identifying mutations in the ARHGAP31 gene using next-ge...
LRMDA Gene Albinism, oculocutaneous type 7 NGS Genetic Test
To diagnose Oculocutaneous Albinism Type 7 (OCA7) by identifying pathogenic mutations in the LRMDA g...
MYH3 Gene Arthrogryposis, distal, type 2A NGS Genetic Test
To detect mutations in the MYH3 gene for diagnosis of distal arthrogryposis type 2A, enabling early...
TNNI2 Gene Arthrogryposis, distal, type 2B NGS Genetic Test
The purpose of this test is to identify mutations in the TNNI2 gene that cause distal arthrogryposis...
RAD21 Gene Cornelia de Lange syndrome type 4 NGS Genetic Test
To identify mutations in the RAD21 gene for accurate diagnosis of Cornelia de Lange Syndrome Type 4,...
TMCO1 Gene Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the TMCO1 gene to confirm a diagnosis...
TERT Gene Dyskeratosis congenita, autosomal recessive type 4/ autosomal dominant type 2 NGS Genetic Test
To diagnose dyskeratosis congenita by identifying pathogenic mutations in the TERT gene using next-g...
DKC1 Gene Dyskeratosis congenita, X-linked NGS Genetic Test
To diagnose X-linked Dyskeratosis Congenita by identifying mutations in the DKC1 gene using NGS tech...
COX4I2 Gene Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NGS Genetic Test
To diagnose mutations in the COX4I2 gene that cause exocrine pancreatic insufficiency, dyserythropoi...
SRCAP Gene Floating-Harbor syndrome NGS Genetic Test
The purpose of the SRCAP Gene Floating-Harbor syndrome NGS Genetic Test is to detect mutations in th...
SH3PXD2B Gene Frank-ter Haar syndrome NGS Genetic Test
To identify pathogenic mutations in the SH3PXD2B gene for the diagnosis of Frank-ter Haar syndrome,...
TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic Test
To diagnose Ghosal Hematodiaphyseal Syndrome by detecting mutations in the TBXAS1 gene using NGS tec...
SLCO2A1 Gene Hypertrophic osteoarthropathy type 2 NGS Genetic Test
To detect mutations in the SLCO2A1 gene for the diagnosis of Hypertrophic Osteoarthropathy Type 2.
DMP1 Gene Hypophosphatemic rickets, autosomal recessive type 1 NGS Genetic Test
To identify mutations in the DMP1 gene for diagnosis of autosomal recessive hypophosphatemic rickets...
DNMT3B Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 NGS Genetic Test
To diagnose Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 (ICF1) by iden...
ITGA3 Gene Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital NGS Genetic Test
To detect mutations in the ITGA3 gene associated with interstitial lung disease, nephrotic syndrome,...
LIG4 Gene LIG4 syndrome NGS Genetic Test
The purpose of the LIG4 Gene NGS Genetic Test is to diagnose LIG4 syndrome by identifying mutations...
CHRNA1 Gene Multiple pterygium syndrome lethal type NGS Genetic Test
The purpose of the CHRNA1 Gene NGS Genetic Test is to detect pathogenic mutations in the CHRNA1 gene...
CHRND Gene Multiple pterygium syndrome lethal type NGS Genetic Test
The purpose of this test is to diagnose Multiple Pterygium Syndrome Lethal Type by identifying mutat...
LMX1B Gene Nail-Patella syndrome NGS Genetic Test
To detect mutations in the LMX1B gene for accurate diagnosis of Nail-Patella Syndrome, enabling earl...
FECH Gene Protoporphyria, erythropoietic type 1 NGS Genetic Test
To diagnose Erythropoietic Protoporphyria by identifying mutations in the FECH gene using Next-Gener...
ABCC6 Gene Pseudoxanthoma elasticum NGS Genetic Test
To detect mutations in the ABCC6 gene for the diagnosis of Pseudoxanthoma elasticum, enabling early...
CHRNG Gene Pterygium syndrome NGS Genetic Test
To diagnose Pterygium Syndrome by identifying mutations in the CHRNG gene using Next Generation Sequ...
PARN Gene Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 NGS Genetic Test
The purpose of the PARN Gene NGS Genetic Test is to detect mutations in the PARN gene that cause pul...
MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 NGS Genetic Test
To diagnose mutations in the MESP2 gene causing spondylocostal dysostosis type 2, enabling accurate...
DLX3 Gene Trichodontoosseous syndrome NGS Genetic Test
The purpose of this test is to diagnose Trichodontoosseous syndrome by detecting mutations in the DL...
THSD1 Gene Thrombospondin Type 1 domain-containing protein 1 NGS Genetic Test
The purpose of the THSD1 Gene NGS Genetic Test is to identify pathogenic mutations in the THSD1 gene...
TRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic Test
To identify mutations in the TRPS1 gene for the diagnosis of Trichorhinophalangeal syndrome type 1.
ERCC3 Gene Trichothiodystrophy NGS Genetic Test
To detect mutations in the ERCC3 gene for the diagnosis of Trichothiodystrophy, aiding in clinical m...
PAX3 Gene Waardenburg syndrome type 1 NGS Genetic Test
The purpose of the PAX3 Gene Waardenburg Syndrome Type 1 NGS Genetic Test is to identify pathogenic...
CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic Test
The purpose of this test is to detect mutations in the CBS gene that cause homocystinuria, enabling...
STIM1 Gene Stormorken syndrome NGS Genetic Test
To detect mutations in the STIM1 gene for the diagnosis of Stormorken syndrome, aiding in clinical m...
MKS1 Gene Bardet-Biedl syndrome type 13 NGS Genetic Test
The purpose of this test is to identify mutations in the MKS1 gene that cause Bardet-Biedl Syndrome...
BBS4 Gene Bardet-Biedl syndrome type 4 NGS Genetic Test
To diagnose Bardet-Biedl Syndrome type 4 by detecting pathogenic mutations in the BBS4 gene using NG...
ARL6 Gene Bardet-Biedl syndrome type 3 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ARL6 gene to diagnose Bardet-Bie...
BBS7 Gene Bardet-Biedl syndrome type 7 NGS Genetic Test
To identify mutations or alterations in the BBS7 gene for the diagnosis of Bardet-Biedl syndrome typ...
TTC8 Gene Bardet-Biedl syndrome type 8 NGS Genetic Test
To detect mutations in the TTC8 gene for diagnosis of Bardet-Biedl Syndrome Type 8.
MKKS Gene Bardet-Biedl syndrome type 6 NGS Genetic Test
To identify mutations in the MKKS gene that cause Bardet-Biedl Syndrome Type 6, enabling accurate di...
SCO1 Gene Hepatic failure, early onset, and neurologic disorder NGS Genetic Test
To detect mutations in the SCO1 gene for definitive diagnosis of hepatic failure and neurologic diso...
SP110 Gene Hepatic venoocclusive disease with immunodeficiency NGS Genetic Test
To diagnose Hepatic Venoocclusive Disease with Immunodeficiency (VODI) by detecting pathogenic mutat...
UGT1A1 Gene Hyperbilirubinemia, familial transient neonatal NGS Genetic Test
To diagnose familial transient neonatal hyperbilirubinemia caused by UGT1A1 gene mutations, confirm...
SARS2 Gene Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis NGS Genetic Test
The purpose of this test is to identify mutations in the SARS2 gene that may cause hyperuricemia, pu...
GATA3 Gene Hypoparathyroidism, sensorineural deafness, and renal dysplasia NGS Genetic Test
The purpose of the GATA3 Gene NGS Genetic Test is to diagnose mutations in the GATA3 gene that cause...
SLC7A7 Gene LYSINURIC PROTEIN INTOLERANCE NGS Genetic Test
To diagnose Lysinuric Protein Intolerance by identifying mutations in the SLC7A7 gene using NGS tech...
B9D2 Gene Meckel syndrome type 10 NGS Genetic Test
To diagnose Meckel syndrome type 10 by identifying pathogenic mutations in the B9D2 gene using Next...
TMEM67 Gene Meckel syndrome type 3 NGS Genetic Test
The purpose of this test is to identify mutations in the TMEM67 gene to diagnose Meckel syndrome typ...
SAMD9 Gene Mirage syndrome NGS Genetic Test
To diagnose Mirage Syndrome by detecting pathogenic mutations in the SAMD9 gene using NGS technology...
SLC34A1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 NGS Genetic Test
To diagnose Hypophosphatemic Nephrolithiasis/Osteoporosis, Type 1 (HHRH1) by detecting mutations in...
CRB2 Gene Ventriculomegaly with cystic kidney disease NGS Genetic Test
To diagnose ventriculomegaly with cystic kidney disease caused by CRB2 gene mutations through accura...
APOE Gene Sea-blue histiocyte disease NGS Genetic Test
The purpose of this test is to diagnose sea-blue histiocyte disease by detecting mutations in the AP...
BCS1L Gene Bjornstad syndrome NGS Genetic Test
To diagnose Bjornstad syndrome by identifying mutations in the BCS1L gene using NGS technology.
ASXL1 Gene Bohring-Opitz syndrome NGS Genetic Test
To diagnose Bohring-Opitz Syndrome by detecting pathogenic mutations in the ASXL1 gene using NGS tec...
GDF5 Gene Brachydactyly type A1C NGS Genetic Test
The purpose of the GDF5 Gene Brachydactyly type A1C NGS Genetic Test is to identify mutations in the...
TGFB1 Gene Camurati-Engelmann disease NGS Genetic Test
The purpose of this test is to diagnose Camurati-Engelmann disease by detecting pathogenic mutations...
BDNF Gene Central hypoventilation syndrome, congenital NGS Genetic Test
To diagnose congenital central hypoventilation syndrome by identifying pathogenic mutations in the B...
MECP2 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
To identify mutations in the MECP2 gene for accurate diagnosis of Central Hypoventilation Syndrome,...
ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 NGS Genetic Test
The purpose of this test is to diagnose Cerebrooculofacioskeletal syndrome type 4 (COFS4) by detecti...
ERCC6 Gene Cerebrooculofacioskeletal syndrome type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the ERCC6 gene that cause Cerebrooculofacioskel...
PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic Test
To detect mutations in the PRKD1 gene associated with congenital heart defects and ectodermal dyspla...
WDR19 Gene Cranioectodermal dysplasia type 4 NGS Genetic Test
The purpose of this test is to identify mutations in the WDR19 gene to diagnose Cranioectodermal Dys...
Cystic Fibrosis Mutation Screening (CFTR - Del 508, G551D/R553X, G542X)
The purpose of this test is to identify the presence of specific CFTR gene mutations associated with...
Sibling DNA Test
The primary purpose of a Sibling DNA Test is to establish the biological relationship between siblin...
Avuncular (Aunt/Uncle) DNA Test
The primary purpose of the avuncular DNA test is to establish or exclude a biological relationship b...
Grandparent DNA Test
The purpose of the Grandparent DNA Test is to establish a biological link between a grandparent and...
Hospital Baby Exchange Maternity DNA Test
The purpose of the Maternity DNA Test is to provide scientific certainty regarding biological matern...
Single Profiling DNA Test
The primary purpose of the Single Profiling DNA Test is to generate a unique DNA profile for an indi...
Whole Exome Sequencing + Chromosomal Microarray
The purpose of combining Whole Exome Sequencing and Chromosomal Microarray is to identify the underl...
DNA Extraction from Solid Tissue - Plant
The primary purpose of DNA extraction from solid plant tissue is to obtain pure, intact DNA suitable...
DNA Extraction from Blood - EDTA
The primary purpose of DNA extraction from blood is to isolate high-quality genomic DNA for genetic...
DNA Extraction from Cultured Cells
The primary purpose of DNA extraction from cultured cells is to obtain high-quality genomic DNA for...
DNA Extraction from Insect
The primary purpose of DNA extraction from insects is to obtain pure DNA for various applications. T...
DNA Extraction from Swab or Filter
The primary purpose of DNA extraction is to obtain pure, high-quality DNA from a biological sample f...
DNA Extraction from Plasma or Serum
The primary purpose of DNA extraction from plasma or serum is to obtain purified DNA for molecular t...
DNA Extraction from Saliva
The primary purpose of DNA extraction from saliva is to isolate genetic material for subsequent anal...
DNA Extraction from Milk
The primary purpose of DNA extraction from milk is to obtain pure, high-molecular-weight DNA for gen...
DNA QC and Quantitation - Nanodrop
The primary purpose of DNA QC and Quantitation by Nanodrop is to assess the concentration and purity...
DNA QC and Quantitation - Qubit
The primary purpose of DNA QC and quantitation is to assess the quality and quantity of DNA in a sam...
Cattle Genome Sequencing and Variant Calling-30X
The primary purpose of Cattle Genome Sequencing and Variant Calling is to identify genetic mutations...
Human Genome Sequencing and Variant Calling-30X
The primary purpose of Human Genome Sequencing and Variant Calling is to identify genetic variants t...
Cattle Genome Sequencing and Variant Calling-10X
The primary purpose of Cattle Genome Sequencing and Variant Calling is to provide a complete genetic...
Human Exome Sequencing and Analysis - SureSelect V6
The primary purpose of Human Exome Sequencing is to identify the genetic cause of a suspected inheri...
ddRAD Sequencing and Primary Analysis-96 Samples
The purpose of ddRAD sequencing and primary analysis is to identify genetic variants across the geno...
Human Bisulfite Sequencing and Analysis
The primary purpose of human bisulfite sequencing is to identify and quantify DNA methylation change...
ChIP Sequencing and Analysis
The purpose of ChIP sequencing is to identify the specific DNA regions where proteins of interest bi...
SELEX Sequencing and Analysis
The purpose of SELEX sequencing and analysis is to identify and characterize nucleic acid aptamers t...
Aptamer Sequencing and Analysis
The purpose of aptamer sequencing and analysis is to determine the nucleotide sequences of aptamers...
MeDIP Sequencing and Analysis
The purpose of MeDIP sequencing is to detect and quantify DNA methylation patterns across the genome...
Hi-C Sequencing and Analysis
The purpose of Hi-C sequencing is to map the 3D architecture of the genome, revealing how chromatin...
ATAC Sequencing and Analysis
The primary purpose of ATAC sequencing is to assess chromatin accessibility, which reflects the regu...
Cattle Genome Sequencing-10X
The primary purpose of cattle genome sequencing is to provide a complete genetic profile of an indiv...
Bisulfite Sequencing Library Preparation
The purpose of bisulfite sequencing library preparation is to generate a sequencing-ready library th...
ChIP-Seq Library Preparation
The purpose of ChIP-Seq library preparation is to generate a sequencing-ready library from DNA fragm...
MeDIP-Seq Library Preparation
The purpose of MeDIP-Seq library preparation is to generate a sequencing-ready library that accurate...
Vertebrate Genome Reference Based Data Analysis-Illumina
The purpose of this analysis is to detect genetic variations in vertebrate genomes that may be assoc...
Chloroplast Genome Sequencing Data Analysis
The purpose of chloroplast genome sequencing data analysis is to identify and characterize genetic v...
Genotyping by Sequencing Primary Data Analysis-96 Samples
The purpose of this test is to perform primary data analysis on genotyping-by-sequencing data from 9...
Bisulfite Sequencing Data Analysis
The purpose of bisulfite sequencing data analysis is to detect and quantify DNA methylation patterns...
ChIP Sequencing Data Analysis
The purpose of ChIP-seq data analysis is to identify genome-wide binding sites of proteins of intere...
MeDIP Sequencing Data Analysis
The purpose of MeDIP sequencing data analysis is to detect and quantify DNA methylation patterns acr...
SELEX Sequencing Data Analysis
The purpose of SELEX sequencing data analysis is to identify and characterize aptamer sequences that...
Aptamer Sequencing Data Analysis
The primary purpose of Aptamer Sequencing Data Analysis is to decode the vast amount of data generat...
Hi-C Sequencing Data Analysis
The purpose of Hi-C sequencing data analysis is to map the 3D architecture of the genome and detect...
RNA Extraction from Solid Tissue- Animal
The primary purpose of RNA extraction from solid tissue is to isolate pure, intact RNA for downstrea...
RNA Extraction from Solid Tissue- Plant
The primary purpose of RNA extraction from solid plant tissue is to isolate high-quality RNA for dow...
ATAC Sequencing Data Analysis
The purpose of ATAC sequencing data analysis is to identify regions of open chromatin that are acces...
RNA Extraction from Blood-Paxgene/Tempus
The primary purpose of RNA extraction from blood is to isolate total RNA for molecular analysis. Thi...
RNA Extraction from Plasma or Serum
The primary purpose of RNA extraction from plasma or serum is to isolate high-quality RNA for downst...
RNA QC and Quantitation
The primary purpose of RNA QC and quantitation is to evaluate the quality and quantity of RNA sample...
RNA Extraction from Milk
The purpose of RNA extraction from milk is to obtain high-quality RNA for various applications, incl...
Eukaryotic Stranded mRNA Sequencing and Reference Based Analysis
The purpose of this test is to analyze the gene expression profile of eukaryotic cells. It helps in...
Eukaryotic mRNA Sequencing and Reference Based Analysis
The purpose of eukaryotic mRNA sequencing and reference-based analysis is to identify genetic variat...
Eukaryotic mRNA Sequencing and Reference Based Analysis-Ultra Low Input
The purpose of this test is to analyze the expression levels of thousands of genes simultaneously. B...
Eukaryotic mRNA Sequencing and Reference Based Analysis-Low Input
The primary purpose of this test is to identify genetic variations and expression abnormalities that...
Eukaryotic mRNA Sequencing and De Novo Analysis
The primary purpose of eukaryotic mRNA sequencing and de novo analysis is to provide a comprehensive...
Eukaryotic SmallRNA Sequencing and Analysis
The primary purpose of eukaryotic smallRNA sequencing is to comprehensively profile small RNA molecu...
Eukaryotic mRNA Sequencing Reference Based Data Analysis
The primary purpose of this test is to analyze mRNA sequences from a patient sample to identify gene...
Eukaryotic mRNA Sequencing De Novo Data Analysis
The purpose of eukaryotic mRNA sequencing de novo data analysis is to determine the complete transcr...
Eukaryotic SmallRNA Sequencing Data Analysis
The purpose of eukaryotic small RNA sequencing data analysis is to accurately identify and quantify...
2x250 Miseq Sequencing-Flow Cell
The primary purpose of this test is to provide high-throughput DNA sequencing for clinical and resea...
Molecular Karyotyping for Amniotic Fluid Test
The purpose of molecular karyotyping for amniotic fluid is to detect chromosomal abnormalities in th...
Nx Gen Sequencing: Maturity Onset Diabetes of Young (MODY) Test
To identify genetic mutations associated with Maturity Onset Diabetes of Young (MODY) for accurate d...
Nx Gen Sequencing: Maturity Onset Diabetes of Young (MODY) Test
The Nx Gen Sequencing MODY Test is designed to identify genetic mutations in genes associated with M...
IGF2 Gene Diabetes, IGF2 related NGS Genetic Test
The purpose of the IGF2 Related NGS Genetic Test is to identify genetic variations in the IGF2 gene...
ABCC8 Gene Diabetes mellitus, transient neonatal type 2 NGS Genetic Test
To identify mutations in the ABCC8 gene associated with transient neonatal type 2 diabetes mellitus,...
HNF4A Gene Maturity-onset diabetes of the young type 1 NGS Genetic Test
To identify mutations in the HNF4A gene for the diagnosis of Maturity-onset diabetes of the young ty...
GCK Gene Maturity-onset diabetes of the young type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the GCK gene for definitive diagnosis of Maturi...
PDX1 Gene Maturity-onset diabetes of the young type 4 NGS Genetic Test
To detect mutations in the PDX1 gene that cause Maturity-onset diabetes of the young type 4, aiding...
CEL Gene Maturity-onset diabetes of the young type 8 NGS Genetic Test
The purpose of the CEL Gene Maturity-onset Diabetes of the Young Type 8 NGS Genetic Test is to ident...
BLK Gene Maturity-onset diabetes of the young type 11 NGS Genetic Test
To identify mutations in the BLK gene for precise diagnosis of Maturity-onset diabetes of the young...
NEUROD1 Gene Maturity-onset diabetes of the young type 6 NGS Genetic Test
To diagnose maturity-onset diabetes of the young type 6 (MODY6) by detecting mutations in the NEUROD...
KLF11 Gene Maturity-onset diabetes of the young type 7 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the KLF11 gene to diagnose Maturity-on...
SOD2 Gene Microvascular complications of diabetes type 6, susceptibility to NGS Genetic Test
To identify mutations in the SOD2 gene that increase susceptibility to microvascular complications o...
INS Gene Diabetes mellitus type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the INS gene that may indicate a genetic predis...
HNF1A Gene Diabetes mellitus, insulin-dependent type 20 NGS Genetic Test
The purpose of the HNF1A Gene Diabetes NGS Genetic Test is to accurately diagnose mutations in the H...
GLIS3 Gene Diabetes mellitus, neonatal NGS Genetic Test
To detect mutations or alterations in the GLIS3 gene that may cause neonatal diabetes mellitus, enab...
AKT2 Gene Diabetes mellitus, noninsulin-dependent NGS Genetic Test
To identify mutations in the AKT2 gene that may be associated with an increased risk of type 2 diabe...
Maturity-Onset Diabetes of the Young (MODY) Gene Panel
The purpose of the MODY Gene Panel is to confirm or rule out a diagnosis of MODY in individuals with...
ACTN3 (Sports Gene) Genotyping Test
The purpose of the ACTN3 Sports Gene Genotyping Test is to determine an individual's genetic makeup...
COL11A1 Gene Marshall syndrome NGS Genetic Test
To confirm a diagnosis of Marshall syndrome by identifying pathogenic mutations in the COL11A1 gene,...
WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test
To diagnose Progressive Pseudorheumatoid Arthropathy of Childhood (PPAC) by detecting mutations in t...
FLNB Gene Atelosteogenesis type 3 NGS Genetic Test
The purpose of the FLNB Gene Atelosteogenesis Type 3 NGS Genetic Test is to confirm the diagnosis of...
MYH8 Gene Arthrogryposis, distal, type 7 NGS Genetic Test
To diagnose distal arthrogryposis type 7 caused by MYH8 gene mutations, enabling accurate medical ma...
FLNB Gene Atelosteogenesis type 1 NGS Genetic Test
To detect mutations in the FLNB gene for definitive diagnosis of Atelosteogenesis Type 1, enabling e...
EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test
The purpose of this test is to detect mutations in the EBP gene that cause X-linked dominant chondro...
RUNX2 Gene Cleidocranial dysplasia NGS Genetic Test
The RUNX2 Gene Cleidocranial Dysplasia NGS Genetic Test is performed to confirm a clinical diagnosis...
ARSE Gene Chondrodysplasia punctata, X-linked recessive NGS Genetic Test
The purpose of this test is to diagnose Chondrodysplasia punctata caused by ARSE gene mutations, con...
ANKH Gene Chondrocalcinosis type 2 NGS Genetic Test
The purpose of the ANKH Gene Chondrocalcinosis Type 2 NGS Genetic Test is to identify pathogenic mut...
P4HB Gene Cole-Carpenter syndrome type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the P4HB gene using Next-Generation Sequencing to...
COMP Gene Epiphyseal dysplasia, multiple, type 1 NGS Genetic Test
To identify mutations in the COMP gene for accurate diagnosis of epiphyseal dysplasia, multiple, typ...
MATN3 Gene Epiphyseal dysplasia, multiple, type 5 NGS Genetic Test
The purpose of the MATN3 Gene NGS Genetic Test is to accurately diagnose Epiphyseal Dysplasia, Multi...
COL9A3 Gene Epiphyseal dysplasia, multiple, type 3 NGS Genetic Test
The purpose of the COL9A3 Gene Epiphyseal Dysplasia Type 3 NGS Genetic Test is to identify pathogeni...
LPIN2 Gene Majeed syndrome NGS Genetic Test
To detect mutations in the LPIN2 gene for accurate diagnosis of Majeed syndrome, aiding in clinical...
TGFBR2 Gene Marfan syndrome, TGFBR2 related NGS Genetic Test
To identify mutations in the TGFBR2 gene for diagnosing Marfan syndrome and assessing genetic risk.
TGFBR1 Gene Marfan syndrome, TGFBR1 related NGS Genetic Test
To diagnose Marfan syndrome caused by TGFBR1 gene mutations and assess family risk for early interve...
TGFBR1 Gene Loeys-Dietz syndrome type 2A NGS Genetic Test
To diagnose Loeys-Dietz syndrome type 2A by detecting mutations in the TGFBR1 gene using NGS technol...
IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic Test
The purpose of this test is to diagnose IDH1 gene metaphyseal chondromatosis with increased urinary...
COL10A1 Gene Metaphyseal chondrodysplasia, Schmid type NGS Genetic Test
The purpose of the COL10A1 Gene MCDS NGS Genetic Test is to confirm a diagnosis of Metaphyseal chond...
CLCN7 Gene Osteopetrosis, autosomal recessive type 4 NGS Genetic Test
To identify pathogenic mutations in the CLCN7 gene for accurate diagnosis of autosomal recessive ost...
P3H1 Gene Osteogenesis imperfecta type 8 NGS Genetic Test
The purpose of the P3H1 Gene Osteogenesis Imperfecta Type 8 NGS Genetic Test is to identify mutation...
OSTM1 Gene Osteopetrosis, autosomal recessive type 5 NGS Genetic Test
The purpose of the OSTM1 Gene Osteopetrosis NGS Genetic Test is to detect mutations in the OSTM1 gen...
CA2 Gene Osteopetrosis, autosomal recessive type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the CA2 gene associated with autosomal recessive...
AMER1 Gene Osteopathia striata with cranial sclerosis NGS Genetic Test
The purpose of this test is to detect mutations in the AMER1 gene associated with Osteopathia Striat...
IL1RN Gene Osteomyelitis, sterile multifocal, with periostitis and pustulosis NGS Genetic Test
The purpose of this test is to identify mutations in the IL1RN gene that cause sterile multifocal os...
TCIRG1 Gene Osteopetrosis, autosomal recessive type 1 NGS Genetic Test
To diagnose osteopetrosis, autosomal recessive type 1, by identifying pathogenic mutations in the TC...
SNX10 Gene Osteopetrosis of infancy, malignant NGS Genetic Test
The purpose of the SNX10 Gene Osteopetrosis of Infancy NGS Genetic Test is to diagnose mutations in...
TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 NGS Genetic Test
The purpose of the TNFSF11 Gene Osteopetrosis NGS Genetic Test is to diagnose autosomal recessive ty...
PLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic Test
The purpose of this test is to identify mutations in the PLEKHM1 gene that cause autosomal recessive...
PPIB Gene Osteogenesis imperfecta type 9 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 9 by detecting pathogenic mutations in the PPIB gene using...
CRTAP Gene Osteogenesis imperfecta type 7 NGS Genetic Test
The purpose of this test is to detect mutations in the CRTAP gene to confirm a diagnosis of Osteogen...
TNFRSF11A Gene Osteolysis, familial expansile NGS Genetic Test
To detect mutations in the TNFRSF11A gene for confirming diagnosis of familial expansile osteolysis,...
CLCN7 Gene Osteopetrosis, autosomal dominant type 1 NGS Genetic Test
To diagnose autosomal dominant type 1 osteopetrosis caused by CLCN7 gene mutations, enabling early i...
PLOD2 Gene Osteogenesis imperfecta with congenital joint contractures NGS Genetic Test
The purpose of the PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures NGS Genetic...
VDR Gene Rickets, vitamin D-resistant, type 2A NGS Genetic Test
To diagnose vitamin D-resistant rickets type 2A by detecting mutations in the VDR gene using next-ge...
CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic Test
To identify mutations in the CYP27B1 gene for accurate diagnosis of vitamin D-dependent rickets type...
FLNB Gene Spondylocarpotarsal synostosis syndrome NGS Genetic Test
To identify mutations in the FLNB gene for accurate diagnosis of Spondylocarpotarsal synostosis synd...
DYM Gene Smith-McCort dysplasia NGS Genetic Test
To identify pathogenic mutations in the DYM gene for the diagnosis of Smith-McCort dysplasia, aiding...
DLL3 Gene Spondylocostal dysostosis, autosomal recessive type 1 NGS Genetic Test
To identify mutations in the DLL3 gene for accurate diagnosis of Spondylocostal dysostosis, autosoma...
CLCN5 Gene Hypophosphatemic rickets NGS Genetic Test
To diagnose CLCN5 gene mutations causing hypophosphatemic rickets.
LBR Gene Greenberg skeletal dysplasia NGS Genetic Test
To detect mutations in the LBR gene associated with Greenberg skeletal dysplasia for accurate diagno...
Achondroplasia (FGFR3 Full Gene Sequence Analysis)
To confirm a diagnosis of achondroplasia, identify carriers of FGFR3 mutations, and support prenatal...
Frozen-1
The purpose of the Frozen-1 genetic test is to identify genetic variations that may increase the ris...
Osteogenesis Imperfecta Gene Panel
The purpose of the Osteogenesis Imperfecta Gene Panel is to provide accurate genetic diagnosis of OI...
Abnormal Mineralization Panel NGS Genetic Test
To identify genetic mutations in genes associated with abnormal mineralization disorders, aiding in...
Connective Tissue and Related disorders Panel NGS Genetic Test
To diagnose connective tissue disorders by identifying genetic mutations in genes associated with co...
TRIP11 Gene Achondrogenesis type 1A NGS Genetic Test
The purpose of the TRIP11 Gene Achondrogenesis Type 1A NGS Genetic Test is to diagnose Achondrogenes...
COL2A1 Gene Achondrogenesis type 2 NGS Genetic Test
To identify mutations in the COL2A1 gene that cause achondrogenesis type 2, aiding in diagnosis, gen...
FGFR3 Gene Achondroplasia NGS Genetic Test
To detect mutations in the FGFR3 gene for diagnosis of Achondroplasia and carrier screening.
SLC26A2 Gene Achondrogenesis type 1B NGS Genetic Test
The purpose of this test is to identify mutations in the SLC26A2 gene to confirm a diagnosis of Acho...
PDE4D Gene Acrodysostosis 2 NGS Genetic Test
To identify mutations in the PDE4D gene for diagnosis of Acrodysostosis 2, guiding clinical manageme...
SF3B4 Gene Acrofacial dysostosis 1, Nager type NGS Genetic Test
To identify mutations in the SF3B4 gene for diagnosis of Acrofacial dysostosis 1, Nager type, carrie...
TPM2 Gene Arthrogryposis, distal, type 1A NGS Genetic Test
To detect mutations in the TPM2 gene that cause Arthrogryposis, distal, type 1A, aiding in diagnosis...
MYH3 Gene Arthrogryposis, distal, type 2B NGS Genetic Test
The purpose of this test is to diagnose Arthrogryposis, distal, type 2B by detecting pathogenic muta...
MYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the MYBPC1 gene that cause distal arth...
COL2A1 Gene Avascular necrosis of the femoral head, primary NGS Genetic Test
To identify pathogenic mutations in the COL2A1 gene associated with avascular necrosis of the femora...
FGFR2 Gene Beare-Stevenson cutis gyrata syndrome NGS Genetic Test
To detect mutations in the FGFR2 gene associated with Beare-Stevenson Cutis Gyrata Syndrome for diag...
FGFR2 Gene Bent bone dysplasia syndrome NGS Genetic Test
The purpose of the FGFR2 Gene Bent Bone Dysplasia Syndrome NGS Genetic Test is to accurately diagnos...
PLS3 Gene Bone mineral density QTL18, osteoporosis NGS Genetic Test
The purpose of the PLS3 Gene Osteoporosis NGS Genetic Test is to identify genetic variants in the PL...
FBN2 Gene Contractural arachnodactyly, congenital NGS Genetic Test
To detect pathogenic mutations in the FBN2 gene that cause congenital contractural arachnodactyly, e...
COL2A1 Gene Czech dysplasia NGS Genetic Test
The purpose of this test is to diagnose Czech dysplasia by identifying pathogenic mutations in the C...
HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the HSPG2 gene associated with dysse...
COL5A1 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test
The purpose of the COL5A1 Gene Ehlers-Danlos Syndrome Type 1/2 NGS Genetic Test is to detect mutatio...
COL3A1 Gene Ehlers-Danlos syndrome type 3 NGS Genetic Test
To detect pathogenic mutations in the COL3A1 gene for the diagnosis of Ehlers-Danlos syndrome type 3...
COL5A2 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test
To diagnose mutations in the COL5A2 gene causing Ehlers-Danlos Syndrome Type 1/2 for accurate clinic...
COL3A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test
The purpose of this test is to diagnose vascular Ehlers-Danlos syndrome by detecting mutations in th...
PLOD1 Gene Ehlers-Danlos syndrome type 6 NGS Genetic Test
The purpose of this test is to identify mutations in the PLOD1 gene to diagnose Ehlers-Danlos Syndro...
COL5A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test
To detect pathogenic mutations in the COL5A1 gene for definitive diagnosis of Ehlers-Danlos Syndrome...
COL1A1 Gene Ehlers-Danlos syndrome type 7A NGS Genetic Test
To identify mutations in the COL1A1 gene for diagnosis of Ehlers-Danlos syndrome type 7A, aiding in...
CHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic Test
To diagnose Ehlers-Danlos syndrome, musculocontractural type 1 by detecting pathogenic mutations in...
DSE Gene Ehlers-Danlos syndrome, musculocontractural type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the DSE gene using Next-Generation Sequencing (NG...
B4GALT7 Gene Ehlers-Danlos syndrome, progeroid type 1 NGS Genetic Test
To diagnose Ehlers-Danlos syndrome, progeroid type 1 by detecting pathogenic mutations in the B4GALT...
EXT2 Gene Exostoses, multiple, type 2 NGS Genetic Test
To identify mutations in the EXT2 gene for accurate diagnosis of hereditary multiple exostoses type...
EXT1 Gene Exostoses, multiple, type 1 NGS Genetic Test
To identify mutations in the EXT1 gene that cause hereditary multiple exostoses type 1, aiding in di...
COL11A2 Gene Fibrochondrogenesis 2 NGS Genetic Test
To detect mutations in the COL11A2 gene that cause Fibrochondrogenesis 2, aiding in diagnosis, carri...
ANO5 Gene Gnathodiaphyseal dysplasia NGS Genetic Test
To diagnose Gnathodiaphyseal dysplasia by detecting pathogenic mutations in the ANO5 gene using next...
ADAMTSL2 Gene Geleophysic dysplasia type 1 NGS Genetic Test
To diagnose Geleophysic dysplasia type 1 by identifying mutations in the ADAMTSL2 gene and to identi...
FAM111A Gene Gracile bone dysplasia NGS Genetic Test
To identify mutations in the FAM111A gene for diagnosis of gracile bone dysplasia, aiding in clinica...
LBR Gene Greenberg skeletal dysplasia NGS Genetic Test
To diagnose Greenberg skeletal dysplasia by identifying pathogenic mutations in the LBR gene using n...
ANTXR2 Gene Hyaline fibromatosis syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ANTXR2 gene to confirm a diagnos...
HPGD Gene Hypertrophic osteoarthropathy type 1 NGS Genetic Test
To diagnose hypertrophic osteoarthropathy type 1 by analyzing the HPGD gene for mutations using NGS...
FGFR3 Gene Hypochondroplasia NGS Genetic Test
To identify pathogenic mutations in the FGFR3 gene causing hypochondroplasia for accurate diagnosis,...
SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic Test
To identify mutations in the SLC34A3 gene responsible for hypophosphatemic rickets with hypercalciur...
FGF23 Gene Hypophosphatemic rickets, autosomal dominant NGS Genetic Test
The purpose of this test is to detect mutations in the FGF23 gene to confirm a diagnosis of autosoma...
ENPP1 Gene Hypophosphatemic rickets, autosomal recessive type 2 NGS Genetic Test
To identify pathogenic mutations in the ENPP1 gene for accurate diagnosis of hypophosphatemic ricket...
PHEX Gene Hypophosphatemic rickets, X-linked NGS Genetic Test
To detect pathogenic mutations in the PHEX gene for definitive diagnosis of X-linked hypophosphatemi...
COL2A1 Gene Legg-Calve-Perthes disease NGS Genetic Test
To identify mutations in the COL2A1 gene associated with Legg-Calve-Perthes disease for accurate dia...
TGFBR1 Gene Loeys-Dietz syndrome type 1A NGS Genetic Test
The purpose of this test is to detect mutations in the TGFBR1 gene that cause Loeys-Dietz Syndrome T...
TGFBR2 Gene Loeys-Dietz syndrome type 1B NGS Genetic Test
The purpose of this test is to detect mutations in the TGFBR2 gene to confirm a diagnosis of Loeys-D...
MAFB Gene Multicentric carpotarsal osteolysis syndrome NGS Genetic Test
To diagnose Multicentric Carpotarsal Osteolysis Syndrome by detecting mutations in the MAFB gene usi...
GPC6 Gene Omodysplasia type 1 NGS Genetic Test
To diagnose Omodysplasia Type 1 by detecting mutations in the GPC6 gene using Next-Generation Sequen...
COL2A1 Gene Osteoarthritis with mild chondrodysplasia NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the COL2A1 gene that cause osteoarthrit...
COL1A1 Gene Osteogenesis imperfecta NGS Genetic Test
To identify mutations in the COL1A1 gene for the diagnosis of Osteogenesis Imperfecta, enabling earl...
CSF1 Gene Osteogenesis and dental anomalies, CSF1 related NGS Genetic Test
To diagnose mutations in the CSF1 gene that cause osteogenesis and dental anomalies, enabling accura...
COL1A2 Gene Osteogenesis imperfecta NGS Genetic Test
To identify mutations in the COL1A2 gene for accurate diagnosis of Osteogenesis Imperfecta, aiding i...
SERPINH1 Gene Osteogenesis imperfecta type 10 NGS Genetic Test
To identify mutations in the SERPINH1 gene for the diagnosis of Osteogenesis Imperfecta Type 10, aid...
FKBP10 Gene Osteogenesis imperfecta type 11 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 11 by detecting mutations in the FKBP10 gene using NGS tech...
SP7 Gene Osteogenesis imperfecta type 12 NGS Genetic Test
The purpose of the SP7 Gene Osteogenesis Imperfecta Type 12 NGS Genetic Test is to diagnose OI Type...
BMP1 Gene Osteogenesis imperfecta type 13 NGS Genetic Test
To detect mutations in the BMP1 gene for the diagnosis of Osteogenesis Imperfecta Type 13, enabling...
IFITM5 Gene Osteogenesis imperfecta type 5 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 5 by detecting mutations in the IFITM5 gene using NGS techn...
TMEM38B Gene Osteogenesis imperfecta type 14 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 14 caused by TMEM38B gene mutations, enabling accurate mana...
WNT1 Gene Osteogenesis imperfecta type 15 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 15 by identifying pathogenic mutations in the WNT1 gene usi...
SERPINF1 Gene Osteogenesis imperfecta type 6 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 6 by identifying mutations in the SERPINF1 gene using NGS t...
TNFRSF11A Gene Osteopetrosis, autosomal recessive type 7 NGS Genetic Test
The purpose of this test is to identify mutations in the TNFRSF11A gene that cause autosomal recessi...
LRP5 Gene Osteoporosis pseudoglioma syndrome NGS Genetic Test
The purpose of the LRP5 Gene OPPG NGS Genetic Test is to identify pathogenic mutations in the LRP5 g...
SQSTM1 Gene Paget disease of bone NGS Genetic Test
To identify mutations in the SQSTM1 gene that cause Paget disease of bone, aiding in diagnosis, risk...
TNFRSF11B Gene Paget disease, juvenile NGS Genetic Test
To identify mutations in the TNFRSF11B gene that are associated with juvenile Paget disease, aiding...
COMP Gene Pseudoachondroplasia NGS Genetic Test
To diagnose pseudoachondroplasia by detecting pathogenic mutations in the COMP gene using NGS techno...
CTSK Gene Pycnodysostosis NGS Genetic Test
To diagnose Pycnodysostosis by detecting pathogenic mutations in the CTSK gene using Next-Generation...
FAM20C Gene Raine syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the FAM20C gene associated with Raine Syndrome,...
B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test
To diagnose mutations in the B3GALT6 gene associated with Spondyloepimetaphyseal dysplasia with join...
DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic Test
The purpose of the DDR2 Gene SMED-SL NGS Genetic Test is to identify mutations in the DDR2 gene that...
CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test
To detect pathogenic variants in the CHST3 gene for the diagnosis of spondyloepiphyseal dysplasia wi...
LFNG Gene Spondylocostal dysostosis, autosomal recessive type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the LFNG gene that cause autosomal recessive type...
MATN3 Gene Spondyloepimetaphyseal dysplasia, MATN3 related NGS Genetic Test
To diagnose Spondyloepimetaphyseal dysplasia related to MATN3 gene mutations using NGS technology fo...
FLNA Gene Terminal osseous dysplasis NGS Genetic Test
To diagnose Terminal Osseous Dysplasia by identifying mutations in the FLNA gene using NGS technolog...
SOST Gene Van Buchem disease NGS Genetic Test
To diagnose Van Buchem Disease by identifying mutations in the SOST gene using NGS technology.
MMP14 Gene Winchester Syndrome NGS Genetic Test
To diagnose Winchester syndrome by identifying pathogenic mutations in the MMP14 gene using NGS tech...
ROR2 Gene Brachydactyly type B1 NGS Genetic Test
To identify pathogenic mutations in the ROR2 gene for diagnosis of brachydactyly type B1 and to guid...
COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test
The purpose of this test is to diagnose Fibrochondrogenesis type 1 by detecting pathogenic mutations...
FBN1 Gene Marfan lipodystrophy syndrome NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Marfan lipodystro...
FBN1 Gene MASS syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the FBN1 gene that are associated with MASS syndr...
MMP9 Gene Metaphyseal anadysplasia type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Metaphyseal anadysplasia type 2 by id...
SOST Gene Sclerosteosis type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the SOST gene that cause sclerosteosis type 1. It...
CBFB Gene Skeletal abnormalities, CBFB related NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the CBFB gene and other...
COL2A1 Gene SMED Strudwick type NGS Genetic Test
The primary purpose of this test is to confirm or rule out a diagnosis of SMED Strudwick type skelet...
COL2A1 Gene Spondyloperipheral dysplasia NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the COL2A1 gene that cause Spondylop...
FBN1 Gene Stiff skin syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FBN1 gene that cause Stiff Skin...
Frozen-3
The primary purpose of the Frozen-3 test is to identify genetic variations that may increase the lik...
Comprehensive Leukemia Panel (SNVs, Small INDELs and CNVs)
The primary purpose of the Comprehensive Leukemia Panel is to identify actionable genetic mutations...
XRCC2 Gene Fanconi anemia, XRCCR2 related NGS Genetic Test
The purpose of the XRCC2 Gene Fanconi Anemia NGS Genetic Test is to detect pathogenic or likely path...
CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic Test
The purpose of the CDKN1C Gene Beckwith-Wiedemann Syndrome NGS Genetic Test is to identify mutations...
PTCH1 Gene Basal cell nevus syndrome NGS Genetic Test
The purpose of the PTCH1 Gene Basal Cell Nevus Syndrome NGS Genetic Test is to identify pathogenic o...
ATR Gene Cutaneous telangiectasia and cancer syndrome, familial NGS Genetic Test
The purpose of this test is to detect mutations in the ATR gene associated with cutaneous telangiect...
PTEN Gene Cowden syndrome type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the PTEN gene t...
MSH6 Gene Endometrial cancer, familial, MSH6 related NGS Genetic Test
The purpose of this test is to detect mutations in the MSH6 gene that increase the risk of hereditar...
MSH2 Gene Muir-Torre syndrome NGS Genetic Test
The purpose of the MSH2 Gene Muir-Torre Syndrome NGS Genetic Test is to identify mutations in the MS...
STK11 Gene Peutz-Jeghers syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the STK11 gene that cause Peutz-Jeghe...
GREM1 Gene Polyposis syndrome, hereditary mixed NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the GREM1 gene that are ass...
BMPR1A Gene Polyposis syndrome, hereditary mixed type 2 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the BMPR1A gene that caus...
ADRB2 Genotyping for Beta-2 Agonist Responsiveness Test
To assess genetic variations in the ADRB2 gene that may predict an individual's response to beta-2 a...
Clopidogrel CYP2C19 Genotype Test
To determine the CYP2C19 genotype for personalized clopidogrel therapy dosage adjustment and avoidan...
COMT Genotyping Test
To identify variations in the COMT gene that may affect the metabolism of catecholamines like dopami...
CYP3A4*22 Genotyping Test
The purpose of the CYP3A4*22 Genotyping Test is to identify whether an individual carries the CYP3A4...
HLA Hypersensitivity to Allopurinol (B*58:01) Test
The purpose of the HLA Hypersensitivity to Allopurinol (B*58:01) Test is to identify individuals car...
HLA Hypersensitivity to Carbamazepine & Phenytoin (B*15:02) Test
The purpose of this test is to identify individuals carrying the HLA-B*15:02 allele who are at incre...
Tacrolimus Genotyping (CYP3A5) Test
To determine the CYP3A5 genotype to guide personalized dosing of tacrolimus, ensuring efficacy while...
TPMT (Thiopurine Methyl Transferase) Genotyping Test
The purpose of the TPMT Genotyping Test is to identify genetic variants in the TPMT gene that affect...
VKORC1 Gene Coumarin resistance NGS Genetic Test
To diagnose genetic variations in the VKORC1 gene that may cause resistance to coumarin-based medica...
CYP2C9 Gene Coumarin/Warfarin resistance due to CYP2C9 variants NGS Genetic Test
The purpose of this test is to detect pathogenic and pharmacogenomically relevant variants in the CY...
CYP2C19 Gene CYP2C19 related poor drug metabolism NGS Genetic Test
The primary purpose of the CYP2C19 NGS Genetic Test is to identify genetic variants in the CYP2C19 g...
CYP1A2 Gene Cytochrome P450 deficiency NGS Genetic Test
To identify genetic variations in the CYP1A2 gene that affect drug metabolism, guide personalized tr...
DPYD Gene Dihydropyrimidine dehydrogenase deficiency NGS Genetic Test
To identify mutations in the DPYD gene that affect the metabolism of 5-fluorouracil chemotherapy, en...
TPMT Gene TPMT deficiency NGS Genetic Test
The purpose of the TPMT Gene Deficiency NGS Genetic Test is to identify genetic variants in the TPMT...
Cytochrome P450 2D6 Genotyping (CYP2D6 - Alleles)
To determine an individual's CYP2D6 genotype for predicting drug metabolism and response, aiding in...
Cytochrome P450 2C19 Genotyping (CYP2C19) Clopidogrel Resistance (*2,*3,*4,*10)
The primary purpose of CYP2C19 genotyping is to identify individuals who may not respond adequately...
HLA-B*57:01 Genotyping (for Abacavir Hypersensitivity)
The purpose of HLA-B*57:01 genotyping is to identify individuals at risk of developing abacavir hype...
HLA-B*1502 Genotyping (Carbamazepine)
The primary purpose of HLA-B*1502 genotyping is to identify individuals who carry the HLA-B*1502 all...
NUDT15 Gene Mutation Analysis
The purpose of NUDT15 gene mutation analysis is to identify genetic variants that predispose individ...
Thiopurine Methyltransferase (TPMT - *2, *3A, *3B, *3C) Genotyping
The primary purpose of TPMT genotyping is to determine an individual's genetic predisposition to met...
Warfarin Therapeutic Response Predictive Assay (VKORC1 & CYP2C9)
The purpose of this test is to identify genetic variants in VKORC1 and CYP2C9 genes that affect warf...
UGT1A1 Gene Polymorphism (Nucleotide 'TA' Repeats) Detection Test
The purpose of this test is to identify genetic variations in the UGT1A1 gene promoter region, speci...
ABCB1 Gene Colchicine resistance NGS Genetic Test
The purpose of this test is to determine if an individual has a genetic predisposition to colchicine...
CYP2B6 Gene Efavirenz, poor metabolism of NGS Genetic Test
The purpose of this test is to detect genetic variants in the CYP2B6 gene that affect the metabolism...
Alpha-1-Antitrypsin Quantitation (AAT) Test
To diagnose Alpha-1-Antitrypsin deficiency by measuring AAT levels in the blood, aiding in the asses...
Analyzer 26 SMA 26 Test Panel
The purpose of the Analyzer 26 SMA 26 Test Panel is to diagnose spinal muscular atrophy by assessing...
CEBPA Mutation Detection Test
The purpose of the CEBPA Mutation Detection Test is to identify mutations in the CEBPA gene, which c...
Chromosomal Microarray (CMA) 750K High Resolution Test
The purpose of the Chromosomal Microarray (CMA) 750K High Resolution Test is to identify genetic cau...
Cystic Fibrosis Newborn Screen Test
The Cystic Fibrosis Newborn Screen Test is performed to detect elevated levels of Immunoreactive Try...
FISH - Prenatal Comprehensive Screening Panel 1 Test
To detect aneuploidy for Trisomy 13, 18, 21, and sex chromosomes, as well as microdeletions for DiGe...
Genetic Counselling and Genetic Test
The purpose of genetic counselling is to provide personalized guidance on genetic risks, interpret t...
Whole Genome Test
The purpose of the Whole Genome Test is to identify genetic variations that may indicate predisposit...
Hemoglobinopathy Newborn Screen Test
To identify hemoglobinopathies in newborns early for prompt treatment and management, preventing ser...
IMD Panel Quantitative Blood Test
The purpose of the IMD Panel Quantitative Blood Test is to detect and quantify biomarkers associated...
Microarray Gene Chip Scanning Test
For scanning Affymetrix Gene chips to detect genetic abnormalities and mutations for diagnostic and...
Newborn Screening Panel: NBS Quad Test
The NBS Quad Test is designed to screen newborns for four critical conditions: Phenylketonuria (PKU)...
Newborn Screening Panel 7 Test
The purpose of the Newborn Screening Panel 7 Test is to identify seven potentially serious genetic a...
NGS Gen Whole Exome Sequencing Trio Test
The purpose of the NGS Whole Exome Sequencing Trio Test is to perform whole exome sequencing on the...
Newborns Genetic Test Panel NGS Genetic Test
The purpose of the Newborn Genetic Test Panel is to identify genetic disorders early in life, enabli...
SKI Gene Shprintzen-Goldberg syndrome NGS Genetic Test
The purpose of the SKI Gene NGS Genetic Test is to identify mutations in the SKI gene associated wit...
Frozen-2
To diagnose genetic disorders by identifying mutations in DNA.
Chromosomal Microarray 315K (AF/CVS/CB/POC/PB)
The purpose of the Chromosomal Microarray 315K test is to detect genetic abnormalities, such as dele...
Microarray 180K (AF/CVS/CB/POC/PB)
The purpose of the Microarray 180K test is to identify chromosomal abnormalities and genetic variati...
Microarray 750K+ Single Karyotyping (AF/CVS/CB/POC/PB)
The purpose of Microarray 750K+ Single Karyotyping is to identify chromosomal abnormalities that may...
NIPT Microdeletion Test
To screen for fetal microdeletion syndromes non-invasively, aiding in early risk assessment and guid...
Peripheral Blood for Karyotyping (Single)
The purpose of Peripheral Blood for Karyotyping is to analyze chromosomes for numerical or structura...
Sickle Cell Mutation Screening [Prenatal]
The purpose of Sickle Cell Mutation Screening [Prenatal] is to identify the presence of sickle cell...
Spinal Muscular Atrophy Screening [Prenatal]
The purpose of Spinal Muscular Atrophy prenatal screening is to detect SMN1 gene mutations in the fe...
Targeted Mutation Analysis (1 Mutation)
The purpose of Targeted Mutation Analysis is to confirm the presence of a specific genetic mutation...
Targeted Mutation Analysis (2 Mutations)
The purpose of targeted mutation analysis is to detect specific genetic mutations that are associate...
William's Syndrome (Karyotyping+FISH)
To diagnose Williams Syndrome by detecting deletion on chromosome 7q11.23 through karyotyping and FI...
Targeted Sequencing- Below 50 Kb
The purpose of targeted sequencing below 50 Kb is to diagnose genetic disorders by sequencing specif...
Comprehensive Hereditary Cancer Panel - 157 Genes Test
The purpose of this test is to identify genetic variants that increase the risk of hereditary cancer...
CCBE1 Gene Hennekam lymphangiectasia-lymphedema syndrome type 1 NGS Genetic Test
To diagnose Hennekam lymphangiectasia-lymphedema syndrome type 1 by detecting mutations in the CCBE1...
MTRR Gene Spina bifida folate sensitive NGS Genetic Test
The purpose of this test is to identify mutations in the MTRR gene that may increase susceptibility...
Beta Thalassemia Screening [Prenatal]
The purpose of this prenatal screening is to identify whether the fetus has inherited beta thalassem...
Prenatal Delta Beta-Thalassaemia Mutation Screening
The purpose of prenatal delta beta-thalassaemia mutation screening is to determine whether a develop...
HbE (Hemoglobin E) Mutation Screening [Prenatal]
The purpose of HbE prenatal screening is to determine whether the fetus has inherited the HbE mutati...
The Non-Invasive Prenatal (NIPT) Twins Test
The primary purpose of the NIPT Twins Test is to screen for the most common chromosomal aneuploidies...
Dog DNA Test
The primary purpose of the Dog DNA Test is to establish genetic lineage, identify breed composition,...
Horse DNA Test
The primary purpose of the Horse DNA Test is to detect genetic mutations associated with hereditary...
Buffalo DNA Test
The primary purpose of the Buffalo DNA Test is to support livestock health and breeding management....
Genetic Test Counselling
The purpose of genetic test counselling is to provide individuals and families with a clear understa...
DNA Extraction from Solid Tissue - Animal
The purpose of DNA extraction from solid tissue in animals is to isolate high-quality genomic DNA fo...
Cattle Genome Sequencing-30X
The primary purpose of cattle genome sequencing is to provide a complete genetic profile of an indiv...
Alpha-1-Antitrypsin (AAT) Phenotype Test
The purpose of the AAT phenotype test is to diagnose Alpha-1-Antitrypsin deficiency by measuring the...
SCNN1A Gene Bronchiectasis with or without elevated sweat chloride type 2 NGS Genetic Test
To identify pathogenic variants in the SCNN1A gene associated with bronchiectasis and elevated sweat...
Pulmonary panel NGS Genetic Test
To identify genetic mutations associated with respiratory disorders for accurate diagnosis, risk ass...
FLCN Gene Pneumothorax, primary spontaneous NGS Genetic Test
To detect mutations in the FLCN gene associated with primary spontaneous pneumothorax, enabling earl...
DNAI1 Gene Primary ciliary dyskinesia type 1 NGS Genetic Test
The purpose of this test is to confirm the presence of mutations in the DNAI1 gene for diagnosing Pr...
RSPH9 Gene Primary ciliary dyskinesia type 12 NGS Genetic Test
To diagnose primary ciliary dyskinesia type 12 by identifying pathogenic mutations in the RSPH9 gene...
DNAL1 Gene Primary ciliary dyskinesia type 16 NGS Genetic Test
To diagnose primary ciliary dyskinesia type 16 by detecting pathogenic mutations in the DNAL1 gene u...
DNAAF3 Gene Primary ciliary dyskinesia type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the DNAAF3 gene using next-generatio...
ARMC4 Gene Primary ciliary dyskinesia type 23 NGS Genetic Test
To detect mutations in the ARMC4 gene for definitive diagnosis of primary ciliary dyskinesia type 23...
CCDC65 Gene Primary ciliary dyskinesia type 27 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the CCDC65 gene to confirm a diagnosis...
SFTPA1 Gene Pulmonary fibrosis, idiopathic NGS Genetic Test
The purpose of the SFTPA1 Gene Pulmonary Fibrosis NGS Genetic Test is to identify mutations in the S...
BMPR2 Gene Pulmonary venoocclusive disease type 1 NGS Genetic Test
To detect mutations in the BMPR2 gene associated with Pulmonary Venoocclusive Disease Type 1 and Pul...
ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
The purpose of the ASCL1 Gene Central Hypoventilation Syndrome NGS Genetic Test is to identify mutat...
RET Gene Central hypoventilation syndrome, congenital NGS Genetic Test
The purpose of the RET Gene Central Hypoventilation Syndrome NGS Genetic Test is to detect mutations...
ZEB2 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
The purpose of this test is to identify mutations in the ZEB2 gene that cause congenital central hyp...
Amino Acids Qualitative Two Dimensional Urine Test
To qualitatively assess amino acid levels in urine for the diagnosis and monitoring of inborn errors...
Amino Acids Qualitative CSF Test
The purpose of the Amino Acids Qualitative CSF Test is to diagnose and monitor conditions related to...
Succinylacetone Urine Test
To detect succinylacetone in urine for screening and monitoring Hereditary Tyrosinemia Type 1, aidin...
RXFP2 Gene Cryptorchidism NGS Genetic Test
To identify mutations in the RXFP2 gene associated with cryptorchidism, aiding in diagnosis, risk as...
EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test
The purpose of the EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic Test is to detect mutations in...
MNX1 Gene Currarino syndrome NGS Genetic Test
To identify mutations in the MNX1 gene that cause Currarino Syndrome, aiding in diagnosis, treatment...
FGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test
To diagnose FGFR1 gene mutations causing craniosynostosis, enabling early intervention and family pl...
COL2A1 Gene Czech dysplasia NGS Genetic Test
To diagnose Czech Dysplasia by identifying pathogenic mutations in the COL2A1 gene, aiding in clinic...
ERF Gene Craniosynostosis type 4 NGS Genetic Test
The purpose of this test is to identify mutations in the ERF gene for the diagnosis of Craniosynosto...
FGFR2 Gene Craniosynostosis, nonspecific NGS Genetic Test
To identify mutations in the FGFR2 gene associated with craniosynostosis for accurate diagnosis, man...
TCF12 Gene Craniosynostosis type 3 NGS Genetic Test
The purpose of the TCF12 Gene Craniosynostosis Type 3 NGS Genetic Test is to identify mutations in t...
HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test
The purpose of this test is to identify mutations in the HSD17B4 gene to confirm a diagnosis of D-bi...
ANKH Gene Craniometaphyseal dysplasia NGS Genetic Test
To identify pathogenic mutations in the ANKH gene for definitive diagnosis of craniometaphyseal dysp...
VSX1 Gene Craniofacial anomalies and anterior segment dysgenesis syndrome NGS Genetic Test
To identify mutations in the VSX1 gene that cause craniofacial anomalies and anterior segment dysgen...
XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the XYLT1 gene for diagnosing Desbuquois Dyspla...
CANT1 Gene Desbuquois dysplasia type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the CANT1 gene to diagnose Desbuquois dysplasia t...
HMG20B Gene Dysmorphism, HMG20B related NGS Genetic Test
To diagnose HMG20B Gene Dysmorphism by detecting variations in the HMG20B gene using NGS technology.
TBX1 Gene DiGeorge syndrome NGS Genetic Test
To detect deletions or mutations in the TBX1 gene associated with DiGeorge syndrome for accurate dia...
RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic Test
To identify mutations in the RPS28 gene for diagnosis of Diamond Blackfan anemia type 15 with mandib...
EVC Gene Ellis-van Creveld syndrome NGS Genetic Test
The purpose of the EVC Gene NGS Genetic Test is to identify pathogenic mutations in the EVC gene to...
TP63 Gene Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 NGS Genetic Test
The purpose of the TP63 Gene NGS Genetic Test is to detect mutations in the TP63 gene that cause EEC...
COL2A1 Gene Epiphyseal dysplasia, multiple, with myopia and deafness NGS Genetic Test
The purpose of this test is to detect mutations in the COL2A1 gene that cause epiphyseal dysplasia w...
DOK7 Gene Fetal akinesia deformation sequence NGS Genetic Test
To identify mutations in the DOK7 gene for diagnosis of Fetal Akinesia Deformation Sequence.
KAT6B Gene Genitopatellar syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the KAT6B gene to confirm a diagnosis of Genitopa...
RAPSN Gene Fetal akinesia deformation sequence NGS Genetic Test
To identify genetic mutations in the RAPSN gene that cause Fetal Akinesia Deformation Sequence (FADS...
FGD1 Gene Faciogenital dysplasia NGS Genetic Test
To detect mutations in the FGD1 gene for diagnosis of Faciogenital Dysplasia, aiding in clinical man...
MYCN Gene Feingold syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the MYCN gene and other genes associated with F...
WDR73 Gene Galloway-Mowat syndrome NGS Genetic Test
The purpose of the WDR73 Gene Galloway-Mowat Syndrome NGS Genetic Test is to identify mutations in t...
GHR Gene Growth hormone insensitivity, partial NGS Genetic Test
To detect mutations in the GHR gene that cause growth hormone insensitivity, aiding in diagnosis and...
FH Gene Fumarase deficiency NGS Genetic Test
The purpose of this test is to diagnose Fumarase Deficiency by detecting pathogenic variants in the...
PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic Test
To confirm the diagnosis of Lissencephaly type 1 by identifying mutations in the PAFAH1B1 gene using...
ARX Gene Lissencephaly, X-linked type 2 NGS Genetic Test
To identify mutations in the ARX gene for diagnosis of X-linked lissencephaly type 2, enabling early...
FLNB Gene Larsen syndrome NGS Genetic Test
To identify mutations in the FLNB gene for accurate diagnosis, management, and genetic counseling of...
TUBA1A Gene Lissencephaly type 3 NGS Genetic Test
To diagnose TUBA1A gene mutations associated with lissencephaly type 3, enabling accurate identifica...
MYBPC1 Gene Lethal congenital contracture syndrome type 4 NGS Genetic Test
To diagnose Lethal Congenital Contracture Syndrome Type 4 by detecting mutations in the MYBPC1 gene...
LEFTY2 Gene Left-right axis malformations NGS Genetic Test
To diagnose left-right axis malformations caused by LEFTY2 gene mutations, enabling personalized tre...
TP63 Gene Limb-mammary syndrome NGS Genetic Test
The purpose of this test is to diagnose TP63 gene limb-mammary syndrome by detecting mutations in th...
FGFR2 Gene LADD syndrome NGS Genetic Test
To diagnose LADD syndrome by detecting mutations in the FGFR2 gene using Next-Generation Sequencing...
CEP63 Gene Microcephaly, CEP63 related NGS Genetic Test
To detect mutations in the CEP63 gene associated with microcephaly, enabling early diagnosis, geneti...
KNL1 Gene Microcephaly, autosomal recessive type 4 NGS Genetic Test
The purpose of the KNL1 Gene Microcephaly NGS Genetic Test is to confirm a diagnosis of autosomal re...
PHC1 Gene Microcephaly, autosomal recessive type 11 NGS Genetic Test
To diagnose PHC1 gene-related microcephaly through genetic analysis, aiding in clinical management a...
CENPJ Gene Microcephaly, autosomal recessive type 6 NGS Genetic Test
The purpose of the CENPJ Gene Microcephaly NGS Genetic Test is to confirm the diagnosis of autosomal...
MSMO1 Gene Microcephaly, MSMO1 related NGS Genetic Test
The purpose of the MSMO1 Gene Microcephaly NGS Genetic Test is to diagnose genetic mutations in the...
CEP135 Gene Microcephaly, autosomal recessive type 8 NGS Genetic Test
To identify mutations in the CEP135 gene that cause autosomal recessive type 8 microcephaly, aiding...
CDK6 Gene Microcephaly, autosomal recessive type 12 NGS Genetic Test
The purpose of the CDK6 Gene Microcephaly NGS Genetic Test is to detect pathogenic mutations in the...
STIL Gene Microcephaly, autosomal recessive type 7 NGS Genetic Test
The purpose of this test is to detect mutations in the STIL gene associated with autosomal recessive...
QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic Test
The purpose of this test is to detect mutations in the QARS1 gene associated with progressive microc...
RTTN Gene Microcephaly, short stature, and polymicrogyria with seizures NGS Genetic Test
To detect pathogenic mutations in the RTTN gene that cause microcephaly, short stature, and polymicr...
YWHAE Gene Miller Dieker lissencephaly syndrome NGS Genetic Test
To detect mutations in the YWHAE gene for diagnosis of Miller Dieker Lissencephaly Syndrome, enablin...
HNRNPU Gene RNA processing related disorders NGS Genetic Test
To detect mutations in the HNRNPU gene for diagnosis of RNA processing related disorders, aiding in...
FOXG1 Gene Rett syndrome, congenital variant NGS Genetic Test
To confirm the diagnosis of FOXG1 Gene Rett Syndrome congenital variant through comprehensive geneti...
RDH11 Gene Retinal dystrophy, juvenile cataracts, and short stature syndrome NGS Genetic Test
To identify mutations in the RDH11 gene for diagnosis of retinal dystrophy, juvenile cataracts, and...
DHODH Gene Postaxial acrofacial dysostosis NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the DHODH gene to confirm a diagnosi...
CHRM3 Gene Prune belly syndrome NGS Genetic Test
The purpose of this test is to diagnose Prune Belly Syndrome by identifying mutations in the CHRM3 g...
PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 NGS Genetic Test
To detect mutations in the PEX5 gene for the diagnosis of Rhizomelic chondrodysplasia punctata type...
ESCO2 Gene Roberts syndrome NGS Genetic Test
The purpose of the ESCO2 Gene Roberts Syndrome NGS Genetic Test is to confirm the diagnosis of Rober...
DVL1 Gene Robinow syndrome, autosomal dominant type 2 NGS Genetic Test
To diagnose autosomal dominant type 2 Robinow syndrome by detecting mutations in the DVL1 gene using...
WNT5A Gene Robinow syndrome, autosomal dominant type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the WNT5A gene to confirm a diagnosis of Robinow...
GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 NGS Genetic Test
The purpose of the GNPAT Gene RCDP2 NGS Genetic Test is to accurately diagnose Rhizomelic chondrodys...
ROR2 Gene Robinow syndrome, autosomal recessive NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ROR2 gene to confirm a diagnosis...
TWIST1 Gene Saethre-Chotzen syndrome NGS Genetic Test
To diagnose Saethre-Chotzen Syndrome by identifying mutations in the TWIST1 gene using Next-Generati...
ESCO2 Gene SC Phocomelia syndrome NGS Genetic Test
The purpose of the ESCO2 Gene SC Phocomelia Syndrome NGS Genetic Test is to identify mutations in th...
SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Schinzel-Giedion midface retraction syndrome b...
SLC35D1 Gene Schneckenbecken dysplasia NGS Genetic Test
The purpose of the SLC35D1 Gene Schneckenbecken Dysplasia NGS Genetic Test is to confirm a diagnosis...
FGFR2 Gene Scaphocephaly, maxillary retrusion, and mental retardation NGS Genetic Test
To identify mutations in the FGFR2 gene associated with Scaphocephaly, Maxillary Retrusion, and Ment...
TWIST1 Gene Robinow-Sorauf syndrome NGS Genetic Test
To identify mutations in the TWIST1 gene for the diagnosis of Robinow-Sorauf Syndrome, enabling appr...
NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NGS Genetic Test
To identify pathogenic mutations in the NHEJ1 gene responsible for severe combined immunodeficiency...
HESX1 Gene Septooptic dysplasia NGS Genetic Test
The purpose of the HESX1 Gene Septooptic Dysplasia NGS Genetic Test is to identify pathogenic mutati...
WNT4 Gene SERKAL syndrome NGS Genetic Test
To diagnose SERKAL syndrome by detecting mutations in the WNT4 gene using NGS technology, enabling e...
WDR19 Gene Short-rib thoracic dysplasia type 5 with or without polydactyly NGS Genetic Test
The purpose of this test is to diagnose Short-rib thoracic dysplasia type 5 (SRTD5) by detecting pat...
NEK1 Gene Short-rib thoracic dysplasia type 6 with or without polydactyly NGS Genetic Test
The purpose of this test is to detect mutations in the NEK1 gene to confirm diagnosis of short-rib t...
WDR35 Gene Short-rib thoracic dysplasia type 7 with or without polydactyly NGS Genetic Test
The purpose of this test is to identify mutations in the WDR35 gene to confirm a diagnosis of short-...
IFT172 Gene Short-rib thoracic dysplasia type 10 with or without polydactyly NGS Genetic Test
The purpose of this test is to detect mutations in the IFT172 gene to confirm a diagnosis of Short-r...
TTC21B Gene Short-rib thoracic dysplasia type 4 with or without polydactyly NGS Genetic Test
The purpose of the TTC21B Gene SRTD4 NGS Genetic Test is to identify mutations in the TTC21B gene th...
WDR60 Gene Short-rib thoracic dysplasia type 8 with or without polydactyly NGS Genetic Test
To identify genetic mutations in the WDR60 gene that cause Short-rib thoracic dysplasia type 8, aidi...
DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly NGS Genetic Test
To diagnose Short-rib thoracic dysplasia type 3 with or without polydactyly by identifying pathogeni...
WDR34 Gene Short-rib thoracic dysplasia type 11 with or without polydactyly NGS Genetic Test
To diagnose Short-Rib Thoracic Dysplasia Type 11 with or without Polydactyly by detecting mutations...
maternal UPD chr. 7 Gene Silver-Russell syndrome NGS Genetic Test
To accurately diagnose Silver-Russell Syndrome by detecting maternal UPD of chromosome 7 and other g...
ZIC5 Gene ZIC5 related brain disorders NGS Genetic Test
The purpose of the ZIC5 Gene NGS Genetic Test is to detect pathogenic variants in the ZIC5 gene, aid...
GPC3 Gene Simpson-Golabi-Behmel syndrome type 1 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the GPC3 gene in individuals wit...
Dysmorphology Panel NGS Genetic Test
The primary purpose of the Dysmorphology Panel NGS Genetic Test is to identify the genetic basis of...
COL2A1 Gene Achondrogenesis type 2 NGS Genetic Test
The purpose of this test is to diagnose Achondrogenesis type 2 by identifying mutations in the COL2A...
Noonan - RASophathies Panel NGS Genetic Test
To identify genetic mutations associated with Noonan syndrome and related RASopathies for diagnostic...
NPR2 Gene Acromesomelic dysplasia, Maroteaux type NGS Genetic Test
The purpose of this test is to detect mutations in the NPR2 gene for the diagnosis of acromesomelic...
GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic Test
To diagnose Alacrima, Achalasia and Mental Retardation Syndrome (GAARS) by detecting mutations in th...
LARP7 Gene Alazami syndrome NGS Genetic Test
To diagnose Alazami syndrome by identifying mutations in the LARP7 gene using NGS technology.
TP63 Gene Ankyloblepharon-ectodermal defects-cleft lip/palate NGS Genetic Test
The purpose of this test is to identify mutations in the TP63 gene to confirm a diagnosis of Ankylob...
FGFR2 Gene Apert syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FGFR2 gene to confirm a diagnosi...
FGFR2 Gene Antley-Bixler syndrome NGS Genetic Test
The purpose of the FGFR2 Gene Antley-Bixler Syndrome NGS Genetic Test is to detect mutations in the...
HOXA1 Gene Athabaskan brainstem dysgenesis syndrome NGS Genetic Test
The purpose of this test is to diagnose Athabaskan Brainstem Dysgenesis Syndrome by detecting mutati...
NKX2-5 Gene Atrial septal defect with atrioventricular conduction defects NGS Genetic Test
To detect mutations in the NKX2-5 gene associated with atrial septal defect and atrioventricular con...
PLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic Test
To detect mutations in the PLCB4 gene for diagnosis of Auriculocondylar Syndrome Type 2.
FOXC1 Gene Axenfeld-Rieger syndrome type 3 NGS Genetic Test
To detect mutations in the FOXC1 gene for accurate diagnosis of Axenfeld-Rieger Syndrome Type 3, fac...
ASXL3 Gene Bainbridge-Ropers syndrome NGS Genetic Test
To detect mutations in the ASXL3 gene associated with Bainbridge-Ropers Syndrome for diagnostic conf...
ACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic Test
The purpose of this test is to diagnose Baraitser-Winter Syndrome Type 1 by detecting pathogenic mut...
ACTG1 Gene Baraitser-Winter syndrome type 2 NGS Genetic Test
The purpose of this test is to diagnose Baraitser-Winter Syndrome Type 2 by detecting pathogenic mut...
SUFU Gene Basal cell nevus syndrome NGS Genetic Test
To detect mutations in the SUFU gene for diagnosis, risk assessment, and management of Basal Cell Ne...
SLC20A2 Gene Basal ganglia calcification type 1, ideopathic NGS Genetic Test
To identify mutations in the SLC20A2 gene associated with basal ganglia calcification type 1 for dia...
BMP2 Gene Brachydactyly type A2 NGS Genetic Test
The purpose of the BMP2 Gene Brachydactyly type A2 NGS Genetic Test is to detect mutations in the BM...
HOXD13 Gene Brachydactyly type E1 NGS Genetic Test
To identify mutations in the HOXD13 gene for diagnosis and genetic counseling of Brachydactyly Type...
HOXD13 Gene Brachydactyly-syndactyly syndrome NGS Genetic Test
To diagnose brachydactyly-syndactyly syndrome by detecting mutations in the HOXD13 gene using NGS te...
HDAC4 Gene Brachydactyly-mental retardation syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the HDAC4 gene to diagnose Brachydactyly-mental r...
SOX9 Gene Campomelic dysplasia NGS Genetic Test
To detect mutations in the SOX9 gene associated with Campomelic Dysplasia for accurate diagnosis, ma...
CD96 Gene C syndrome NGS Genetic Test
The purpose of the CD96 Gene C Syndrome NGS Genetic Test is to identify mutations in the CD96 gene t...
RAB23 Gene Carpenter syndrome NGS Genetic Test
The purpose of the RAB23 Gene Carpenter Syndrome NGS Genetic Test is to confirm the diagnosis of Car...
VANGL1 Gene Caudal regression syndrome NGS Genetic Test
To detect mutations in the VANGL1 gene associated with Caudal Regression Syndrome for accurate diagn...
PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic Test
The purpose of this test is to identify mutations in the PHOX2B gene that cause Central Hypoventilat...
ECE1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
The purpose of this test is to diagnose congenital central hypoventilation syndrome caused by mutati...
PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic Test
To diagnose Central Hypoventilation Syndrome (CHS) by detecting mutations in the PHOX2A gene using N...
CHD7 Gene CHARGE syndrome NGS Genetic Test
The purpose of this test is to diagnose CHARGE syndrome by detecting pathogenic variants in the CHD7...
PIGL Gene CHIME syndrome NGS Genetic Test
To diagnose CHIME syndrome by identifying pathogenic mutations in the PIGL gene using next-generatio...
PITX1 Gene Club foot NGS Genetic Test
To identify mutations in the PITX1 gene associated with clubfoot, enabling genetic diagnosis, risk a...
BMPR1B Gene Chrondrodysplasia, acromesomelic, with genital anomalies NGS Genetic Test
To diagnose Chondrodysplasia, Acromesomelic, with Genital Anomalies (CAMGA) by identifying mutations...
MEIS2 Gene Cleft palate, cardiac defects, and mental retardation NGS Genetic Test
To identify mutations in the MEIS2 gene for diagnosis of associated developmental disorders, facilit...
CRLF1 Gene Cold-induced sweating syndrome NGS Genetic Test
To diagnose Cold-Induced Sweating Syndrome by detecting mutations in the CRLF1 gene using Next-Gener...
SMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic Test
The purpose of this test is to detect mutations in the SMARCE1 gene to confirm a diagnosis of Coffin...
LAMC3 Gene Cortical malformations, occipital NGS Genetic Test
To identify mutations in the LAMC3 gene causing cortical malformations for accurate diagnosis and ma...
ARX Gene Corpus callosum, agenesis of, with abnormal genitalia NGS Genetic Test
To diagnose mutations in the ARX gene associated with corpus callosum agenesis and abnormal genitali...
TBX15 Gene Cousin syndrome NGS Genetic Test
To diagnose Cousin syndrome by detecting mutations in the TBX15 gene using NGS technology.
HRAS Gene Costello syndrome NGS Genetic Test
The purpose of the HRAS Gene Costello Syndrome NGS Genetic Test is to identify pathogenic mutations...
IFT43 Gene Cranioectodermal dysplasia type 3 NGS Genetic Test
To detect mutations in the IFT43 gene for diagnosis of Cranioectodermal dysplasia type 3 and to aid...
IL11RA Gene Craniosynostosis and dental anomalies NGS Genetic Test
To identify mutations in the IL11RA gene that cause craniosynostosis and dental anomalies, aiding in...
WNT7A Gene Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly NGS Genetic Test
To identify mutations in the WNT7A gene for accurate diagnosis of fibular aplasia, femoral bowing, a...
FREM2 Gene Fraser syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the FREM2 gene that cause Fraser Syndrome, enab...
ALX4 Gene Frontonasal dysplasia type 2 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the ALX4 gene to confirm a diagnosis o...
ALX3 Gene Frontonasal dysplasia type 1 NGS Genetic Test
The purpose of the ALX3 Gene Frontonasal Dysplasia Type 1 NGS Genetic Test is to identify mutations...
IRX5 Gene Hamamy syndrome NGS Genetic Test
To diagnose Hamamy Syndrome by detecting pathogenic mutations in the IRX5 gene using NGS technology.
FTO Gene Growth retardation, developmental delay, facial dysmorphism NGS Genetic Test
To detect mutations in the FTO gene responsible for growth retardation, developmental delay, and fac...
HOXA13 Gene Guttmacher syndrome NGS Genetic Test
To detect mutations in the HOXA13 gene for diagnosis of Guttmacher Syndrome.
FGFR1 Gene Hartsfield syndrome NGS Genetic Test
To diagnose Hartsfield syndrome by detecting pathogenic mutations in the FGFR1 gene using next-gener...
HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test
To identify mutations in the HOXA13 gene for diagnosis of Hand-Foot-Uterus syndrome, aiding in clini...
LMNA Gene Heart-hand syndrome, Slovenian type NGS Genetic Test
To diagnose LMNA gene mutations causing heart-hand syndrome, Slovenian type, enabling early manageme...
ZIC3 Gene Heterotaxy, visceral type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the ZIC3 gene that cause heterotaxy, visceral typ...
MMP21 Gene Heterotaxy, visceral type 7 NGS Genetic Test
The purpose of this test is to diagnose MMP21 Gene Heterotaxy, Visceral Type 7 by identifying mutati...
PKD1L1 Gene Heterotaxy, visceral type 8, autosomal NGS Genetic Test
To identify pathogenic mutations in the PKD1L1 gene for the diagnosis of Heterotaxy, Visceral Type 8...
ECE1 Gene Hirschsprung disease NGS Genetic Test
The purpose of the ECE1 Gene Hirschsprung Disease NGS Genetic Test is to diagnose Hirschsprung disea...
BCL9L Gene Heterotaxy, visceral, BCL9L related NGS Genetic Test
The purpose of the BCL9L Gene Heterotaxy Test is to identify mutations in the BCL9L gene that cause...
NRG1 Gene Hirschsprung disease NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the NRG1 gene to confirm or rule out a...
EDNRB Gene Hirschsprung disease NGS Genetic Test
The purpose of this test is to detect mutations in the EDNRB gene that cause Hirschsprung disease, e...
RET Gene Hirschsprung disease NGS Genetic Test
To identify mutations in the RET gene associated with Hirschsprung disease for accurate diagnosis, r...
KIF1BP Gene Hirschsprung disease NGS Genetic Test
The purpose of the KIF1BP Gene Hirschsprung Disease NGS Genetic Test is to identify pathogenic mutat...
NRTN Gene Hirschsprung disease NGS Genetic Test
The purpose of this test is to identify mutations in the NRTN gene that may cause Hirschsprung disea...
ZEB2 Gene Hirschsprung disease NGS Genetic Test
To detect pathogenic mutations in the ZEB2 gene for the diagnosis and management of Hirschsprung dis...
GDNF Gene Hirschsprung disease, type 3, susceptibility to NGS Genetic Test
To identify mutations in the GDNF gene associated with Hirschsprung disease type 3 for accurate diag...
GLI2 Gene Holoprosencephaly-type 9 NGS Genetic Test
To detect pathogenic mutations in the GLI2 gene for the diagnosis of Holoprosencephaly-type 9, aidin...
TBX5 Gene Holt-Oram syndrome NGS Genetic Test
To identify mutations in the TBX5 gene for accurate diagnosis of Holt-Oram syndrome, aiding in clini...
CDON Gene Holoprosencephaly type 11 NGS Genetic Test
The purpose of the CDON Gene Holoprosencephaly Type 11 NGS Genetic Test is to identify mutations in...
LMNA Gene Hutchinson-Gilford progeria NGS Genetic Test
The purpose of this test is to identify mutations in the LMNA gene that cause Hutchinson-Gilford Pro...
FGFR1 Gene Jackson-Weiss syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the FGFR1 gene that cause Jackson-Weiss syndrom...
RBBP8 Gene Jawad syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Jawad Syndrome by identifying pathoge...
ANKRD11 Gene KBG syndrome NGS Genetic Test
The primary purpose of the ANKRD11 Gene KBG Syndrome NGS Genetic Test is to confirm or rule out a di...
FGF10 Gene LADD syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FGF10 gene that are associated w...
PIEZO2 Gene Marden-Walker syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Marden-Walker syndrome by identifying...
MED13L Gene Mental retardation and distinctive facial features with or without cardiac defects NGS Genetic Test
The purpose of this test is to identify mutations in the MED13L gene that are associated with intell...
CDT1 Gene Meier-Gorlin syndrome type 4 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Meier-Gorlin syndrome type 4 by ident...
SOS1 Gene Noonan syndrome type 4 NGS Genetic Test
The purpose of the SOS1 gene NGS genetic test is to confirm a clinical diagnosis of Noonan syndrome...
MSX2 Gene Parietal foramina type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of parietal foramina type 1 by identifyi...
FGFR1 Gene Pfeiffer syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the FGFR1 gene that cause Pfeiffer sy...
ATRIP Gene Seckel syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the ATRIP gene that cause Seckel synd...
NFIX Gene Sotos-like syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the NFIX gene that cause Sotos-like s...
PAX9 Gene Tooth agenesis, selective type 3 NGS Genetic Test
The purpose of this test is to identify mutations in the PAX9 gene that cause selective tooth agenes...
MSX1 Gene Tooth agenesis, selective type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MSX1 gene that are associated wit...
POLR1D Gene Treacher Collins syndrome type 2 NGS Genetic Test
The purpose of the POLR1D gene NGS genetic test is to identify mutations in the POLR1D gene that cau...
chr. 7q11.23 Gene Williams-Beuren syndrome NGS Genetic Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of Williams-Beuren syndrome...
Amino Acids Qualitative Urine & Plasma Test
The purpose of the Amino Acids Qualitative Urine & Plasma Test is to identify abnormalities in amino...
Canavan Disease Test
The purpose of the Canavan Disease Test is to screen for elevated levels of N-acetylaspartic acid (N...
Galactose Quantitative Plasma Test
To quantitatively measure galactose levels in plasma for the diagnosis and monitoring of galactosemi...
Galactose-1-Phosphate Quantitative Blood Test
This test is useful for monitoring dietary therapy for Classic Galactosemia, Galactosemia-Duarte var...
Galactosemia Panel 3 Test
To diagnose galactosemia by analyzing genetic mutations in the GALT, GALK1, and GALE genes, aiding i...
Galactosemia Panel 1 Test
To screen for and diagnose galactosemia, particularly classical galactosemia due to GALT deficiency,...
Galactosemia Classical (Transferase) Quantitative Blood Test
The purpose of this test is to quantitatively assess GALT enzyme activity in the blood to diagnose c...
Galactosemia (Epimerase) Quantitative Blood Test
The purpose of the Galactosemia (Epimerase) Quantitative Blood Test is to quantitatively measure gal...
Galactosemia Panel 2 Test
The primary purpose of the Galactosemia Panel 2 Test is to diagnose galactosemia by detecting mutati...
Galactosemia (GALT) Gene Mutation Detection Test
The purpose of the Galactosemia (GALT) Gene Mutation Detection Test is to identify mutations in the...
Gaucher Disease Quantitative Blood Test
The purpose of the Gaucher Disease Quantitative Blood Test is to diagnose Gaucher Disease by measuri...
GM2 Gangliosidosis Quantitative Blood Tay Sachs & Sandhoff Disease Test
To quantitatively measure hexosaminidase A and B enzyme levels in the blood for diagnosing Tay-Sachs...
GM1 Gangliosidosis Quantitative Blood Test
The purpose of the GM1 Gangliosidosis Quantitative Blood Test is to detect and quantify the level of...
HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test
To diagnose HHH Syndrome by detecting elevated levels of ornithine in blood, ammonia in blood, and h...
Metachromatic Leucodystrophy Quantitative Blood Test
The purpose of this test is to diagnose Metachromatic Leukodystrophy by measuring arylsulfatase A (A...
Mucopolysaccharidosis (MPS) Type VI (Maroteaux Lamy) Quantitative Blood Test
To quantitatively measure the activity of arylsulfatase B enzyme in the blood, aiding in the diagnos...
Mucopolysaccharidosis (MPS) Type 1 (Hurler) Quantitative Blood Test
The purpose of the MPS Type 1 Quantitative Blood Test is to measure the activity level of the enzyme...
Niemann Pick Disease Quantitative Blood Test
To diagnose Niemann-Pick Disease by measuring Acid Sphingomyelinase (ASM) enzyme activity in the blo...
Nx Gen Sequencing: Alkaptonuria Test
The purpose of this test is to identify mutations in the HGD gene associated with alkaptonuria, enab...
POLG Gene Mitochondrial DNA depletion syndrome type 4A NGS Genetic Test
To identify pathogenic mutations in the POLG gene for definitive diagnosis of Mitochondrial DNA Depl...
Metabolic Disorders Wide Range Panel NGS Genetic Test
The purpose of this test is to identify genetic mutations causing metabolic disorders through NGS, f...
MPS Enzyme Panel NGS Genetic Test
To diagnose Mucopolysaccharidoses (MPS) by identifying genetic mutations using NGS technology, aidin...
Sphingo Enzyme Panel NGS Genetic Test
The purpose of the Sphingo Enzyme Panel NGS Genetic Test is to detect mutations in genes encoding sp...
ACADS Gene Acyl-CoA short-chain dehydrogenase deficiency NGS Genetic Test
To diagnose Acyl-CoA Short-Chain Dehydrogenase Deficiency by identifying pathogenic variants in the...
ACADVL Gene Acyl-CoA very long-chain dehydrogenase deficiency NGS Genetic Test
To detect pathogenic mutations in the ACADVL gene for diagnosis of Acyl-CoA Very Long-Chain Dehydrog...
ALDH2 Gene Acute Alcohol sensitivity NGS Genetic Test
The purpose of this test is to detect genetic mutations in the ALDH2 gene that cause acute alcohol s...
MTTP Gene Abetalipoproteinemia NGS Genetic Test
To identify mutations in the MTTP gene associated with abetalipoproteinemia for accurate diagnosis,...
ETFB Gene Acyl-CoA multiple dehydrogenase deficiency NGS Genetic Test
The purpose of the ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic Test is to diagn...
ALAD Gene Acute hepatic porphyria NGS Genetic Test
To detect mutations in the ALAD gene that cause Acute Hepatic Porphyria, enabling accurate diagnosis...
SERAC1 Gene 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome NGS Genetic Test
To confirm a genetic diagnosis of 3-methylglutaconic aciduria with deafness, encephalopathy, and Lei...
APRT Gene Adenine phosphoribosyltransferase deficiency NGS Genetic Test
The purpose of this test is to diagnose APRT deficiency by identifying genetic mutations in the APRT...
A2M Gene Alpha-2-macroglobulin deficiency NGS Genetic Test
To diagnose A2M deficiency through genetic analysis, enabling early intervention, risk assessment, a...
CYP11B1 Gene Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency NGS Genetic Test
To identify mutations in the CYP11B1 gene for diagnosis, carrier screening, and management of adrena...
POR Gene Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NGS Genetic Test
The purpose of the POR Gene NGS Genetic Test is to diagnose adrenal hyperplasia due to cytochrome P4...
OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency NGS Genetic Test
The purpose of this test is to diagnose OGDH gene mutations causing alpha-ketoglutarate dehydrogenas...
ATIC Gene AICA-ribosiduria due to ATIC deficiency NGS Genetic Test
To diagnose AICA-ribosiduria due to ATIC deficiency by detecting pathogenic mutations in the ATIC ge...
NR0B1 Gene Adrenal hypoplasia NGS Genetic Test
To diagnose adrenal hypoplasia by detecting mutations in the NR0B1 gene using NGS technology, guidin...
UPD chr. 6 Gene 6q24-related transient neonatal diabetes mellitus type 1 NGS Genetic Test
This test is performed to identify genetic abnormalities at the chromosome 6q24 region, including pa...
HGD Gene Alkaptonuria NGS Genetic Test
To detect mutations in the HGD gene for the diagnosis of alkaptonuria, enabling early intervention,...
AMACR Gene Alpha-methylacyl CoA racemase deficiency NGS Genetic Test
To diagnose Alpha-methylacyl CoA racemase deficiency by detecting mutations in the AMACR gene throug...
GBE1 Gene Andersen disease NGS Genetic Test
To diagnose Andersen disease by identifying mutations in the GBE1 gene using next-generation sequenc...
SEC23B Gene Anemia dyserythropoietic type 2 NGS Genetic Test
To accurately detect mutations in the SEC23B gene for definitive diagnosis of Anemia Dyserythropoiet...
ACY1 Gene Aminoacylase deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ACY1 gene using next-generation...
SERPINA1 Gene Antitrypsin-alpha-1 deficiency NGS Genetic Test
The purpose of the SERPINA1 Gene Antitrypsin-alpha-1 Deficiency NGS Genetic Test is to identify muta...
ABCD3 Gene Bile acid synthesis defect type 5, congenital NGS Genetic Test
The purpose of this test is to diagnose ABCD3 Gene Bile Acid Synthesis Defect Type 5 by detecting mu...
CPS1 Gene Carbamoylphosphate synthetase I deficiency NGS Genetic Test
To identify mutations in the CPS1 gene that cause Carbamoylphosphate Synthetase I Deficiency, enabli...
BCHE Gene Butyrylcholinesterase deficiency NGS Genetic Test
The purpose of the BCHE Gene Butyrylcholinesterase deficiency NGS Genetic Test is to diagnose geneti...
BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency NGS Genetic Test
To diagnose BCKDK gene deficiency, identify pathogenic mutations, and guide clinical management, gen...
BTD Gene Biotinidase deficiency NGS Genetic Test
The purpose of the BTD Gene Biotinidase Deficiency NGS Genetic Test is to diagnose biotinidase defic...
SLC22A5 Gene Carnitine deficiency NGS Genetic Test
To diagnose carnitine deficiency caused by SLC22A5 gene mutations, enabling targeted treatment and g...
BCAT2 Gene Branched-chain aminotransferase 2 deficiency NGS Genetic Test
The purpose of the BCAT2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic varian...
CPT2 Gene Carnitine palmitoyltransferase 2 deficiency, infantile NGS Genetic Test
The purpose of the CPT2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic variant...
CLN5 Gene Ceroid lipofuscinosis neuronal type 5 NGS Genetic Test
To diagnose CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 by detecting mutations in the CLN5 gene...
MT-RNR2 Gene Chloramphenicol resistance, MT-RNR2 related NGS Genetic Test
To diagnose chloramphenicol resistance by identifying mutations in the MT-RNR2 gene through NGS sequ...
DNAJC5 Gene Ceroid lipofuscinosis neuronal type 4 NGS Genetic Test
To provide a definitive diagnosis of Ceroid Lipofuscinosis Neuronal Type 4 (CLN4) by identifying mut...
ABHD5 Gene Chanarin-Dorfman syndrome NGS Genetic Test
The purpose of the ABHD5 Gene Chanarin-Dorfman Syndrome NGS Genetic Test is to identify mutations in...
TPP1 Gene Ceroid lipofuscinosis neuronal type 2 NGS Genetic Test
The TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic Test is performed to confirm a clini...
ABCB11 Gene Cholestasis benign recurrent intrahepatic type 2 NGS Genetic Test
The primary purpose of this test is to identify mutations in the ABCB11 gene that cause Benign Recur...
ATP8B1 Gene Cholestasis progressive intrahepatic type 1 NGS Genetic Test
To identify mutations in the ATP8B1 gene that cause progressive intrahepatic cholestasis type 1, aid...
ABCB11 Gene Cholestasis progressive intrahepatic type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the ABCB11 gene that cause Progressive Intrahep...
ATP8B1 Gene Cholestasis, benign recurrent intrahepatic NGS Genetic Test
The purpose of this test is to identify mutations in the ATP8B1 gene to confirm a diagnosis of Benig...
ATP8B1 Gene Cholestasis, intrahepatic, of pregnancy, type 1 NGS Genetic Test
The purpose of this test is to confirm the genetic basis of intrahepatic cholestasis of pregnancy ty...
ABCB4 Gene Cholestasis progressive intrahepatic type 3 NGS Genetic Test
To identify mutations in the ABCB4 gene responsible for progressive intrahepatic cholestasis type 3,...
ASS1 Gene Citrullinemia NGS Genetic Test
To identify mutations in the ASS1 gene associated with citrullinemia type I for diagnostic and carri...
SAR1B Gene Chylomicron retention disease NGS Genetic Test
To identify mutations in the SAR1B gene responsible for chylomicron retention disease, enabling earl...
GFM1 Gene Combined oxidative phosphorylation deficiency type 1 NGS Genetic Test
The purpose of this test is to diagnose combined oxidative phosphorylation deficiency type 1 by iden...
RMND1 Gene Combined oxidative phosphorylation deficiency type 11 NGS Genetic Test
The purpose of the RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 NGS Genetic Test...
MTFMT Gene Combined oxidative phosphorylation deficiency type 15 NGS Genetic Test
To diagnose Combined oxidative phosphorylation deficiency type 15 by detecting mutations in the MTFM...
VARS2 Gene Combined oxidative phosphorylation deficiency type 20 NGS Genetic Test
The purpose of this test is to diagnose Combined Oxidative Phosphorylation Deficiency Type 20 by ide...
MRPS16 Gene Combined oxidative phosphorylation deficiency type 2 NGS Genetic Test
To diagnose mutations in the MRPS16 gene that cause Combined Oxidative Phosphorylation Deficiency Ty...
LYRM4 Gene Combined oxidative phosphorylation deficiency type 19 NGS Genetic Test
The purpose of this test is to diagnose COXPD19 by detecting mutations in the LYRM4 gene using NGS t...
PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 NGS Genetic Test
The purpose of the PNPT1 Gene COXPD13 NGS Genetic Test is to identify pathogenic or likely pathogeni...
FARS2 Gene Combined oxidative phosphorylation deficiency type 14 NGS Genetic Test
To identify mutations in the FARS2 gene responsible for combined oxidative phosphorylation deficienc...
EARS2 Gene Combined oxidative phosphorylation deficiency type 12 NGS Genetic Test
The purpose of the EARS2 Gene COXPD Type 12 NGS Genetic Test is to identify pathogenic mutations in...
ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic Test
To diagnose Combined Oxidative Phosphorylation Deficiency Type 22 by detecting mutations in the ATP5...
GTPBP3 Gene Combined oxidative phosphorylation deficiency type 23 NGS Genetic Test
To diagnose combined oxidative phosphorylation deficiency type 23 (COXPD23) by identifying pathogeni...
MARS2 Gene Combined oxidative phosphorylation deficiency type 25 NGS Genetic Test
To identify pathogenic variants in the MARS2 gene for diagnosis of Combined oxidative phosphorylatio...
MTO1 Gene Combined oxidative phosphorylation deficiency type 10 NGS Genetic Test
The purpose of the MTO1 Gene COXPD10 NGS Genetic Test is to identify pathogenic or likely pathogenic...
TUFM Gene Combined oxidative phosphorylation deficiency type 4 NGS Genetic Test
To detect pathogenic mutations in the TUFM gene that cause combined oxidative phosphorylation defici...
SFXN4 Gene Combined oxidative phosphorylation deficiency type 18 NGS Genetic Test
The purpose of the SFXN4 Gene COXPD18 NGS Genetic Test is to identify pathogenic or likely pathogeni...
TSFM Gene Combined oxidative phosphorylation deficiency type 3 NGS Genetic Test
The purpose of the TSFM Gene COXPD3 NGS Genetic Test is to diagnose Combined Oxidative Phosphorylati...
NARS2 Gene Combined oxidative phosphorylation deficiency type 24 NGS Genetic Test
This test is performed to identify pathogenic mutations in the NARS2 gene responsible for Combined O...
AIFM1 Gene Combined oxidative phosphorylation deficiency type 6 NGS Genetic Test
To identify mutations in the AIFM1 gene that cause Combined Oxidative Phosphorylation Deficiency Typ...
AARS2 Gene Combined oxidative phosphorylation deficiency type 8 NGS Genetic Test
To identify mutations in the AARS2 gene for the diagnosis of Combined Oxidative Phosphorylation Defi...
MRPL3 Gene Combined oxidative phosphorylation deficiency type 9 NGS Genetic Test
The purpose of the MRPL3 Gene COXPD9 NGS Genetic Test is to detect pathogenic mutations in the MRPL3...
ALG11 Gene Congenital disorder of glycosylation, type Ip NGS Genetic Test
To diagnose congenital disorder of glycosylation type Ip caused by mutations in the ALG11 gene using...
SRD5A3 Gene Congenital disorder of glycosylation, type Iq NGS Genetic Test
The purpose of the SRD5A3 Gene CDG Type Iq NGS Genetic Test is to identify pathogenic or likely path...
SLC6A8 Gene Creatine deficiency syndrome X-linked NGS Genetic Test
The purpose of this test is to identify mutations in the SLC6A8 gene that cause creatine deficiency...
CTNS Gene Cystinosis, nephropathic NGS Genetic Test
The purpose of the CTNS gene cystinosis nephropathic NGS genetic test is to identify pathogenic muta...
MRPS22 Gene Combined oxidative phosphorylation deficiency type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the MRPS22 gene to diagnose Combined Oxidative Ph...
HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test
The primary purpose of the HSD17B4 Gene NGS Genetic Test is to confirm or rule out a diagnosis of D-...
SLC26A3 Gene Diarrhea type 1, secretory chloride, congenital NGS Genetic Test
To diagnose Diarrhea Type 1 caused by mutations in the SLC26A3 gene using Next-Generation Sequencing...
GLYCTK Gene D-glyceric aciduria NGS Genetic Test
The purpose of the GLYCTK Gene D-glyceric aciduria NGS Genetic Test is to identify pathogenic or lik...
SPINT2 Gene Diarrhea type 3, secretory sodium, congenital, syndromic NGS Genetic Test
The purpose of the SPINT2 Gene Diarrhea Type 3 NGS Genetic Test is to detect mutations in the SPINT2...
GLA Gene Fabry disease NGS Genetic Test
The purpose of this test is to identify mutations in the GLA gene that cause Fabry disease, enabling...
DPYS Gene Dihydropyrimidinuria NGS Genetic Test
This test is used to identify pathogenic mutations in the DPYS gene for definitive diagnosis of dihy...
FANCL Gene Fanconi anemia type L NGS Genetic Test
To diagnose Fanconi anemia type L by detecting mutations in the FANCL gene using advanced NGS techno...
SLC2A5 Gene Fructose uptake deficiency, SLC2A5 related NGS Genetic Test
The purpose of this test is to identify mutations in the SLC2A5 gene that cause fructose uptake defi...
ASAH1 Gene Farber disease NGS Genetic Test
This test is designed for the molecular diagnosis of Farber disease by sequencing the ASAH1 gene to...
SLX4 Gene Fanconi anemia type P NGS Genetic Test
To diagnose Fanconi Anemia Type P by identifying mutations in the SLX4 gene using NGS technology, ai...
SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic Test
To diagnose Fanconi-Bickel Syndrome by detecting pathogenic mutations in the SLC2A2 gene using Next-...
G6PD Gene Favism, susceptibility to NGS Genetic Test
To detect mutations in the G6PD gene for accurate diagnosis of Favism susceptibility, enabling targe...
ALDOB Gene Fructose intolerance NGS Genetic Test
The purpose of the ALDOB Gene Fructose Intolerance NGS Genetic Test is to detect mutations in the AL...
FH Gene Fumarase deficiency NGS Genetic Test
To diagnose Fumarase Deficiency by detecting pathogenic mutations in the FH gene using NGS technolog...
FUCA1 Gene Fucosidosis NGS Genetic Test
The purpose of this test is to accurately detect pathogenic mutations in the FUCA1 gene to diagnose...
FBP1 Gene Fructose-1,6-bisphosphatase deficiency NGS Genetic Test
To detect mutations in the FBP1 gene for diagnosis of Fructose-1,6-bisphosphatase deficiency, enabli...
GALE Gene Galactose epimerase deficiency NGS Genetic Test
To diagnose galactose epimerase deficiency by detecting pathogenic mutations in the GALE gene using...
ABAT Gene GABA-transaminase deficiency NGS Genetic Test
This test identifies mutations in the ABAT gene responsible for GABA-transaminase deficiency, aiding...
GALT Gene Galactosemia NGS Genetic Test
To diagnose galactosemia by identifying mutations in the GALT gene, confirm suspected cases based on...
GBA Gene Gaucher disease type 1 NGS Genetic Test
To diagnose Gaucher Disease Type 1 by identifying mutations in the GBA gene, enabling early interven...
GBA Gene Gaucher disease type 3 NGS Genetic Test
To diagnose Gaucher disease type 3 by detecting mutations in the GBA gene using NGS technology, aidi...
CTSA Gene Galactosialidosis NGS Genetic Test
The purpose of the CTSA Gene Galactosialidosis NGS Genetic Test is to identify mutations in the CTSA...
ABCB4 Gene Gallbladder disease type 1 NGS Genetic Test
The purpose of the ABCB4 Gene Gallbladder Disease Type 1 NGS Genetic Test is to identify mutations o...
MRAP Gene Glucocorticoid deficiency type 2 NGS Genetic Test
The primary purpose of this test is to confirm a molecular diagnosis of familial glucocorticoid defi...
GBA Gene Gaucher disease type 2 NGS Genetic Test
The primary purpose of this test is to detect pathogenic mutations in the GBA gene that cause Gauche...
MC2R Gene Glucocorticoid deficiency type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the MC2R gene that cause glucocorticoid deficienc...
NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test
The purpose of this test is to identify mutations in the NNT gene using NGS technology for accurate...
GALK1 Gene Galactokinase deficiency NGS Genetic Test
To identify pathogenic mutations in the GALK1 gene for definitive diagnosis of galactokinase deficie...
GCDH Gene Glutaric acidemia type 1 NGS Genetic Test
To diagnose Glutaric Acidemia Type 1 by detecting mutations in the GCDH gene, enabling early treatme...
GLUL Gene Glutamine deficiency, congenital NGS Genetic Test
The purpose of this test is to diagnose congenital glutamine deficiency by identifying mutations in...
GBA Gene Gaucher disease type 3C NGS Genetic Test
The purpose of the GBA Gene Gaucher Disease Type 3C NGS Genetic Test is to identify pathogenic mutat...
FTCD Gene Glutamate formiminotransferase deficiency NGS Genetic Test
To diagnose FTCD gene glutamate formiminotransferase deficiency through genetic analysis, enabling e...
GSS Gene Glutathione synthetase deficiency NGS Genetic Test
To diagnose glutathione synthetase deficiency by identifying pathogenic mutations in the GSS gene th...
PGAM2 Gene Glycogen storage disease type 10 NGS Genetic Test
To identify pathogenic mutations in the PGAM2 gene for accurate diagnosis of glycogen storage diseas...
PRKAG2 Gene Glycogen storage disease of heart (lethal) NGS Genetic Test
The purpose of the PRKAG2 Gene Glycogen Storage Disease of Heart NGS Genetic Test is to detect mutat...
ALDOA Gene Glycogen storage disease type 12 NGS Genetic Test
The purpose of the ALDOA Gene Glycogen Storage Disease Type 12 NGS Genetic Test is to identify mutat...
LDHA Gene Glycogen storage disease type 11 NGS Genetic Test
The primary purpose of this test is to diagnose Glycogen Storage Disease Type 11 (GSD11) by identify...
GYS1 Gene Glycogen storage disease type 0 muscle NGS Genetic Test
To diagnose Glycogen Storage Disease Type 0 caused by mutations in the GYS1 gene through next-genera...
GYS2 Gene Glycogen storage disease type 0 NGS Genetic Test
The purpose of this test is to definitively diagnose Glycogen Storage Disease Type 0 by identifying...
GYG1 Gene Glycogen storage disease type 15 NGS Genetic Test
To identify mutations in the GYG1 gene for confirming Glycogen Storage Disease Type 15, guiding clin...
GSTT1 Gene Glutathione S-transferase theta-1 defficiency NGS Genetic Test
The purpose of this test is to determine the GSTT1 genotype of an individual to assess their detoxif...
PGM1 Gene Glycogen storage disease type 14 NGS Genetic Test
To diagnose Glycogen Storage Disease Type 14 (GSD14) by detecting mutations in the PGM1 gene using n...
GBE1 Gene Glycogen storage disease type 4 NGS Genetic Test
To identify mutations in the GBE1 gene associated with Glycogen Storage Disease Type 4 for accurate...
G6PC Gene Glycogen storage disease type 1A NGS Genetic Test
To identify pathogenic mutations in the G6PC gene for the definitive diagnosis of Glycogen Storage D...
AGL Gene Glycogen storage disease type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the AGL gene using NGS technology for the diagnos...
PHKA2 Gene Glycogen storage disease type 9A NGS Genetic Test
The purpose of this test is to detect mutations in the PHKA2 gene to diagnose Glycogen Storage Disea...
PHKB Gene Glycogen storage disease type 9B NGS Genetic Test
The purpose of this test is to diagnose Glycogen Storage Disease Type 9B by detecting mutations in t...
ENO3 Gene Glycogen storage disease type 13 NGS Genetic Test
The purpose of the ENO3 Gene Glycogen Storage Disease Type 13 NGS Genetic Test is to identify pathog...
GAA Gene Glycogen storage disease type 2 NGS Genetic Test
The purpose of the GAA Gene NGS Genetic Test is to provide a definitive molecular diagnosis of Glyco...
PYGM Gene Glycogen storage disease type 5 NGS Genetic Test
The purpose of the PYGM Gene NGS Genetic Test is to accurately diagnose Glycogen storage disease typ...
PYGL Gene Glycogen storage disease type 6B NGS Genetic Test
To diagnose Glycogen Storage Disease Type 6B caused by mutations in the PYGL gene, enabling early in...
MPI Gene Glycosylation disorder type 1B NGS Genetic Test
The purpose of the MPI Gene Glycosylation Disorder Type 1B NGS Genetic Test is to diagnose CDG-IB by...
PHKG2 Gene Glycogen storage disease type 9C NGS Genetic Test
To identify pathogenic mutations in the PHKG2 gene for the diagnosis of Glycogen Storage Disease Typ...
PMM2 Gene Glycosylation disorder type 1A NGS Genetic Test
To diagnose PMM2 Gene Glycosylation Disorder Type 1A through genetic analysis, aiding in clinical ma...
PFKM Gene Glycogen storage disease type 7 NGS Genetic Test
The primary purpose of the PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic Test is to identify...
MPDU1 Gene Glycosylation disorder type 1F NGS Genetic Test
The purpose of the MPDU1 Gene Glycosylation Disorder Type 1F NGS Genetic Test is to identify mutatio...
ALG1 Gene Glycosylation disorder type 1K NGS Genetic Test
To diagnose ALG1 gene glycosylation disorder type 1K through genetic analysis using NGS technology.
DOLK Gene Glycosylation disorder type 1M NGS Genetic Test
To identify mutations in the DOLK gene that cause Glycosylation Disorder Type 1M, aiding in diagnosi...
DPM2 Gene Glycosylation disorder type 1U NGS Genetic Test
The purpose of this test is to diagnose DPM2 Gene Glycosylation Disorder Type 1U through genetic ana...
RFT1 Gene Glycosylation disorder type 1N NGS Genetic Test
To diagnose RFT1 Gene Glycosylation Disorder Type 1N by detecting pathogenic mutations in the RFT1 g...
ALG2 Gene Glycosylation disorder type 1I NGS Genetic Test
The primary purpose of the ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic Test is to provide a...
ALG9 Gene Glycosylation disorder type 1L NGS Genetic Test
To diagnose ALG9 Gene Glycosylation Disorder Type 1L by identifying pathogenic mutations in the ALG9...
MOGS Gene Glycosylation disorder type 2B NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the MOGS gene to diagnose Glycosylation...
ALG13 Gene Glycosylation disorder type 1S NGS Genetic Test
The purpose of the ALG13 gene glycosylation disorder type 1S NGS genetic test is to detect pathogeni...
SLC35A2 Gene Glycosylation disorder type 2M NGS Genetic Test
To identify mutations in the SLC35A2 gene for diagnosis of Glycosylation Disorder Type 2M, guiding t...
MGAT2 Gene Glycosylation disorder type 2A NGS Genetic Test
The purpose of the MGAT2 Gene Glycosylation Disorder Type 2A NGS Genetic Test is to identify pathoge...
COG6 Gene Glycosylation disorder type 3 NGS Genetic Test
To diagnose mutations in the COG6 gene associated with Glycosylation Disorder Type 3, enabling confi...
COG5 Gene Glycosylation disorder type 2I NGS Genetic Test
The purpose of this test is to diagnose COG5 Gene Glycosylation Disorder Type 2I by identifying muta...
TMEM165 Gene Glycosylation disorder type 2K NGS Genetic Test
The purpose of the TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic Test is to diagnose this...
B4GALT1 Gene Glycosylation disorder type 2D NGS Genetic Test
The purpose of the B4GALT1 Gene Glycosylation Disorder Type 2D NGS Genetic Test is to identify patho...
COG4 Gene Glycosylation disorder type 2J NGS Genetic Test
The purpose of this test is to detect mutations in the COG4 gene associated with Glycosylation Disor...
HEXB Gene GM2-gangliosidosis type 2 NGS Genetic Test
To identify pathogenic variants in the HEXB gene for diagnosis of GM2-gangliosidosis type 2, guide c...
GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic Test
The purpose of the GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic Test is to identify mutations in...
SSR4 Gene Glycosylation disorder x-linked NGS Genetic Test
The purpose of the SSR4 Gene Glycosylation Disorder X-Linked NGS Genetic Test is to accurately detec...
GLB1 Gene GM1-gangliosidosis type 2 NGS Genetic Test
The purpose of this test is to diagnose GM1-gangliosidosis type 2 by sequencing the GLB1 gene using...
HPD Gene Hawkinsinuria NGS Genetic Test
To identify mutations in the HPD gene associated with Hawkinsinuria for diagnosis, carrier screening...
SLC6A19 Gene Hartnup disorder NGS Genetic Test
The purpose of this test is to identify mutations in the SLC6A19 gene that cause Hartnup Disorder, e...
ABCA1 Gene HDL deficiency, type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the ABCA1 gene...
TFR2 Gene Hemochromatosis type 3 NGS Genetic Test
The purpose of the TFR2 Gene Hemochromatosis Type 3 NGS Genetic Test is to detect mutations in the T...
HJV Gene Hemochromatosis type 2A NGS Genetic Test
To identify mutations in the HJV gene that cause Hemochromatosis Type 2A, aiding in diagnosis, risk...
GAMT Gene Guanidinoacetate methyltransferase deficiency NGS Genetic Test
The purpose of the GAMT Gene Guanidinoacetate Methyltransferase Deficiency NGS Genetic Test is to id...
DDOST Gene Glycosylation disorder type IR NGS Genetic Test
The purpose of the DDOST Gene Glycosylation Disorder Type IR NGS Genetic Test is to identify pathoge...
CETP Gene High density lipoprotein cholesterol level QTL 10 NGS Genetic Test
To identify genetic variations in the CETP gene and HDL Cholesterol Level QTL 10 region that may aff...
IDUA Gene Hurler syndrome NGS Genetic Test
The purpose of the IDUA Gene NGS Genetic Test is to identify mutations in the IDUA gene associated w...
IDUA Gene Hurler-Scheie syndrome NGS Genetic Test
To identify pathogenic mutations in the IDUA gene for confirmatory diagnosis of Hurler-Scheie syndro...
APOA2 Gene Hypercholesterolemia, familial, modifier of NGS Genetic Test
To diagnose familial hypercholesterolemia by detecting pathogenic mutations in the APOA2 gene, enabl...
G6PC2 Gene Hyperinsulinaemia, association with, G6PC2 related NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the G6PC2 gene...
LDLR Gene Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant NGS Genetic Test
To identify mutations in the LDLR gene responsible for autosomal dominant hypercholesterolemia, aidi...
APOA5 Gene Hyperchylomicronemia type 5 NGS Genetic Test
To identify genetic mutations in the APOA5 gene that cause hyperchylomicronemia type 5, aiding in di...
GCK Gene Hyperinsulinemic hypoglycemia type 3 NGS Genetic Test
The purpose of the GCK Gene HH3 NGS Genetic Test is to identify mutations in the GCK gene responsibl...
GLUD1 Gene Hyperinsulinemic hypoglycemia type 6 NGS Genetic Test
The purpose of the GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic Test is to diagnose H...
KCNJ11 Gene Hyperinsulinemic hypoglycemia type 2 NGS Genetic Test
The purpose of the KCNJ11 Gene Hyperinsulinemic Hypoglycemia Type 2 NGS Genetic Test is to identify...
USF1 Gene Hyperlipidemia, familial combined, susceptibility to NGS Genetic Test
To identify mutations in the USF1 gene and other genes associated with familial combined hyperlipide...
LPL Gene Hyperlipoproteinemia type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the LPL gene responsible for Hyperlipoproteinemia...
SLC16A1 Gene Hyperinsulinemic hypoglycemia type 7 NGS Genetic Test
To identify pathogenic mutations in the SLC16A1 gene that cause Hyperinsulinemic Hypoglycemia Type 7...
AASS Gene Hyperlysinemia type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the AASS gene that cause Hyperlysinemia type 1,...
HOGA1 Gene Hyperoxaluria type 3 NGS Genetic Test
To diagnose Hyperoxaluria Type 3 by identifying mutations in the HOGA1 gene for early intervention a...
GRHPR Gene Hyperoxaluria type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the GRHPR gene to confirm a diagnosis of hypero...
SLC25A15 Gene Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the SLC25A15 gene to confirm a diagnosis of HHH...
ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test
To diagnose hypermethioninemia caused by adenosine kinase deficiency through genetic analysis of the...
SLC30A10 Gene Hypermanganesemia with dystonia, polycythemia and cirrhosis NGS Genetic Test
The purpose of the SLC30A10 Gene NGS Genetic Test is to identify mutations in the SLC30A10 gene that...
QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic Test
The purpose of this test is to diagnose QDPR gene mutations causing BH4-deficient hyperphenylalanine...
SLC26A6 Gene Hyperoxaluria, SLC26A6 related NGS Genetic Test
The purpose of the SLC26A6 Gene Hyperoxaluria NGS Genetic Test is to identify pathogenic or likely p...
CYP11B2 Gene Hypoaldosteronism, congenital, due to CMO II deficiency NGS Genetic Test
To detect mutations in the CYP11B2 gene for diagnosis of congenital hypoaldosteronism due to CMO II...
ALDH4A1 Gene Hyperprolinemia type 2 NGS Genetic Test
The purpose of the ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic Test is to identify mutations in...
SARS2 Gene Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis NGS Genetic Test
The purpose of this test is to diagnose mutations in the SARS2 gene that may cause hyperuricemia, pu...
AGXT Gene Hyperoxaluria type 1 NGS Genetic Test
The primary purpose of the AGXT Gene Hyperoxaluria Type 1 NGS Genetic Test is to confirm a molecular...
TRPM6 Gene Hypomagnesemia type 1 NGS Genetic Test
To diagnose TRPM6 gene hypomagnesemia type 1 by detecting pathogenic mutations in the TRPM6 gene usi...
CLDN16 Gene Hypomagnesemia type 3 NGS Genetic Test
The purpose of the CLDN16 Gene Hypomagnesemia type 3 NGS Genetic Test is to identify mutations in th...
AKT2 Gene Hypoinsulinemic hypoglycemia with hemihypertrophy NGS Genetic Test
The purpose of this test is to detect mutations in the AKT2 gene that cause hypoinsulinemic hypoglyc...
FXYD2 Gene Hypomagnesemia type 2 NGS Genetic Test
The purpose of this test is to accurately diagnose hypomagnesemia type 2 by identifying pathogenic m...
ABCC8 Gene Hypoglycemia of infancy, leucine-sensitive NGS Genetic Test
The purpose of this test is to identify mutations in the ABCC8 gene that cause leucine-sensitive hyp...
EGF Gene Hypomagnesemia type 4 NGS Genetic Test
The purpose of this test is to diagnose EGF Gene Hypomagnesemia Type 4 by detecting mutations in the...
CYP11B2 Gene Hypoaldosteronism congenital due to CMO I deficiency NGS Genetic Test
To identify genetic mutations in the CYP11B2 gene responsible for congenital hypoaldosteronism due t...
CNNM2 Gene Hypomagnesemia type 6 NGS Genetic Test
The purpose of the CNNM2 Gene Hypomagnesemia Type 6 NGS Genetic Test is to confirm a diagnosis of hy...
CLDN19 Gene Hypomagnesemia type 5 NGS Genetic Test
To identify mutations in the CLDN19 gene associated with Hypomagnesemia type 5 for accurate diagnosi...
ALPL Gene Hypophosphatasia, adult NGS Genetic Test
The purpose of this test is to identify mutations in the ALPL gene to confirm a diagnosis of hypopho...
SLC2A9 Gene Hypouricemia, renal type 2 NGS Genetic Test
To diagnose SLC2A9 gene mutations causing renal hypouricemia type 2, confirm clinical diagnosis, gui...
SLC22A12 Gene Hypouricemia, renal type 1 NGS Genetic Test
The purpose of the SLC22A12 Gene Hypouricemia, Renal Type 1 NGS Genetic Test is to identify mutation...
LCT Gene Lactase deficiency, congenital NGS Genetic Test
The purpose of this test is to diagnose congenital lactase deficiency by detecting pathogenic mutati...
ACADL Gene LCAD deficiency NGS Genetic Test
To detect mutations in the ACADL gene that cause LCAD deficiency, enabling early diagnosis, manageme...
LDHB Gene Lactate dehydrogenase-B deficiency NGS Genetic Test
To detect mutations in the LDHB gene for accurate diagnosis of Lactate dehydrogenase-B deficiency, g...
LCAT Gene LCAT DEFICIENCY NGS Genetic Test
To detect mutations in the LCAT gene for accurate diagnosis and management of LCAT deficiency.
PDHX Gene Lacticacidemia due to PDX1 deficiency NGS Genetic Test
To diagnose lacticacidemia caused by PDHX gene deficiency through genetic analysis, enabling accurat...
HADHA Gene Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic Test
To identify mutations in the HADHA gene associated with Long-chain 3-hydroxyacyl-CoA dehydrogenase d...
CAVIN1 Gene Lipodystrophy generalized type 4 NGS Genetic Test
To identify mutations in the CAVIN1 gene for diagnosis of Lipodystrophy Generalized Type 4, aiding i...
BSCL2 Gene Lipodystrophy generalized type 2 NGS Genetic Test
The purpose of the BSCL2 Gene Lipodystrophy Generalized Type 2 NGS Genetic Test is to confirm a diag...
PPARG Gene Lipodystrophy, familial partial, type 3 NGS Genetic Test
The purpose of the PPARG Gene Lipodystrophy, Familial Partial, Type 3 NGS Genetic Test is to identif...
MANBAL Gene Mannosidosis, beta A, lysosomal-like NGS Genetic Test
The purpose of the MANBAL gene mannosidosis NGS genetic test is to detect mutations in the MANBAL ge...
MANBA Gene Mannosidosis-beta NGS Genetic Test
To diagnose Mannosidosis-beta by identifying mutations in the MANBA gene using NGS technology for ac...
ABHD1 Gene Lung alpha-beta hydrolase deficiency type 1 NGS Genetic Test
The purpose of the ABHD1 Gene NGS Genetic Test is to confirm the diagnosis of lung alpha-beta hydrol...
MAN2B1 Gene Mannosidosis-alpha NGS Genetic Test
To diagnose alpha-mannosidosis by identifying mutations in the MAN2B1 gene using NGS technology. Thi...
DBT Gene Maple syrup urine disease type 2 NGS Genetic Test
The purpose of the DBT Gene NGS Genetic Test is to identify pathogenic mutations in the DBT gene, co...
LPA Gene LPA deficiency, congenital NGS Genetic Test
To detect pathogenic or likely pathogenic mutations in the LPA gene using Next Generation Sequencing...
DLD Gene Maple syrup urine disease type 3 NGS Genetic Test
To diagnose Maple Syrup Urine Disease Type 3 by detecting mutations in the DLD gene and to identify...
ACP2 Gene Lysosomal acid phosphatase deficiency NGS Genetic Test
The purpose of the ACP2 Gene Lysosomal Acid Phosphatase Deficiency NGS Genetic Test is to detect mut...
PAX4 Gene Maturity-onset diabetes of the young type 9 NGS Genetic Test
To diagnose Maturity-onset diabetes of the young type 9 (MODY9) by detecting mutations in the PAX4 g...
PPM1K Gene Maple syrup urine disease, mild variant NGS Genetic Test
The primary purpose of the PPM1K Gene Maple Syrup Urine Disease Mild Variant NGS Genetic Test is to...
MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic Test
To identify mutations in the MT-TL1 gene for diagnosis of MELAS syndrome and related mitochondrial d...
HNF1B Gene Maturity-onset diabetes of the young type 5 NGS Genetic Test
The purpose of the HNF1B Gene MODY Type 5 NGS Genetic Test is to detect pathogenic or likely pathoge...
ALDH6A1 Gene Methylmalonate semialdehyde dehydrogenase deficiency NGS Genetic Test
The purpose of this test is to diagnose ALDH6A1 gene methylmalonate semialdehyde dehydrogenase defic...
MTR Gene Methylcobalamin deficiency CblG type NGS Genetic Test
To identify mutations in the MTR gene associated with methylcobalamin deficiency CblG type for accur...
MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test
The purpose of the MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test is to confirm a dia...
VEGFA Gene Microvascular complications of diabetes type 1 NGS Genetic Test
To detect mutations in the VEGFA gene associated with an increased risk of microvascular complicatio...
MMAA Gene Methylmalonic aciduria CblA type NGS Genetic Test
The purpose of this test is to identify mutations in the MMAA gene responsible for CblA type methylm...
CD320 Gene Methylmalonic aciduria CblR type NGS Genetic Test
To diagnose Methylmalonic aciduria CblR type by detecting mutations in the CD320 gene using Next-Gen...
MVK Gene Mevalonic aciduria NGS Genetic Test
The purpose of this test is to diagnose mevalonic aciduria by identifying mutations in the MVK gene,...
MMAB Gene Methylmalonic aciduria CblB type NGS Genetic Test
To diagnose methylmalonic aciduria CblB type by identifying pathogenic mutations in the MMAB gene us...
MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic Test
The purpose of this test is to diagnose Methylmalonyl-CoA epimerase deficiency by identifying mutati...
MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NGS Genetic Test
The purpose of the MMUT Gene NGS Genetic Test is to identify mutations in the MMUT gene responsible...
ABCD4 Gene Methylmalonic aciduria CblJ type NGS Genetic Test
The purpose of the ABCD4 Gene Methylmalonic Aciduria CblJ Type NGS Genetic Test is to confirm a mole...
UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test
The purpose of this test is to identify mutations in the UQCC2 gene for definitive diagnosis of Mito...
SAMD9 Gene Mirage syndrome NGS Genetic Test
To identify mutations in the SAMD9 gene associated with Mirage syndrome for diagnostic confirmation,...
MOCS2 Gene Molybdenum cofactor deficiency type B NGS Genetic Test
The purpose of this test is to diagnose Molybdenum Cofactor Deficiency Type B by detecting mutations...
IDS Gene Mucopolysaccharidosis type 2 NGS Genetic Test
To diagnose Mucopolysaccharidosis type 2 by detecting mutations in the IDS gene using Next-Generatio...
HGSNAT Gene Mucopolysaccharidosis type 3C NGS Genetic Test
To identify mutations in the HGSNAT gene that cause Mucopolysaccharidosis type 3C, aiding in diagnos...
SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic Test
The purpose of the SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency NGS Genetic Test is to iden...
GNS Gene Mucopolysaccharidosis type 3D NGS Genetic Test
To diagnose Mucopolysaccharidosis type 3D by identifying mutations in the GNS gene, enabling early t...
MCOLN1 Gene Mucolipidosis type 4 NGS Genetic Test
To diagnose Mucolipidosis type 4 by identifying mutations in the MCOLN1 gene using next-generation s...
NAGLU Gene Mucopolysaccharidosis type 3B NGS Genetic Test
To identify pathogenic mutations in the NAGLU gene for accurate diagnosis of Mucopolysaccharidosis t...
SGSH Gene Mucopolysaccharidosis type 3A NGS Genetic Test
To confirm diagnosis of Mucopolysaccharidosis type 3A by detecting mutations in the SGSH gene, guide...
IDUA Gene Mucopolysaccharidosis type 1H NGS Genetic Test
To detect mutations in the IDUA gene for accurate diagnosis of Mucopolysaccharidosis type 1H, enabli...
RFX6 Gene Mitchell-Riley syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the RFX6 gene to confirm or rule out a diagnosis...
GALNS Gene Mucopolysaccharidosis type 4A NGS Genetic Test
To diagnose Mucopolysaccharidosis type 4A by detecting mutations in the GALNS gene using NGS technol...
PHKA1 Gene Muscle glycogenosis NGS Genetic Test
To diagnose PHKA1 gene mutations causing muscle glycogenosis by detecting pathogenic variants throug...
GLB1 Gene Mucopolysaccharidosis type 4B NGS Genetic Test
The purpose of this test is to accurately diagnose Mucopolysaccharidosis type 4B by detecting pathog...
HYAL1 Gene Mucopolysaccharidosis type 9 NGS Genetic Test
To identify pathogenic mutations in the HYAL1 gene for the diagnosis of Mucopolysaccharidosis type 9...
ALPL Gene Odontohypophosphatasia NGS Genetic Test
The purpose of the ALPL Gene Odontohypophosphatasia NGS Genetic Test is to identify mutations in the...
NAGS Gene N-acetylglutamate synthase deficiency NGS Genetic Test
To diagnose N-acetylglutamate synthase deficiency by detecting mutations in the NAGS gene using Next...
NPC2 Gene Niemann-Pick disease type C2 NGS Genetic Test
To identify mutations in the NPC2 gene for definitive diagnosis of Niemann-Pick disease type C2, ena...
NEU1 Gene Neuraminidase deficiency NGS Genetic Test
The purpose of this test is to diagnose neuraminidase deficiency by identifying mutations in the NEU...
NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test
To diagnose Niemann-Pick disease type C1 by identifying mutations in the NPC1 gene using next-genera...
OTC Gene Ornithine transcarbamoylase deficiency NGS Genetic Test
To diagnose ornithine transcarbamoylase deficiency (OTCD), identify carriers, and guide treatment an...
UMPS Gene Orotic aciduria NGS Genetic Test
The purpose of the UMPS Gene Orotic Aciduria NGS Genetic Test is to identify mutations in the UMPS g...
GUSB Gene Mucopolysaccharidosis type 7 NGS Genetic Test
The purpose of the GUSB Gene Mucopolysaccharidosis Type VII NGS Genetic Test is to identify pathogen...
ARSB Gene Mucopolysaccharidosis type 6 NGS Genetic Test
The primary purpose of the ARSB Gene Mucopolysaccharidosis Type VI NGS Genetic Test is to identify p...
DCXR Gene Pentosuria NGS Genetic Test
To detect mutations in the DCXR gene for diagnosis of Pentosuria.
PTF1A Gene Pancreatic agenesis type 2 NGS Genetic Test
The purpose of the PTF1A Gene Pancreatic Agenesis Type 2 NGS Genetic Test is to provide a definitive...
PAH Gene Phenylketonuria NGS Genetic Test
To identify mutations in the PAH gene for accurate diagnosis of Phenylketonuria (PKU), enabling earl...
PHGDH Gene Phosphoglycerate dehydrogenase deficiency NGS Genetic Test
To diagnose PHGDH deficiency by detecting mutations in the PHGDH gene using NGS technology, guiding...
PSPH Gene Phosphoserine phosphatase deficiency NGS Genetic Test
The purpose of this test is to accurately diagnose phosphoserine phosphatase deficiency by identifyi...
PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency, mitochondrial NGS Genetic Test
The purpose of this test is to identify mutations in the PCK2 gene using next-generation sequencing...
SLC7A5 Gene Phenylketonuria modifier, SLC7A5 related NGS Genetic Test
To identify mutations in the SLC7A5 gene that may modify the severity of Phenylketonuria (PKU), aidi...
GPR161 Gene Pituitary stalk interruption syndrome, GPR161 related NGS Genetic Test
The purpose of the GPR161 Gene NGS Genetic Test is to identify mutations in the GPR161 gene that may...
GAA Gene Pompe disease NGS Genetic Test
The purpose of this test is to identify mutations in the GAA gene to diagnose Pompe disease, confirm...
PSAT1 Gene Phosphoserine aminotransferase deficiency NGS Genetic Test
The primary purpose of this test is to identify pathogenic mutations in the PSAT1 gene to confirm or...
HMBS Gene Porphyria acute intermittent NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the HMBS gene to confirm the diagnosi...
UROS Gene Porphyria congenital erythropoietic NGS Genetic Test
To detect pathogenic mutations in the UROS gene for diagnosing Congenital Erythropoietic Porphyria,...
PEPD Gene Prolidase deficiency NGS Genetic Test
The purpose of this test is to diagnose PEPD Gene Prolidase Deficiency by detecting mutations in the...
PSAP Gene Prosaposin deficiency NGS Genetic Test
To diagnose PSAP gene prosaposin deficiency for early intervention, genetic counseling, and personal...
PCCA Gene Propionic acidemia NGS Genetic Test
This test is designed to identify genetic mutations in the PCCA gene, which is associated with propi...
PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency, cytosolic NGS Genetic Test
The PCK1 Gene NGS Genetic Test is performed to identify pathogenic mutations in the PCK1 gene that c...
PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency NGS Genetic Test
To diagnose PNPO gene deficiency through genetic analysis, confirm clinical suspicion based on sympt...
PCCB Gene Propionic acidemia NGS Genetic Test
To detect mutations in the PCCB gene that cause propionic acidemia, aiding in accurate diagnosis, ca...
PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the PRPS1 gene t...
ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic Test
The purpose of the ALAS2 Gene Protoporphyria NGS Genetic Test is to identify pathogenic or likely pa...
PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic Test
To identify mutations in the PDHA1 gene causing Pyruvate dehydrogenase E1-alpha deficiency for accur...
PDHB Gene Pyruvate dehydrogenase E1-beta deficiency NGS Genetic Test
To identify pathogenic mutations in the PDHB gene for accurate diagnosis of pyruvate dehydrogenase E...
DLAT Gene Pyruvate dehydrogenase E2 deficiency NGS Genetic Test
To identify mutations in the DLAT gene associated with Pyruvate dehydrogenase E2 deficiency, aiding...
LIAS Gene Pyruvate dehydrogenase lipoic acid synthetase deficiency NGS Genetic Test
The purpose of this test is to identify mutations in the LIAS gene that cause pyruvate dehydrogenase...
PC Gene Pyruvate carboxylase deficiency NGS Genetic Test
To diagnose Pyruvate Carboxylase Deficiency by identifying mutations in the PC gene using NGS techno...
PEX7 Gene Refsum disease NGS Genetic Test
The purpose of the PEX7 Gene Refsum Disease NGS Genetic Test is to accurately diagnose Refsum diseas...
PHYH Gene Refsum disease NGS Genetic Test
To diagnose Refsum disease by detecting pathogenic mutations in the PHYH gene through NGS, enabling...
PDP1 Gene Pyruvate dehydrogenase phosphatase deficiency NGS Genetic Test
The purpose of this test is to identify mutations in the PDP1 gene that cause pyruvate dehydrogenase...
RPIA Gene Ribose 5-phosphate isomerase deficiency NGS Genetic Test
To diagnose RPIA gene mutations causing ribose 5-phosphate isomerase deficiency through Next-Generat...
SLC52A1 Gene Riboflavin deficiency NGS Genetic Test
To identify mutations in the SLC52A1 gene that cause riboflavin transporter deficiency, aiding in di...
PKLR Gene Pyruvate kinase deficiency with hemolytic anemia NGS Genetic Test
The purpose of the PKLR Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutatio...
CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic Test
The purpose of this test is to detect mutations in the CYP2R1 gene that cause vitamin D 25-hydroxyla...
HEXB Gene Sandhoff disease NGS Genetic Test
To diagnose Sandhoff disease by detecting mutations in the HEXB gene using Next Generation Sequencin...
IDUA Gene Scheie syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the IDUA gene associated with Scheie...
NAGA Gene Schindler disease NGS Genetic Test
To diagnose Schindler disease by identifying pathogenic mutations in the NAGA gene using next-genera...
SARDH Gene Sarcosinemia NGS Genetic Test
To detect pathogenic mutations in the SARDH gene responsible for sarcosinemia, enabling accurate dia...
OXCT1 Gene Succinyl CoA:3-oxoacid CoA transferase deficiency NGS Genetic Test
The purpose of this test is to diagnose Succinyl CoA:3-oxoacid CoA transferase deficiency by identif...
SI Gene Sucrase-isomaltase deficiency NGS Genetic Test
To detect mutations in the SI gene responsible for sucrase-isomaltase deficiency, aiding in accurate...
SFTPD Gene Surfactant metabolism dysfunction NGS Genetic Test
To detect genetic mutations in the SFTPD gene associated with surfactant metabolism dysfunction, aid...
SFTPB Gene Surfactant metabolism dysfunction type 1 NGS Genetic Test
To diagnose Surfactant Metabolism Dysfunction Type 1 by detecting mutations in the SFTPB gene using...
SUOX Gene Sulfite oxidase deficiency NGS Genetic Test
To detect mutations in the SUOX gene for the diagnosis, management, and genetic counseling of sulfit...
CSF2RA Gene Surfactant metabolism dysfunction type 4 NGS Genetic Test
To detect pathogenic mutations in the CSF2RA gene using Next-Generation Sequencing for the diagnosis...
ABCA3 Gene Surfactant metabolism dysfunction type 3 NGS Genetic Test
To identify genetic mutations in the ABCA3 gene associated with surfactant metabolism dysfunction ty...
AASS Gene Saccharopinuria NGS Genetic Test
The purpose of the AASS Gene Saccharopinuria NGS Genetic Test is to detect pathogenic mutations in t...
HEXA Gene Tay-Sachs disease NGS Genetic Test
The purpose of the HEXA Gene Tay-Sachs Disease NGS Genetic Test is to diagnose Tay-Sachs disease by...
CSF2RB Gene Surfactant metabolism dysfunction type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the CSF2RB gene to diagnose surfactant metabolism...
ABCA1 Gene Tangier disease NGS Genetic Test
To detect mutations in the ABCA1 gene that cause Tangier disease, characterized by very low levels o...
TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic Test
The purpose of the TPK1 Gene THMD5 NGS Genetic Test is to diagnose Thiamine Metabolism Dysfunction S...
SFTPC Gene Surfactant metabolism dysfunction type 2 NGS Genetic Test
To identify mutations in the SFTPC gene that cause surfactant metabolism dysfunction type 2, aiding...
TJP1 Gene TJP1 deficiency NGS Genetic Test
To identify mutations in the TJP1 gene for accurate diagnosis of TJP1 deficiency, enabling early int...
FMO3 Gene Trimethylaminuria NGS Genetic Test
To diagnose Trimethylaminuria by detecting mutations in the FMO3 gene using Next Generation Sequenci...
HADHA Gene Trifunctional protein deficiency NGS Genetic Test
The purpose of this test is to diagnose HADHA gene trifunctional protein deficiency by identifying m...
FAH Gene Tyrosinemia type 1 NGS Genetic Test
The purpose of the FAH Gene Tyrosinemia Type 1 NGS Genetic Test is to detect mutations in the FAH ge...
HPD Gene Tyrosinemia type 3 NGS Genetic Test
To identify pathogenic mutations in the HPD gene for the diagnosis of Tyrosinemia Type 3, enabling e...
TAT Gene Tyrosinemia type 2 NGS Genetic Test
To detect mutations in the TAT gene for diagnosing Tyrosinemia Type 2, enabling early treatment and...
GSTZ1 Gene Tyrosinemia type 1B NGS Genetic Test
To identify mutations in the GSTZ1 gene for definitive diagnosis of Tyrosinemia Type 1B, guiding tre...
ECM1 Gene Urbach-Wiethe disease NGS Genetic Test
The purpose of the ECM1 Gene Urbach-Wiethe Disease NGS Genetic Test is to accurately diagnose Urbach...
G6PC Gene Von-Gierke disease NGS Genetic Test
To diagnose Von-Gierke Disease definitively by identifying mutations in the G6PC gene using NGS tech...
ATP7B Gene Wilson disease NGS Genetic Test
To diagnose Wilson disease by identifying pathogenic mutations in the ATP7B gene, confirm the geneti...
GALNT3 Gene Tumoral calcinosis, hyperphosphatemic, familial, type 1 NGS Genetic Test
The purpose of the GALNT3 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutat...
XDH Gene Xanthinuria type 1 NGS Genetic Test
To diagnose Xanthinuria type 1 by detecting mutations in the XDH gene using NGS technology, aiding i...
LIPA Gene Wolman disease NGS Genetic Test
To diagnose Wolman disease by detecting mutations in the LIPA gene using Next Generation Sequencing...
MOCOS Gene Xanthinuria type 2 NGS Genetic Test
To detect mutations in the MOCOS gene for the diagnosis of Xanthinuria type 2, aiding in clinical ma...
MT-TF Gene MELAS syndrome NGS Genetic Test
To diagnose MELAS syndrome by detecting pathogenic mutations in the MT-TF gene using Next Generation...
MT-TC Gene MELAS syndrome NGS Genetic Test
The purpose of the MT-TC Gene MELAS Syndrome NGS Genetic Test is to detect mutations in the MT-TC ge...
MT-TS1 Gene MERRF/MELAS overlap syndrome, MT-TS1 related NGS Genetic Test
To diagnose MT-TS1 gene mutations causing MERRF/MELAS overlap syndrome, confirm clinical suspicion,...
POMC Gene Obesity with adrenal insufficiency and red hair NGS Genetic Test
To detect mutations in the POMC gene that cause obesity, adrenal insufficiency, and red hair, enabli...
SLC6A14 Gene Obesity, susceptibility to, SLC6A14 related NGS Genetic Test
To identify genetic variations in the SLC6A14 gene that may contribute to obesity susceptibility, ai...
HADHB Gene Trifunctional protein deficiency NGS Genetic Test
To diagnose HADHB gene mutations causing trifunctional protein deficiency, enabling early interventi...
DHCR24 Gene Desmosterolosis NGS Genetic Test
To identify mutations in the DHCR24 gene for definitive diagnosis of Desmosterolosis, guiding clinic...
UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test
The purpose of the UQCC2 Gene Mitochondrial Complex III Deficiency NGS Genetic Test is to detect mut...
Glycogen Storage Disorder Gene Panel
To diagnose Glycogen Storage Disorder through genetic testing, identify specific mutations, and guid...
Hemochromatosis HFE Full Gene Sequence Analysis
The purpose of the Hemochromatosis HFE Full Gene Sequence Analysis is to detect mutations in the HFE...
Metabolic Disorder Gene Panel
The purpose of the Metabolic Disorder Gene Panel test is to detect genetic mutations responsible for...
12S rRNA Sequencing
The purpose of 12S rRNA sequencing is to detect mutations in the 12S ribosomal RNA gene of the mitoc...
Amino Acids Quantitative Blood: 10 Amino Acids Test
This test is used to assess amino acid balance, detect nutritional deficiencies, screen for inherite...
IMD Panel Extended Test
The panel evaluates amino acids, organic acids in urine, acylcarnitine profile, and biotinidase acti...
Sphingolipidosis Panel 2 Test
The purpose of the Sphingolipidosis Panel 2 Test is to detect enzyme deficiencies that cause Gaucher...
Wilson Disease Panel Test
The purpose of the Wilson Disease Panel Test is to evaluate copper metabolism and detect liver invol...
CentoIEM NGS Genetic Test
The purpose of this test is to identify genetic mutations responsible for inherited metabolic disord...
NGSMito Comprehensive NGS Genetic Test
The primary purpose of NGSMito Comprehensive NGS Genetic Test is to identify disease-causing variant...
MT-CO1 Gene Cytochrome c oxidase 1 deficiency NGS Genetic Test
The purpose of this test is to identify clinically significant variants in the MT-CO1 gene that are...
MT-CO3 Gene Cytochrome c oxidase 3 deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic sequence variants in the MT-CO3 gene that cause c...
MT-TL2 Gene Encephalomyopathy, mitochondrial, MT-TL2 related NGS Genetic Test
To identify pathogenic mutations in the MT-TL2 gene using NGS technology, aiding in the diagnosis of...
MT-TR Gene Encephalomyopathy, mitochondrial, MT-TR related NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the MT-TR gene and the c...
VDAC1 Gene Encephalopathy mitochondrial NGS Genetic Test
The primary purpose of this NGS genetic test is to detect pathogenic variants in the VDAC1 gene that...
MT-TW Gene Encephalopathy mitochondrial, MT-TW related NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the MT-TW gene, confir...
GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic Test
The purpose of this NGS-based genetic test is to detect pathogenic or likely pathogenic variants in...
NUBPL Gene Leigh syndrome NGS Genetic Test
This test is used to detect mutations in the NUBPL gene to confirm a diagnosis of Leigh syndrome or...
SDHA Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS-based test is to detect clinically significant variants in the SDHA gene ass...
SURF1 Gene Leigh syndrome due to COX deficiency NGS Genetic Test
To identify pathogenic variants in the SURF1 gene, enabling confirmation of Leigh syndrome due to CO...
NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the NDUFA12 gene...
MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MT-TL1 gene in individuals with c...
MT-TP Gene MERRF syndrome, MT-TP related NGS Genetic Test
To confirm or exclude MERRF syndrome by identifying pathogenic variants in the MT-TP gene using next...
MT-ND1 Gene Mitochondrial complex I deficiency NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the MT-ND1 gene using advance...
MT-ND4L Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the MT-ND4L gene associated with mitoc...
MT-ND5 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MT-ND5 gene that cause mitochondr...
MT-ND4 Gene Mitochondrial complex I deficiency NGS Genetic Test
This test aims to detect pathogenic variants in the MT-ND4 gene using NGS. The results assist in con...
NDUFAF3 Gene Mitochondrial complex I deficiency NGS Genetic Test
To identify pathogenic variants in the NDUFAF3 gene associated with Mitochondrial Complex I deficien...
NDUFB3 Gene Mitochondrial complex I deficiency NGS Genetic Test
This test is used to diagnose mitochondrial complex I deficiency caused by mutations in the NDUFB3 g...
NDUFAF4 Gene Mitochondrial complex I deficiency NGS Genetic Test
To confirm suspected NDUFAF4-related mitochondrial complex I deficiency by detection of pathogenic v...
NDUFA1 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing genetic variants in the NDUFA1 gen...
SDHAF1 Gene Mitochondrial complex II deficiency NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SDHAF1 gene that may ca...
NDUFS2 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the NDUFS2 gene associated...
UQCRC2 Gene Mitochondrial complex III deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the UQCRC2 gene associated with mitoch...
MT-TN Gene Mitochondrial complex I deficiency, MT-TN related NGS Genetic Test
This NGS test is used to detect pathogenic or likely pathogenic variants in the MT-TN gene in indivi...
NDUFAF5 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the NDUFAF5 gene, confirm a clinical...
MT-ATP6 Gene Mitochondrial complex V (ATP synthase) deficiency NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the MT-ATP6 gene that cause m...
ATP5F1A Gene Mitochondrial complex V deficiency, nuclear type 4 NGS Genetic Test
The purpose of this NGS-based test is to identify a disease-causing variant in the ATP5F1A gene in p...
SUCLA2 Gene Mitochondrial DNA depletion syndrome NGS Genetic Test
To detect pathogenic variants in the SUCLA2 gene associated with Mitochondrial DNA Depletion Syndrom...
TMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 NGS Genetic Test
To detect pathogenic variants in the TMEM70 gene associated with nuclear type 2 mitochondrial comple...
ATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 NGS Genetic Test
To identify clinically significant sequence variants in the ATP5F1E gene using NGS technology in ord...
SDHA Gene Mitochondrial respiratory chain complex II deficiency NGS Genetic Test
To identify pathogenic variants in the SDHA gene associated with mitochondrial respiratory chain com...
MT-CYB Gene Mitochondrial encephalomyopathy NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the MT-CYB gene that may ex...
NFU1 Gene Multiple mitochondrial dysfunctions syndrome type 1 NGS Genetic Test
The purpose of the NFU1 gene MMDS1 NGS genetic test is to detect pathogenic or likely pathogenic var...
ISCA2 Gene Multiple mitochondrial dysfunctions syndrome type 4 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the ISCA2 gene that cause...
GAA Gene Pompe disease NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the GAA gene, which is responsible for...
CYP17A1 Gene 17-hydroxylation activity deficiency NGS Genetic Test
To identify mutations in the CYP17A1 gene that cause 17-hydroxylation activity deficiency, aiding in...
DECR1 Gene 2,4-dienoyl-CoA reductase 1 NGS Genetic Test
The purpose of the DECR1 Gene 2,4-dienoyl-CoA reductase 1 NGS Genetic Test is to identify mutations...
NADK2 Gene 2,4-dienoyl-CoA reductase deficiency NGS Genetic Test
To diagnose NADK2 gene mutations causing 2,4-dienoyl-CoA reductase deficiency for accurate clinical...
ACADSB Gene 2-methylbutyrylglycinuria NGS Genetic Test
The purpose of this test is to diagnose 2-methylbutyrylglycinuria by identifying mutations in the AC...
DHTKD1 Gene 2-aminoadipic 2-oxoadipic aciduria NGS Genetic Test
The purpose of this test is to identify mutations in the DHTKD1 gene that cause 2-aminoadipic 2-oxoa...
HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic Test
To diagnose HMGCL gene mutations causing 3-hydroxy-3-methylglutaryl-CoA lyase deficiency for early i...
HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic Test
To identify mutations in the HIBCH gene for diagnosis of 3-hydroxyisobutryl-CoA hydrolase deficiency...
HADH Gene 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic Test
The purpose of the HADH Gene NGS Genetic Test is to diagnose 3-hydroxyacyl-CoA dehydrogenase deficie...
HMGCS2 Gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency NGS Genetic Test
To diagnose 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency through genetic analysis, enabling...
MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency NGS Genetic Test
To diagnose 3-methylcrotonyl-CoA carboxylase 1 deficiency by detecting mutations in the MCCC1 gene u...
AUH Gene 3-methylglutaconic aciduria type 1 NGS Genetic Test
To identify mutations in the AUH gene for accurate diagnosis of 3-methylglutaconic aciduria type 1,...
OPA3 Gene 3-methylglutaconic aciduria type 3 NGS Genetic Test
To diagnose 3-methylglutaconic aciduria type 3 by detecting mutations in the OPA3 gene.
CLPB Gene 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia NGS Genetic Test
To identify mutations in the CLPB gene for accurate diagnosis of 3-methylglutaconic aciduria type 7...
DNAJC19 Gene 3-methylglutaconic aciduria type 5 NGS Genetic Test
To identify mutations in the DNAJC19 gene for definitive diagnosis of 3-methylglutaconic aciduria ty...
MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic Test
The purpose of the MCCC2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutati...
APOA2 Gene Apolipoprotein A-II deficiency NGS Genetic Test
To identify mutations in the APOA2 gene that cause Apolipoprotein A-II deficiency, aiding in the dia...
AMPD3 Gene AMP deaminase deficiency, erythrocytic NGS Genetic Test
To diagnose AMPD3 gene mutations associated with AMP deaminase deficiency in erythrocytes, aiding in...
APOC2 Gene Apolipoprotein C-II deficiency NGS Genetic Test
To diagnose Apolipoprotein C-II deficiency by identifying mutations in the APOC2 gene using NGS tech...
ARG1 Gene Arginase deficiency NGS Genetic Test
To identify pathogenic mutations in the ARG1 gene associated with arginase deficiency, aiding in dia...
GATM Gene Arginine-glycine amidinotransferase deficiency NGS Genetic Test
To diagnose Arginine-glycine amidinotransferase deficiency through genetic testing, enabling early i...
ASNS Gene Asparaginesynthetase deficiency NGS Genetic Test
The purpose of the ASNS Gene Asparagine Synthetase Deficiency NGS Genetic Test is to identify pathog...
DDC Gene Aromatic L-amino acid decarboxylase deficiency (AADC) NGS Genetic Test
To identify mutations in the DDC gene for diagnosing Aromatic L-amino acid decarboxylase deficiency...
ASL Gene Argininosuccinic aciduria NGS Genetic Test
To identify mutations in the ASL gene for definitive diagnosis of argininosuccinic aciduria, guiding...
HSD11B2 Gene Apparent mineralocorticoid excess NGS Genetic Test
To detect mutations in the HSD11B2 gene for diagnosing Apparent Mineralocorticoid Excess.
ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency NGS Genetic Test
The purpose of this test is to diagnose ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase...
UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test
To diagnose Beta-ureidopropionase deficiency by identifying mutations in the UPB1 gene using Next Ge...
CYP7B1 Gene Bile acid synthesis defect type 3, congenital NGS Genetic Test
The purpose of this test is to diagnose CYP7B1 gene bile acid synthesis defect type 3 by detecting m...
AMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic Test
The purpose of this test is to identify mutations in the AMACR gene for the diagnosis of bile acid s...
BCAT1 Gene Branched-chain aminotransferase 1 deficiency NGS Genetic Test
To diagnose BCAT1 gene mutations causing branched-chain aminotransferase 1 deficiency, enabling earl...
HSD3B7 Gene Bile acid synthesis defect type 1, congenital NGS Genetic Test
The purpose of this test is to detect mutations in the HSD3B7 gene responsible for bile acid synthes...
COMT Gene Catechol-o-methyltransferase deficiency NGS Genetic Test
To diagnose Catechol-o-methyltransferase deficiency by detecting mutations in the COMT gene using NG...
COQ6 Gene Coenzyme Q10 deficiency type 6 NGS Genetic Test
The purpose of the COQ6 Gene Coenzyme Q10 Deficiency Type 6 NGS Genetic Test is to diagnose Coenzyme...
COQ4 Gene Coenzyme Q10 deficiency type 7 NGS Genetic Test
To diagnose COQ4 gene mutations leading to Coenzyme Q10 deficiency type 7, enabling early interventi...
MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 NGS Genetic Test
To detect mutations in the MRPL44 gene for the diagnosis of Combined Oxidative Phosphorylation Defic...
ACSF3 Gene Combined malonic and methylmalonic aciduria NGS Genetic Test
The purpose of this test is to identify mutations in the ACSF3 gene to diagnose Combined Malonic and...
TARS2 Gene Combined oxidative phosphorylation deficiency type 21 NGS Genetic Test
To diagnose TARS2 gene mutations causing Combined Oxidative Phosphorylation Deficiency Type 21, enab...
SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria NGS Genetic Test
To detect pathogenic mutations in the SLC25A1 gene for accurate diagnosis of combined D-2- and L-2-h...
TRMT5 Gene Combined oxidative phosphorylation deficiency type 26 NGS Genetic Test
To diagnose Combined oxidative phosphorylation deficiency type 26 (COXPD26) by detecting pathogenic...
CTH Gene Cystathioninuria NGS Genetic Test
To detect mutations in the CTH gene for the diagnosis of cystathioninuria, a metabolic disorder.
CFTR Gene Cystic fibrosis NGS Genetic Test
To identify mutations in the CFTR gene for diagnosis of cystic fibrosis, assess carrier status, guid...
AVPR2 Gene Diabetes insipidus, nephrogenic, X-linked NGS Genetic Test
To identify mutations in the AVPR2 gene causing nephrogenic diabetes insipidus for accurate diagnosi...
ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 NGS Genetic Test
To diagnose mutations in the ELAC2 gene associated with combined oxidative phosphorylation deficienc...
IDH2 Gene D-2-hydroxyglutaric aciduria type 2 NGS Genetic Test
To diagnose D-2-hydroxyglutaric aciduria type 2 by detecting mutations in the IDH2 gene using Next G...
AVP Gene Diabetes insipidus, neurohypophyseal NGS Genetic Test
The purpose of this test is to detect mutations in the AVP gene that cause neurohypophyseal diabetes...
ABCC8 Gene Diabetes mellitus, noninsulin-dependent NGS Genetic Test
The purpose of this test is to detect mutations in the ABCC8 gene that are linked to an increased ri...
ABCC8 Gene Diabetes mellitus, permanent neonatal NGS Genetic Test
The purpose of this test is to diagnose ABCC8 gene-related permanent neonatal diabetes by detecting...
DMGDH Gene Dimethylglycine dehydrogenase deficiency NGS Genetic Test
The purpose of this test is to diagnose DMGDH gene dimethylglycine dehydrogenase deficiency by detec...
KCNJ11 Gene Diabetes mellitus, noninsulin-dependent NGS Genetic Test
To identify genetic mutations in the KCNJ11 gene that may cause or predispose individuals to noninsu...
FANCA Gene Fanconi anemia type A NGS Genetic Test
To identify mutations in the FANCA gene for accurate diagnosis of Fanconi Anemia Type A, aiding in e...
KHK Gene Fructosuria essential NGS Genetic Test
To detect mutations in the KHK gene for accurate diagnosis of fructosuria essential, enabling early...
PSAP Gene Gaucher disease, atypical NGS Genetic Test
The purpose of the PSAP Gene Gaucher Disease Atypical NGS Genetic Test is to identify mutations in t...
GBA Gene Gaucher disease, perinatal lethal NGS Genetic Test
The purpose of this test is to diagnose Gaucher disease, particularly the perinatal lethal form, by...
ALG8 Gene Glycosylation disorder type 1H NGS Genetic Test
To detect pathogenic mutations in the ALG8 gene responsible for glycosylation disorder type 1H, aidi...
SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic Test
The purpose of the SLC6A9 gene glycine encephalopathy NGS genetic test is to identify mutations in t...
ALG12 Gene Glycosylation disorder type 1G NGS Genetic Test
The purpose of the ALG12 Gene Glycosylation Disorder Type 1G NGS Genetic Test is to detect mutations...
SUGCT Gene Glutaric aciduria type 3 NGS Genetic Test
The purpose of the SUGCT Gene Glutaric Aciduria Type 3 NGS Genetic Test is to identify pathogenic mu...
SLC35A1 Gene Glycosylation disorder type 2F NGS Genetic Test
To identify mutations in the SLC35A1 gene associated with Glycosylation Disorder Type 2F, aiding in...
ETFDH Gene Glutaric acidemia type 2C NGS Genetic Test
The purpose of the ETFDH Gene Glutaric acidemia type 2C NGS Genetic Test is to identify pathogenic o...
COG1 Gene Glycosylation disorder type 2G NGS Genetic Test
To identify mutations in the COG1 gene for diagnosing Glycosylation Disorder Type 2G, guiding treatm...
COG8 Gene Glycosylation disorder type 2H NGS Genetic Test
To identify pathogenic variants in the COG8 gene responsible for Glycosylation Disorder Type 2H, ena...
HFE Gene Hemochromatosis classical NGS Genetic Test
To diagnose HFE Gene Hemochromatosis by identifying mutations in the HFE gene using Next-Generation...
CYP24A1 Gene Hypercalcemia infantile type NGS Genetic Test
To diagnose hypercalcemia infantile type by detecting mutations in the CYP24A1 gene using NGS techno...
CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic Test
To diagnose CA5A gene mutations causing hyperammonemia due to Carbonic Anhydrase VA Deficiency, enab...
CA12 Gene Hyperchlorhidrosis, isolated NGS Genetic Test
The purpose of this test is to detect mutations in the CA12 gene associated with hyperchlorhidrosis,...
TJP2 Gene Hypercholanemia NGS Genetic Test
The purpose of this test is to identify mutations in the TJP2 gene that cause hypercholanemia, enabl...
PCBD1 Gene Hyperphenylalaninemia, BH4 deficient, type D NGS Genetic Test
The purpose of this test is to detect mutations in the PCBD1 gene to diagnose BH4 deficient hyperphe...
AP2S1 Gene Hypocalciuric hypercalcemia, familial type 3 NGS Genetic Test
The purpose of this test is to identify mutations in the AP2S1 gene that cause familial hypocalciuri...
SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic Test
To detect mutations in the SLC34A3 gene for diagnosis of hypophosphatemic rickets with hypercalciuri...
ALPL Gene Hypophosphatasia, infantile NGS Genetic Test
To identify mutations in the ALPL gene for definitive diagnosis of infantile hypophosphatasia, asses...
PCSK9 Gene Hypercholesterolemia autosomal dominant type 3 NGS Genetic Test
The purpose of the PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 NGS Genetic Test is to...
IGF1R Gene Insulin-like growth factor resistance NGS Genetic Test
The purpose of the IGF1R Gene NGS Genetic Test is to accurately diagnose mutations in the IGF1R gene...
ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency NGS Genetic Test
To identify mutations in the ACAD8 gene responsible for Isobutyryl-CoA dehydrogenase deficiency, ena...
IVD Gene Isovaleric acidemia NGS Genetic Test
The purpose of this test is to confirm a diagnosis of isovaleric acidemia by detecting pathogenic va...
GALC Gene Krabbe disease NGS Genetic Test
To diagnose Krabbe disease by identifying mutations in the GALC gene using Next-Generation Sequencin...
PSAP Gene Krabbe disease, atypical NGS Genetic Test
To diagnose Krabbe disease caused by PSAP gene mutations using next-generation sequencing technology...
L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic Test
To identify pathogenic mutations in the L2HGDH gene for accurate diagnosis of L-2-hydroxyglutaric ac...
MCM6 Gene Lactose intolerance, adult type NGS Genetic Test
To identify genetic mutations in the MCM6 gene associated with adult-type lactose intolerance, aidin...
INS Gene Maturity-onset diabetes of the young type 10 NGS Genetic Test
To diagnose Maturity-onset diabetes of the young type 10 by detecting mutations in the INS gene usin...
ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test
The purpose of this test is to diagnose Metachromatic Leukodystrophy by identifying mutations in the...
LMBRD1 Gene Methylmalonic aciduria CblF type NGS Genetic Test
To diagnose methylmalonic aciduria CblF type by detecting mutations in the LMBRD1 gene using NGS tec...
ZFP57 Gene Maturity-onset diabetes of the young, ZFP57 related NGS Genetic Test
To identify mutations in the ZFP57 gene that are associated with maturity-onset diabetes of the youn...
SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic Test
To diagnose mitochondrial phosphate carrier deficiency by detecting pathogenic mutations in the SLC2...
MPC1 Gene Mitochondrial pyruvate carrier deficiency NGS Genetic Test
To diagnose mitochondrial pyruvate carrier deficiency by identifying mutations in the MPC1 gene usin...
GNPTAB Gene Mucolipidosis type 3 NGS Genetic Test
To diagnose Mucolipidosis type 3 by detecting pathogenic mutations in the GNPTAB gene using NGS tech...
SLC9A3R1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 NGS Genetic Test
The purpose of the SLC9A3R1 Gene NGS Genetic Test is to diagnose Nephrolithiasis/Osteoporosis, Hypop...
PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test
The purpose of this test is to identify genetic mutations in the PUS1 gene that are associated with...
MT-TE Gene Mitochondrial myopathy, infantile, transient, MT-TE related NGS Genetic Test
The purpose of this test is to detect mutations in the MT-TE gene using NGS technology for the diagn...
MTHFR Gene Homocystinuria NGS Genetic Test
The purpose of the MTHFR Gene Homocystinuria NGS Genetic Test is to identify mutations in the MTHFR...
SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic Test
The purpose of this test is to diagnose Fanconi-Bickel Syndrome by identifying mutations in the SLC2...
GNMT Gene Glycine N-methyltransferase deficiency NGS Genetic Test
To diagnose Glycine N-methyltransferase deficiency by detecting mutations in the GNMT gene using nex...
GLDC Gene Glycine encephalopathy NGS Genetic Test
The purpose of the GLDC Gene Glycine Encephalopathy NGS Genetic Test is to confirm the diagnosis of...
GPD1 Gene Hypertriglyceridemia, transient infantile NGS Genetic Test
To detect pathogenic mutations in the GPD1 gene associated with transient infantile hypertriglycerid...
ATP7A Gene Menkes disease NGS Genetic Test
To confirm the diagnosis of Menkes disease and identify specific mutations in the ATP7A gene for acc...
GNAS Gene Pseudohypoparathyroidism type 1C NGS Genetic Test
To detect pathogenic mutations in the GNAS gene associated with Pseudohypoparathyroidism type 1C, ai...
UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test
The purpose of the UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test is to identify mutati...
ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of hypermethioninemia due to adenosin...
AHCY Gene Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of AHCY gene hypermethioninemia with def...
PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of PUS1-related mitochondrial myopathy a...
Lysosomal Storage Disorder Gene Panel
The purpose of the Lysosomal Storage Disorder Gene Panel is to identify pathogenic variants in genes...
Alpha Amino Adipic Aciduria Test
The purpose of the Alpha Amino Adipic Aciduria Test is to diagnose or rule out alpha amino adipic ac...
Mitochondrial Genome Sequencing and Analysis
The purpose of mitochondrial genome sequencing is to identify pathogenic variants in the mitochondri...
Mitochondrial Genome Sequencing
The purpose of mitochondrial genome sequencing is to detect pathogenic variants in the mitochondrial...
Mitochondrial Genome Sequencing Data Analysis
The purpose of mitochondrial genome sequencing data analysis is to identify genetic variations in th...
Amyloid Protein Identification Test
The purpose of the Amyloid Protein Identification Test is to identify and diagnose amyloid protein d...
CLCNKB Gene Bartter syndrome type 3 NGS Genetic Test
To diagnose Bartter syndrome type 3 by detecting mutations in the CLCNKB gene using NGS technology.
SLC12A7 Gene Bartter syndrome NGS Genetic Test
To confirm the diagnosis of Bartter syndrome by identifying mutations in the SLC12A7 gene and other...
SLC12A5 Gene Bartter syndrome NGS Genetic Test
To detect mutations in the SLC12A5 gene associated with Bartter syndrome for accurate diagnosis and...
SLC12A2 Gene Bartter syndrome NGS Genetic Test
The purpose of the SLC12A2 Gene Bartter Syndrome NGS Genetic Test is to detect mutations in the SLC1...
KCNJ1 Gene Bartter syndrome type 2 NGS Genetic Test
To diagnose Bartter Syndrome Type 2 by detecting mutations in the KCNJ1 gene using Next-Generation S...
SLC12A3 Gene Bartter syndrome NGS Genetic Test
The purpose of the SLC12A3 Gene Bartter Syndrome NGS Genetic Test is to diagnose Bartter syndrome ca...
SLC12A1 Gene Bartter syndrome type 1 NGS Genetic Test
To identify pathogenic mutations in the SLC12A1 gene that cause Bartter Syndrome Type 1, aiding in a...
CLCNKA Gene Bartter syndrome type 4b NGS Genetic Test
The purpose of this test is to detect mutations in the CLCNKA gene to diagnose Bartter Syndrome Type...
SLC3A1 Gene Cystinuria NGS Genetic Test
The purpose of the SLC3A1 Gene Cystinuria NGS Genetic Test is to diagnose cystinuria by identifying...
PREPL Gene Cystinuria NGS Genetic Test
To diagnose cystinuria by detecting mutations in the PREPL gene using next-generation sequencing (NG...
CTNS Gene Cystinosis, nephropathic NGS Genetic Test
The purpose of this test is to detect mutations in the CTNS gene responsible for nephropathic cystin...
AQP2 Gene Diabetes insipidus, nephrogenic, autosomal NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the AQP2 gene that cause nephrogenic d...
SLC7A9 Gene Cystinuria NGS Genetic Test
To identify mutations in the SLC7A9 gene that cause cystinuria, aiding in diagnosis, family planning...
CLCN5 Gene Dent disease NGS Genetic Test
To confirm diagnosis of Dent disease by detecting mutations in the CLCN5 gene using Next-Generation...
SLC2A9 Gene Hypouricemia, renal type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the SLC2A9 gene to diagnose renal type 2 hypouric...
SLC22A12 Gene Hypouricemia, renal type 1 NGS Genetic Test
The purpose of this test is to diagnose SLC22A12 gene mutations causing renal hypouricemia, enabling...
FAN1 Gene Interstitial nephritis karyomegalic NGS Genetic Test
To identify mutations in the FAN1 gene for the diagnosis of karyomegalic interstitial nephritis, ena...
SCNN1G Gene Liddle syndrome NGS Genetic Test
The purpose of the SCNN1G Gene Liddle Syndrome NGS Genetic Test is to identify mutations in the SCNN...
APOE Gene Lipoprotein glomerulopathy NGS Genetic Test
To detect pathogenic mutations in the APOE gene responsible for lipoprotein glomerulopathy, enabling...
XPNPEP3 Gene Nephronophthisis-like nephropathy type 1 NGS Genetic Test
To detect mutations in the XPNPEP3 gene for accurate diagnosis of Nephronophthisis-like nephropathy...
PLCE1 Gene Nephrotic syndrome type 3 NGS Genetic Test
The purpose of the PLCE1 Gene Nephrotic Syndrome Type 3 NGS Genetic Test is to detect mutations in t...
NEK8 Gene Nephronophthisis type 9 NGS Genetic Test
The purpose of the NEK8 Gene Nephronophthisis Type 9 NGS Genetic Test is to diagnose NPHP9 by detect...
NPHS1 Gene Nephrosis, Finnish type NGS Genetic Test
To detect pathogenic mutations in the NPHS1 gene for diagnosis of Finnish type congenital nephrosis.
NPHS2 Gene Nephrotic syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the NPHS2 gene that cause nephrotic syndrome, a...
COQ8B Gene Nephrotic syndrome type 9 NGS Genetic Test
To identify mutations in the COQ8B gene that cause Nephrotic Syndrome Type 9, aiding in diagnosis, g...
ARHGDIA Gene Nephrotic syndrome type 8 NGS Genetic Test
The purpose of the ARHGDIA Gene Nephrotic Syndrome Type 8 NGS Genetic Test is to detect mutations in...
LAMB2 Gene Nephrotic syndrome type 5 NGS Genetic Test
To diagnose mutations in the LAMB2 gene associated with Nephrotic Syndrome Type 5, enabling early in...
GLIS2 Gene Nephronophthisis type 7 NGS Genetic Test
The purpose of this test is to diagnose Nephronophthisis Type 7 (NPHP7) by detecting mutations in th...
NPHS1 Gene Nephrotic syndrome type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the NPHS1 gene that cause nephrotic syndrome ty...
DGKE Gene Nephrotic syndrome type 7 NGS Genetic Test
To detect mutations in the DGKE gene for the diagnosis of Nephrotic Syndrome Type 7.
AGTR1 Gene Renal tubular dysgenesis NGS Genetic Test
To detect mutations in the AGTR1 gene associated with renal tubular dysgenesis and related disorders...
AGT Gene Renal tubular dysgenesis NGS Genetic Test
To diagnose Renal Tubular Dysgenesis by identifying mutations in the AGT gene using NGS technology.
REN Gene Renal tubular dysgenesis NGS Genetic Test
To identify mutations in the REN gene for accurate diagnosis and management of Renal Tubular Dysgene...
SDCCAG8 Gene Senior-Loken syndrome type 7 NGS Genetic Test
To diagnose Senior-Loken Syndrome Type 7 by detecting mutations in the SDCCAG8 gene using Next Gener...
WDR19 Gene Senior-Loken syndrome type 8 NGS Genetic Test
The purpose of the WDR19 Gene Senior-Loken Syndrome Type 8 NGS Genetic Test is to diagnose Senior-Lo...
Polycystic Kidney Disease Gene Panel
The purpose of the Polycystic Kidney Disease Gene Panel test is to detect genetic mutations associat...
EYA1 Gene Branchiootorenal Syndrome Type 1 NGS Genetic Test
The purpose of this test is to identify disease-causing sequence variants in the EYA1 gene that are...
OCRL Gene Dent disease type 2 NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the OCRL gene in an individual...
Nephrology Panel NGS Genetic Test
To identify genetic mutations linked to kidney disorders for early diagnosis, personalized treatment...
Atypical hemolytic uremic syndrome Panel NGS Genetic Test
The purpose of this test is to detect genetic mutations in complement-related genes that cause atypi...
COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the COL4A3 gene to diagnose autosoma...
COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test
To identify mutations in the COL4A4 gene for accurate diagnosis of autosomal recessive Alport syndro...
COL4A5 Gene Alport syndrome, X-Linked NGS Genetic Test
To identify mutations in the COL4A5 gene for the diagnosis of Alport syndrome, guiding treatment and...
SLC34A1 Gene Fanconi renotubular syndrome type 2 NGS Genetic Test
To detect mutations in the SLC34A1 gene for accurate diagnosis of Fanconi Renotubular Syndrome Type...
ACTN4 Gene Focal segmental glomerulosclerosis type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ACTN4 gene associated with Focal...
TRPC6 Gene Focal segmental glomerulosclerosis type 2 NGS Genetic Test
To detect mutations in the TRPC6 gene for the diagnosis of Focal Segmental Glomerulosclerosis Type 2...
CD2AP Gene Focal segmental glomerulosclerosis type 3 NGS Genetic Test
To diagnose Focal segmental glomerulosclerosis type 3 caused by mutations in the CD2AP gene, guide t...
APOL1 Gene Focal segmental glomerulosclerosis type 4, susceptibility to NGS Genetic Test
To detect mutations in the APOL1 gene that increase susceptibility to Focal Segmental Glomeruloscler...
MYO1E Gene Focal segmental glomerulosclerosis type 6 NGS Genetic Test
To identify mutations in the MYO1E gene associated with Focal Segmental Glomerulosclerosis Type 6 fo...
INF2 Gene Focal segmental glomerulosclerosis type 5 NGS Genetic Test
To identify mutations in the INF2 gene that cause Focal Segmental Glomerulosclerosis Type 5, aiding...
PAX2 Gene Focal segmental glomerulosclerosis type 7 NGS Genetic Test
The purpose of this test is to identify mutations in the PAX2 gene associated with Focal Segmental G...
LAMA5 Gene Focal segmental glomerulosclerosis, LAMA5 related NGS Genetic Test
To identify mutations in the LAMA5 gene associated with Focal Segmental Glomerulosclerosis, enabling...
CRB2 Gene Focal segmental glomerulosclerosis type 9 NGS Genetic Test
To identify mutations in the CRB2 gene that cause Focal Segmental Glomerulosclerosis Type 9, aiding...
ANLN Gene Focal segmental glomerulosclerosis type 8 NGS Genetic Test
The purpose of the ANLN Gene FSGS Type 8 NGS Genetic Test is to diagnose Focal Segmental Glomerulosc...
SLC12A3 Gene Gitelman syndrome NGS Genetic Test
To identify mutations in the SLC12A3 gene for diagnosis of Gitelman syndrome.
UMOD Gene Glomerulocystic kidney disease with hyperuricemia and isosthenuria NGS Genetic Test
To diagnose UMOD gene mutations causing glomerulocystic kidney disease with hyperuricemia and isosth...
CFB Gene Hemolytic uremic syndrome NGS Genetic Test
The purpose of the CFB Gene Hemolytic Uremic Syndrome NGS Genetic Test is to diagnose mutations in t...
CFHR1 Gene Hemolytic uremic syndrome NGS Genetic Test
To diagnose Hemolytic Uremic Syndrome caused by mutations in the CFHR1 gene using NGS technology.
CFH Gene Hemolytic uremic syndrome NGS Genetic Test
To identify genetic mutations in the CFH gene associated with Hemolytic Uremic Syndrome (HUS), aidin...
CFHR2 Gene Hemolytic uremic syndrome NGS Genetic Test
To identify mutations or variants in the CFHR2 gene that may cause or increase the risk of Hemolytic...
CFHR3 Gene Hemolytic uremic syndrome NGS Genetic Test
The purpose of the CFHR3 Gene HUS NGS Genetic Test is to detect mutations in the CFHR3 gene that may...
CFHR4 Gene Hemolytic uremic syndrome NGS Genetic Test
To identify mutations in the CFHR4 gene associated with Hemolytic Uremic Syndrome (HUS), aiding in d...
CFHR5 Gene Hemolytic uremic syndrome NGS Genetic Test
To diagnose genetic mutations in the CFHR5 gene that cause atypical Hemolytic Uremic Syndrome (HUS),...
THBD Gene Hemolytic uremic syndrome NGS Genetic Test
To detect mutations in the THBD gene associated with hemolytic uremic syndrome, aiding in early diag...
CD46 Gene Hemolytic uremic syndrome, atypical type 2, susceptibility to NGS Genetic Test
To identify mutations in the CD46 gene for diagnosing susceptibility to atypical hemolytic uremic sy...
CFI Gene Hemolytic uremic syndrome NGS Genetic Test
The purpose of the CFI Gene HUS NGS Genetic Test is to detect mutations in the CFI gene responsible...
UMOD Gene Hyperuricemic nephropathy, familial juvenile type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the UMOD gene that cause hyperuricemic nephropa...
UMOD Gene Medullary cystic kidney disease type 2 NGS Genetic Test
To diagnose Medullary Cystic Kidney Disease Type 2 by detecting mutations in the UMOD gene using NGS...
AVPR2 Gene Nephrogenic syndrome of inapproriate antidiuresis NGS Genetic Test
To diagnose mutations in the AVPR2 gene associated with Nephrogenic Syndrome of Inappropriate Antidi...
CLCN5 Gene Nephrolithiasis type 1 NGS Genetic Test
The purpose of the CLCN5 Gene Nephrolithiasis Type 1 NGS Genetic Test is to detect mutations in the...
TTC21B Gene Nephronophthisis type 12 NGS Genetic Test
To identify mutations in the TTC21B gene for diagnosis of nephronophthisis type 12.
NPHP1 Gene Nephronophthisis type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the NPHP1 gene to diagnose Nephronophthisis typ...
ZNF423 Gene Nephronophthisis type 14 NGS Genetic Test
To identify mutations in the ZNF423 gene associated with Nephronophthisis type 14 for accurate diagn...
WDR19 Gene Nephronophthisis type 13 NGS Genetic Test
To detect pathogenic mutations in the WDR19 gene for the diagnosis of Nephronophthisis type 13, a ra...
CEP164 Gene Nephronophthisis type 15 NGS Genetic Test
To diagnose Nephronophthisis type 15 by detecting pathogenic mutations in the CEP164 gene using Next...
INVS Gene Nephronophthisis type 2 NGS Genetic Test
To diagnose Nephronophthisis type 2 by identifying genetic mutations in the INVS gene using NGS tech...
ANKS6 Gene Nephronophthisis type 16 NGS Genetic Test
The purpose of the ANKS6 Gene Nephronophthisis Type 16 NGS Genetic Test is to identify mutations in...
NPHP4 Gene Nephronophthisis type 4 NGS Genetic Test
The purpose of the NPHP4 Gene Nephronophthisis Type 4 NGS Genetic Test is to identify mutations in t...
DCDC2 Gene Nephronophthisis type 19 NGS Genetic Test
To identify pathogenic mutations in the DCDC2 gene for the diagnosis of Nephronophthisis type 19, en...
NPHP3 Gene Nephronophthisis type 3 NGS Genetic Test
To diagnose Nephronophthisis type 3 by detecting pathogenic mutations in the NPHP3 gene using next-g...
PKHD1 Gene Polycystic kidney and hepatic disease NGS Genetic Test
The purpose of the PKHD1 Gene Polycystic Kidney and Hepatic Disease NGS Genetic Test is to accuratel...
PKHD1 Gene Polycystic kidney disease type 1, autosomal recessive NGS Genetic Test
The PKHD1 Gene Polycystic Kidney Disease Type 1 NGS Genetic Test is designed to identify mutations i...
PKD2 Gene Polycystic kidney disease type 2, autosomal dominant NGS Genetic Test
The purpose of this test is to detect mutations in the PKD2 gene to confirm a diagnosis of autosomal...
PKD1 Gene Polycystic kidney disease type 1, autosomal dominant NGS Genetic Test
The purpose of the PKD1 Gene Polycystic Kidney Disease Type 1 NGS Genetic Test is to detect mutation...
CLCN5 Gene Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis NGS Genetic Test
To identify mutations in the CLCN5 gene that cause proteinuria, low molecular weight proteinuria, an...
SCNN1B Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test
The purpose of this test is to detect mutations in the SCNN1B gene to confirm a diagnosis of autosom...
SCNN1G Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test
To diagnose SCNN1G gene mutations for pseudohypoaldosteronism type 1, enabling accurate clinical man...
BICC1 Gene Renal cystic dysplasia, cystic, susceptibility to NGS Genetic Test
The purpose of this test is to identify mutations in the BICC1 gene that increase susceptibility to...
SLC26A1 Gene Renal dysfunction due to SLC26A1 deficiency NGS Genetic Test
The purpose of this test is to diagnose renal dysfunction caused by SLC26A1 gene deficiency through...
SLC5A2 Gene Renal glucosuria NGS Genetic Test
To diagnose renal glucosuria caused by mutations in the SLC5A2 gene using next-generation sequencing...
ACE Gene Renal tubular dysgenesis NGS Genetic Test
To detect mutations in the ACE gene associated with renal tubular dysgenesis for accurate diagnosis,...
ATP6V1B1 Gene Renal tubular acidosis with deafness NGS Genetic Test
To diagnose Renal Tubular Acidosis with Deafness caused by ATP6V1B1 gene mutations, identify carrier...
SLC4A5 Gene Renal tubular acidosis, SLC4A5 related NGS Genetic Test
To identify mutations in the SLC4A5 gene associated with renal tubular acidosis, aiding in diagnosis...
ATP6V0A4 Gene Renal tubular acidosis, distal, autosomal recessive NGS Genetic Test
To detect mutations in the ATP6V0A4 gene that cause distal renal tubular acidosis, aiding in diagnos...
ROBO2 Gene Vesicoureteral reflux type 2 NGS Genetic Test
To identify genetic mutations in the ROBO2 gene that increase the risk of Vesicoureteral Reflux Type...
SLC4A4 Gene Renal tubular acidosis, proximal, with ocular abnormalities NGS Genetic Test
The purpose of this test is to identify mutations in the SLC4A4 gene that cause proximal renal tubul...
SOX17 Gene Vesicoureteral reflux type 3 NGS Genetic Test
To identify genetic mutations in the SOX17 gene that cause Vesicoureteral Reflux Type 3, aiding in d...
AR Gene Hypospadias type 1, X-linked NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the AR gene that cause X-linked hyp...
MAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic Test
The purpose of this test is to detect mutations in the MAMLD1 gene that are associated with X-linked...
Analyzer 18 SMA 18 Test Panel
The Analyzer 18 SMA 18 Test Panel is used to diagnose Spinal Muscular Atrophy by identifying genetic...
Angelman Syndrome Test
The purpose of the Angelman Syndrome test is to confirm the diagnosis of Angelman Syndrome by detect...
APO E Genotyping Test
The primary purpose of the APO E Genotyping Test is to identify genetic variants in the APO E gene t...
Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
The purpose of this test is to identify mutations in the dystrophin gene that cause Duchenne or Beck...
Episodic Ataxia Type 1 Hotspot Test
To detect specific mutations in the KCNA1 gene for diagnosis of Episodic Ataxia Type 1, guiding clin...
Episodic Ataxia Comprehensive Profile Hotspot Test
The purpose of the Episodic Ataxia Comprehensive Profile Hotspot Test is to detect genetic mutations...
Episodic Ataxia Type 2 Hotspot Test
The purpose of the Episodic Ataxia Type 2 Hotspot Test is to detect mutations in the CACNA1A gene as...
HLA - Narcolepsy (DRB115 DQB106:02 DQA1*01:02) Test
The purpose of the HLA Narcolepsy test is to detect genetic markers (DRB1*15, DQB1*06:02, DQA1*01:02...
Leigh Syndrome Mitochondrial Mutation Detection Test
The purpose of this test is to detect mutations in mitochondrial DNA that cause Leigh syndrome, aidi...
Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
To detect pathogenic mutations in the MLC1 gene associated with Megalencephalic Leukoencephalopathy...
Mitochondrial Mutation Detection Comprehensive Panel Test
The purpose of the Mitochondrial Mutation Detection Comprehensive Panel Test is to detect mutations...
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Mutation Detection Test
To detect mutations in mitochondrial DNA that cause Mitochondrial Encephalomyopathy Lactic Acidosis...
Myotonic Dystrophy Type 2 Test
To detect mutations in the CNBP gene associated with Myotonic Dystrophy Type 2 for diagnosis, geneti...
Notch3 Mutation Detection CADASIL Test
To detect mutations in the NOTCH3 gene for diagnosis of CADASIL, aiding in early intervention and fa...
Nx Gen Sequencing: Aicardi-Goutieres Syndrome Test
To identify mutations in genes associated with Aicardi-Goutieres Syndrome for accurate diagnosis and...
Nx Gen Sequencing: Familial Hemiplegic Migraine Test
The purpose of the Nx Gen Sequencing test for Familial Hemiplegic Migraine is to identify genetic mu...
Nx Gen Sequencing: Alexander Disease Test
The purpose of the Nx Gen Sequencing: Alexander Disease Test is to detect mutations in the GFAP gene...
Nx Gen Sequencing: Alzheimer's Disease Test
To analyze genes APOE, APP, PSEN1, and PSEN2 for genetic mutations associated with Alzheimer's disea...
Nx Gen Sequencing: Amyotrophic Lateral Sclerosis Test
The purpose of this test is to detect genetic mutations linked to Amyotrophic Lateral Sclerosis (ALS...
Nx Gen Sequencing: Ataxia-Telangiectasia Test
The purpose of the Nx Gen Sequencing: Ataxia-Telangiectasia Test is to accurately diagnose Ataxia-Te...
Nx Gen Sequencing: Adrenoleukodystrophy Test
The primary purpose of the Nx Gen Sequencing: Adrenoleukodystrophy Test is to identify pathogenic or...
Nx Gen Sequencing: Bethlem Myopathy Myofibrillar Myopathy & Ullrich Muscular Dystrophy Test
To identify genetic mutations responsible for Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich M...
Nx Gen Sequencing: Dravet's Syndrome & Early Infantile Epileptic Encephalopathy Test
The purpose of this genetic test is to provide a definitive diagnosis for Dravet's Syndrome and Earl...
Nx Gen Sequencing: Comprehensive Epilepsy Test
The purpose of this test is to identify genetic mutations associated with epilepsy, enabling healthc...
Nx Gen Sequencing: Dystonia Test
To identify genetic mutations associated with dystonia for accurate diagnosis, classification, and p...
Nx Gen Sequencing: Canavan Disease Test
The purpose of the Nx Gen Sequencing for Canavan disease is to identify mutations in the ASPA gene t...
Nx Gen Sequencing: Episodic Ataxia Test
The purpose of this test is to identify genetic mutations responsible for Episodic Ataxia, enabling...
Nx Gen Sequencing: Charcot-Marie-Tooth Disease & Sensory Neuropathies Test
The purpose of the Nx Gen Sequencing test for Charcot-Marie-Tooth Disease and Sensory Neuropathies i...
Nx Gen Sequencing: Megalencephalic Leukoencephalopathy with Subcortical Cysts Test
The purpose of Nx Gen Sequencing for MLC is to identify genetic mutations in the MLC1 and HEPACAM ge...
SCA-23 (Spinocerebellar Ataxia): PDYN Gene Mutation Test
To confirm the presence of PDYN gene mutations associated with Spinocerebellar Ataxia Type 23, aidin...
SCA-2 (Spinocerebellar Ataxia): ATXN2 Gene Mutation Test
The purpose of this test is to detect mutations in the ATXN2 gene that cause Spinocerebellar Ataxia...
SCA-8 (Spinocerebellar Ataxia): ATXN8OS & ATXN8 Gene Mutation Test
To detect mutations in the ATXN8OS and ATXN8 genes, specifically identifying expansions of CTG and C...
SCA-17 (Spinocerebellar Ataxia): TBP Gene Mutation Test
The purpose of the SCA-17 TBP gene mutation test is to diagnose Spinocerebellar Ataxia Type 17 by de...
SCA-3 (Spinocerebellar Ataxia): ATXN3 Gene Mutation Test
To detect mutations in the ATXN3 gene associated with Spinocerebellar Ataxia Type 3 (SCA-3).
SCA-6 (Spinocerebellar Ataxia): CACNA1A Gene Mutation Test
The purpose of the SCA-6 genetic test is to detect mutations in the CACNA1A gene, which are responsi...
SCA-7 (Spinocerebellar Ataxia): ATXN7 Gene Mutation Test
To detect mutations in the ATXN7 gene for diagnosis of spinocerebellar ataxia type 7, especially in...
SCA-5 (Spinocerebellar Ataxia): SPTBN2 Gene Mutation Test
This test is performed to detect mutations in the SPTBN2 gene (exon 12 hotspot locus) that cause Spi...
RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the RNASEH2A gene using Next Generatio...
DHH Gene 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy NGS Genetic Test
The purpose of this test is to confirm the diagnosis of 46,XY gonadal dysgenesis, partial, with mini...
SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the SAMHD1 gene to diagnose Aicardi-Gou...
PLXNB3 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test
The purpose of the PLXNB3 Gene Adrenoleukodystrophy X-Linked NGS Genetic Test is to identify pathoge...
ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency NGS Genetic Test
The purpose of this test is to detect mutations in the ACOX1 gene that cause acyl-CoA peroxisomal ox...
RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 NGS Genetic Test
To confirm diagnosis of Aicardi-Goutieres Syndrome Type 3 by detecting mutations in the RNASEH2C gen...
TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic Test
To diagnose Aicardi-Goutieres Syndrome Type 1 by detecting pathogenic mutations in the TREX1 gene.
ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic Test
To diagnose mutations in the ABCD1 gene responsible for Adrenoleukodystrophy (ALD) and Adrenomyelone...
RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 NGS Genetic Test
To diagnose Aicardi-Goutieres Syndrome type 2 by identifying pathogenic mutations in the RNASEH2B ge...
ABCD1 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test
To identify mutations in the ABCD1 gene for accurate diagnosis of X-linked adrenoleukodystrophy, car...
SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic Test
To detect mutations in the SLC12A6 gene for diagnosis, genetic counseling, and family planning.
IFIH1 Gene Aicardi-Goutieres Syndrome Type 7 NGS Genetic Test
The purpose of this test is to diagnose Aicardi-Goutieres Syndrome Type 7 by detecting mutations in...
DCPS Gene Al-Raqad Syndrome NGS Genetic Test
To diagnose Al-Raqad Syndrome by identifying mutations in the DCPS gene using Next-Generation Sequen...
AAAS Gene Achalasia Addisonianism Alacrimia Syndrome NGS Genetic Test
To diagnose AAAS gene mutations causing Achalasia Addisonianism Alacrimia Syndrome for early managem...
DNAJC3 Gene Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus NGS Genetic Test
The purpose of this test is to detect mutations in the DNAJC3 gene to diagnose combined cerebellar a...
CDKL5 Gene Angelman-Like Syndrome NGS Genetic Test
To identify mutations in the CDKL5 gene for the diagnosis of CDKL5-related Angelman-like syndrome, a...
NLGN3 Gene Asperger Syndrome Susceptibility X-Linked Type 2 NGS Genetic Test
The primary purpose of the NLGN3 Gene Asperger Syndrome Susceptibility X-Linked Type 2 NGS Genetic T...
MRE11 Gene Ataxia Telangiectasia Like Disorder NGS Genetic Test
Diagnosis of Ataxia Telangiectasia Like Disorder through genetic analysis of the MRE11 gene to confi...
ATM Gene Ataxia-Telangiectasia NGS Genetic Test
To detect mutations in the ATM gene for diagnosis of Ataxia-Telangiectasia, aiding in early manageme...
COX20 Gene Ataxia and Muscle Hypotonia NGS Genetic Test
To identify pathogenic mutations in the COX20 gene for the diagnosis of COX20-related ataxia and mus...
MT-TV Gene Ataxia, Progressive Seizures, Mental Deterioration, and Hearing Loss, MT-TV Related NGS Genetic Test
To identify mutations in the MT-TV gene associated with ataxia, progressive seizures, mental deterio...
PRPS1 Gene Arts Syndrome NGS Genetic Test
To confirm the diagnosis of PRPS1 Gene Arts Syndrome by detecting mutations in the PRPS1 gene using...
FLVCR1 Gene Ataxia, Posterior Column, with Retinitis Pigmentosa NGS Genetic Test
This test is used to diagnose FLVCR1 Gene Ataxia with Retinitis Pigmentosa by detecting mutations in...
SETX Gene Ataxia-Oculomotor Apraxia Type 2 NGS Genetic Test
To detect mutations in the SETX gene that cause Ataxia-Oculomotor Apraxia Type 2 (AOA2) for accurate...
PIK3R5 Gene Ataxia-Oculomotor Apraxia Type 3 NGS Genetic Test
The purpose of this test is to diagnose Ataxia-Oculomotor Apraxia Type 3 by detecting pathogenic mut...
MECP2 Gene Angelman-Like Syndrome NGS Genetic Test
The primary purpose of the MECP2 Gene Angelman-Like Syndrome NGS Genetic Test is to identify pathoge...
PNKP Gene Ataxia-Oculomotor Apraxia Type 4 NGS Genetic Test
To diagnose Ataxia-Oculomotor Apraxia Type 4 by identifying pathogenic mutations in the PNKP gene us...
RNF170 Gene Ataxia, Sensory Type 1, Autosomal Dominant NGS Genetic Test
The purpose of the RNF170 Gene Ataxia, Sensory Type 1, Autosomal Dominant NGS Genetic Test is to det...
DRD4 Gene Attention Deficit-Hyperactivity Disorder NGS Genetic Test
To identify genetic variations in the DRD4 gene associated with Attention Deficit-Hyperactivity Diso...
DRD5 Gene Attention Deficit-Hyperactivity Disorder NGS Genetic Test
The purpose of the DRD5 Gene ADHD NGS Genetic Test is to identify genetic variations in the DRD5 gen...
BPIFA3 Gene Autism Spectrum Disorder NGS Genetic Test
The purpose of this test is to detect genetic variations in the BPIFA3 gene that may be associated w...
ANKS3 Gene Autism Spectrum Disorder NGS Genetic Test
To diagnose autism spectrum disorder and identify genetic variations in the ANKS3 gene that may cont...
BIN1 Gene Centronuclear Myopathy Type 2 NGS Genetic Test
To detect mutations in the BIN1 gene associated with Centronuclear Myopathy Type 2, aiding in diagno...
CP Gene Cerebellar Ataxia NGS Genetic Test
The purpose of this test is to identify mutations in the CP gene associated with cerebellar ataxia,...
GBA2 Gene Cerebellar Ataxia with Spasticity NGS Genetic Test
To diagnose cerebellar ataxia with spasticity caused by GBA2 gene mutations, enabling informed clini...
ASCL1 Gene Central Hypoventilation Syndrome, Congenital NGS Genetic Test
To detect mutations in the ASCL1 gene for the diagnosis of congenital central hypoventilation syndro...
SNX14 Gene Cerebellar Ataxia, SNX14 Related NGS Genetic Test
The purpose of the SNX14 Gene Cerebellar Ataxia NGS Genetic Test is to detect mutations in the SNX14...
DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy, Autosomal Recessive NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the DNMT1 gene responsible...
CAMTA1 Gene Cerebellar Ataxia, Nonprogressive, with Mental Retardation NGS Genetic Test
The purpose of this test is to diagnose CAMTA1 Gene Cerebellar Ataxia by detecting pathogenic mutati...
DNM2 Gene Centronuclear Myopathy Type 1 NGS Genetic Test
To identify mutations in the DNM2 gene that cause Centronuclear Myopathy Type 1, aiding in diagnosis...
SPEG Gene Centronuclear Myopathy Type 5 NGS Genetic Test
To identify pathogenic mutations in the SPEG gene for definitive diagnosis of centronuclear myopathy...
ATP8A2 Gene Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 NGS Genetic Test
To diagnose Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 by detecting m...
CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test
The purpose of the CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test is to detect mutations...
WDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 NGS Genetic Test
The WDR81 Gene CAMRQ2 NGS Genetic Test is performed to identify pathogenic mutations in the WDR81 ge...
CA8 Gene Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion Type 3 NGS Genetic Test
To identify mutations in the CA8 gene for diagnosis of cerebellar ataxia and mental retardation with...
MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic Test
The MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic Test is performed to confirm a molecular d...
VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the VLDLR gene t...
PMP22 Gene CMT1E NGS Genetic Test
To identify pathogenic mutations in the PMP22 gene that cause Charcot-Marie-Tooth disease type 1E (C...
MFN2 Gene CMT2A2 NGS Genetic Test
To diagnose Charcot-Marie-Tooth disease type 2A2 (CMT2A2) by detecting mutations in the MFN2 gene us...
MPZ Gene CMT2I NGS Genetic Test
The purpose of the MPZ Gene CMT2I NGS Genetic Test is to identify mutations in the MPZ gene responsi...
RAB7A Gene CMT2B NGS Genetic Test
To detect pathogenic mutations in the RAB7A gene for accurate diagnosis of Charcot-Marie-Tooth disea...
TRPV4 Gene CMT2C NGS Genetic Test
To diagnose Charcot-Marie-Tooth disease type 2C by identifying pathogenic mutations in the TRPV4 gen...
MPZ Gene CMT2J NGS Genetic Test
To identify pathogenic mutations in the MPZ gene for confirming diagnosis of Charcot-Marie-Tooth dis...
HSPB1 Gene CMT2F NGS Genetic Test
To detect mutations in the HSPB1 gene for diagnosis of Charcot-Marie-Tooth disease type 2F (CMT2F).
LMNA Gene CMT2B1 NGS Genetic Test
The primary purpose of the LMNA Gene CMT2B1 NGS Genetic Test is to confirm or rule out a genetic dia...
KIF1B Gene CMT2A1 NGS Genetic Test
To identify pathogenic mutations in the KIF1B gene for definitive diagnosis of Charcot-Marie-Tooth d...
GARS1 Gene CMT2D NGS Genetic Test
To confirm a diagnosis of Charcot-Marie-Tooth disease type 2D (CMT2D) caused by mutations in the GAR...
SBF2 Gene CMT4B2 NGS Genetic Test
The purpose of the SBF2 Gene CMT4B2 NGS Genetic Test is to confirm a diagnosis of CMT4B2 by detectin...
MTMR2 Gene CMT4B1 NGS Genetic Test
The primary purpose of the MTMR2 Gene CMT4B1 NGS Genetic Test is to identify pathogenic mutations in...
GDAP1 Gene CMT4A NGS Genetic Test
The purpose of the GDAP1 Gene CMT4A NGS Genetic Test is to diagnose Charcot-Marie-Tooth disease type...
CC2D2A Gene COACH syndrome NGS Genetic Test
To diagnose COACH syndrome by detecting pathogenic mutations in the CC2D2A gene, enabling early inte...
SH3TC2 Gene CMT4C NGS Genetic Test
The purpose of the SH3TC2 Gene CMT4C NGS Genetic Test is to detect pathogenic mutations in the SH3TC...
COQ9 Gene Coenzyme Q10 deficiency type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the COQ9 gene responsible for Coenzyme Q10 Defici...
TMEM67 Gene COACH syndrome NGS Genetic Test
The purpose of the TMEM67 Gene COACH Syndrome NGS Genetic Test is to identify pathogenic mutations i...
CNTN1 Gene Compton-North congenital myopathy NGS Genetic Test
The purpose of this test is to confirm or rule out a genetic diagnosis of Compton-North congenital m...
VPS13B Gene Cohen syndrome NGS Genetic Test
The purpose of the VPS13B Gene Cohen Syndrome NGS Genetic Test is to provide a definitive molecular...
PDSS2 Gene Coenzyme Q10 deficiency type 3 NGS Genetic Test
The primary purpose of this test is to identify pathogenic mutations in the PDSS2 gene that cause Co...
RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic Test
The purpose of the RPS6KA3 Gene Coffin-Lowry Syndrome NGS Genetic Test is to confirm the diagnosis o...
PDSS1 Gene Coenzyme Q10 deficiency type 2 NGS Genetic Test
The purpose of this test is to diagnose Coenzyme Q10 deficiency type 2 caused by mutations in the PD...
RPGRIP1L Gene COACH syndrome NGS Genetic Test
The primary purpose of the RPGRIP1L Gene COACH Syndrome NGS Genetic Test is to identify pathogenic o...
B3GALNT2 Gene Congenital muscular dystrophy and hypoglycosylation of α-dystroglycan NGS Genetic Test
The purpose of this test is to confirm the presence of mutations in the B3GALNT2 gene, which causes...
COQ2 Gene Coenzyme Q10 deficiency type 1 NGS Genetic Test
To diagnose Coenzyme Q10 deficiency type 1 by identifying pathogenic mutations in the COQ2 gene usin...
KCTD17 Gene DYT26, myoclonic NGS Genetic Test
The purpose of the KCTD17 Gene DYT26 NGS Genetic Test is to confirm the diagnosis of DYT26 by detect...
SLC2A1 Gene DYT18 NGS Genetic Test
To diagnose DYT18 by identifying mutations in the SLC2A1 gene, facilitating early management and gen...
DRD2 Gene DYT11, DRD2 related NGS Genetic Test
To detect mutations in the DRD2 gene associated with DYT11 dystonia, enabling precise diagnosis and...
TIMM8A Gene Dystonia-deafness syndrome NGS Genetic Test
To detect pathogenic mutations in the TIMM8A gene for the diagnosis of dystonia-deafness syndrome, a...
HPCA Gene DYT2 NGS Genetic Test
The primary purpose of the HPCA Gene DYT2 NGS Genetic Test is to confirm or rule out a diagnosis of...
PRRT2 Gene DYT10 NGS Genetic Test
To diagnose movement disorders caused by PRRT2 gene mutations, such as Paroxysmal Kinesigenic Dyskin...
PRKRA Gene DYT16 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the PRKRA gene to confirm a diagnosis...
CACNA1B Gene DYT23 NGS Genetic Test
The purpose of the CACNA1B Gene DYT23 NGS Genetic Test is to identify mutations in the CACNA1B gene...
ANO3 Gene DYT24 NGS Genetic Test
To detect mutations in the ANO3 gene associated with DYT24 dystonia for diagnostic and management pu...
ATP1A3 Gene DYT12 NGS Genetic Test
The purpose of this test is to diagnose mutations in the ATP1A3 gene associated with Rapid-Onset Dys...
SPR Gene Dystonia, DOPA-responsive, autosomanl recessive NGS Genetic Test
The purpose of this test is to diagnose SPR gene dystonia by detecting pathogenic mutations in the S...
COL6A3 Gene DYT27 NGS Genetic Test
The purpose of the COL6A3 Gene DYT27 NGS Genetic Test is to detect mutations in the COL6A3 gene asso...
GNAL Gene DYT25 NGS Genetic Test
To diagnose movement disorders caused by mutations in the GNAL gene, such as DYT25 dystonia, and to...
TOR1A Gene DYT1 NGS Genetic Test
The primary purpose of the TOR1A Gene DYT1 NGS Genetic Test is to confirm or rule out a genetic diag...
GABRA1 Gene Early infantile epileptic encephalopathy type 19 NGS Genetic Test
To identify mutations in the GABRA1 gene responsible for early infantile epileptic encephalopathy ty...
CDKL5 Gene Early infantile epileptic encephalopathy type 2 NGS Genetic Test
The purpose of the CDKL5 Gene EIEE2 NGS Genetic Test is to diagnose early infantile epileptic enceph...
ST3GAL3 Gene Early infantile epileptic encephalopathy type 15 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ST3GAL3 gene associated with EIE...
PLCB1 Gene Early infantile epileptic encephalopathy type 12 NGS Genetic Test
To detect mutations in the PLCB1 gene for definitive diagnosis of Early Infantile Epileptic Encephal...
PIGA Gene Early infantile epileptic encephalopathy type 20 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the PIGA gene for the diagnosis of e...
NECAP1 Gene Early infantile epileptic encephalopathy type 21 NGS Genetic Test
The purpose of the NECAP1 Gene EIEE21 NGS Genetic Test is to accurately diagnose Early Infantile Epi...
SCN8A Gene Early infantile epileptic encephalopathy type 13 NGS Genetic Test
To diagnose mutations in the SCN8A gene that cause Early Infantile Epileptic Encephalopathy Type 13,...
GNAO1 Gene Early infantile epileptic encephalopathy type 17 NGS Genetic Test
The purpose of this test is to identify mutations in the GNAO1 gene through Next-Generation Sequenci...
WWOX Gene Early infantile epileptic encephalopathy type 28 NGS Genetic Test
The purpose of the WWOX Gene NGS Genetic Test is to accurately diagnose Early Infantile Epileptic En...
KCNT1 Gene Early infantile epileptic encephalopathy type 14 NGS Genetic Test
The primary purpose of the KCNT1 Gene NGS Genetic Test is to detect mutations in the KCNT1 gene that...
AARS1 Gene Early infantile epileptic encephalopathy type 29 NGS Genetic Test
The purpose of the AARS1 Gene NGS Genetic Test is to detect mutations in the AARS1 gene associated w...
TBC1D24 Gene Early infantile epileptic encephalopathy type 16 NGS Genetic Test
The primary purpose of the TBC1D24 Gene EIEE Type 16 NGS Genetic Test is to identify pathogenic or l...
DOCK7 Gene Early infantile epileptic encephalopathy type 23 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the DOCK7 gene to confirm a diagnosis o...
GRIN2B Gene Early infantile epileptic encephalopathy type 27 NGS Genetic Test
The purpose of the GRIN2B Gene Early Infantile Epileptic Encephalopathy Type 27 NGS Genetic Test is...
HCN1 Gene Early infantile epileptic encephalopathy type 24 NGS Genetic Test
The purpose of the HCN1 Gene EIEE24 NGS Genetic Test is to identify pathogenic or likely pathogenic...
SIK1 Gene Early infantile epileptic encephalopathy type 30 NGS Genetic Test
The purpose of this test is to detect mutations in the SIK1 gene to diagnose Early Infantile Epilept...
SLC25A22 Gene Early infantile epileptic encephalopathy type 3 NGS Genetic Test
The purpose of the SLC25A22 Gene EIEE Type 3 NGS Genetic Test is to identify mutations in the SLC25A...
MED12 Gene FG syndrome type 1 NGS Genetic Test
The purpose of the MED12 Gene FG syndrome type 1 NGS Genetic Test is to detect mutations in the MED1...
ADGRV1 Gene Febrile seizures, familial, type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the ADGRV1 gene for the diagnosis of f...
SCN11A Gene Episodic pain syndrome type 3, familial NGS Genetic Test
The purpose of the SCN11A gene NGS genetic test is to identify mutations in the SCN11A gene associat...
ETHE1 Gene Ethylmalonic encephalopathy NGS Genetic Test
The purpose of this test is to identify mutations in the ETHE1 gene to confirm a diagnosis of ethylm...
PRNP Gene Fatal familial imsomnia NGS Genetic Test
To identify mutations in the PRNP gene associated with Fatal Familial Insomnia for diagnostic confir...
FAT1 Gene Facioscapulohumeral dystrophy-like phenotype, FAT1 related NGS Genetic Test
To identify pathogenic mutations in the FAT1 gene using next-generation sequencing for accurate diag...
HOXB1 Gene Facial paresis type 3 NGS Genetic Test
To detect mutations in the HOXB1 gene associated with facial paresis type 3, enabling accurate diagn...
FLNC Gene Filaminopathy NGS Genetic Test
To confirm diagnosis of FLNC gene filaminopathy through detection of mutations in the FLNC gene usin...
CACNA1A Gene Familial hemiplegic migraine type 1 NGS Genetic Test
To identify mutations in the CACNA1A gene for diagnosis of Familial Hemiplegic Migraine Type 1.
TBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic Test
The purpose of this NGS Genetic Test is to identify mutations in the TBC1D24 gene associated with fa...
ATP1A2 Gene Familial hemiplegic migraine type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the ATP1A2 gene to confirm a diagnosis of Familia...
SCN9A Gene Erythermalgia, primary NGS Genetic Test
The primary purpose of the SCN9A Gene Erythermalgia NGS Genetic Test is to identify pathogenic or li...
SCN1A Gene Familial hemiplegic migraine type 3 NGS Genetic Test
This test is performed to identify pathogenic or likely pathogenic mutations in the SCN1A gene that...
FLNA Gene FG syndrome type 2 NGS Genetic Test
To identify pathogenic mutations in the FLNA gene that cause FG Syndrome Type 2, facilitating accura...
FMR1 Gene Fragile X syndrome NGS Genetic Test
The purpose of the FMR1 Gene Fragile X Syndrome NGS Genetic Test is to diagnose Fragile X Syndrome b...
FMR1 Gene Fragile X tremor/ataxia syndrome NGS Genetic Test
The purpose of this test is to diagnose Fragile X tremor/ataxia syndrome (FXTAS) by detecting mutati...
FUCA1 Gene Fucosidosis NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of fucosidosis by identifying mutatio...
FKTN Gene Fukuyama congenital muscular dystrophy NGS Genetic Test
The purpose of this test is to diagnose Fukuyama Congenital Muscular Dystrophy by detecting mutation...
STX1B Gene Generalized epilepsy with febrile seizures plus type 9 NGS Genetic Test
The primary purpose of this test is to identify mutations in the STX1B gene that are responsible for...
KCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia NGS Genetic Test
To identify mutations in the KCNMA1 gene that cause generalized epilepsy and paroxysmal dyskinesia f...
SCN9A Gene Generalized epilepsy with febrile seizures plus type 7 NGS Genetic Test
To diagnose Generalized Epilepsy with Febrile Seizures Plus Type 7 through genetic analysis of the S...
SCN1B Gene Generalized epilepsy with febrile seizures plus type 1 NGS Genetic Test
To diagnose Generalized Epilepsy with Febrile Seizures Plus Type 1 (GEFS+) by identifying mutations...
TMEM138 Gene Joubert syndrome type 16 NGS Genetic Test
The purpose of this test is to identify mutations in the TMEM138 gene for the diagnosis of Joubert S...
CEP41 Gene Joubert syndrome type 15 NGS Genetic Test
The purpose of the CEP41 Gene Joubert Syndrome Type 15 NGS Genetic Test is to identify mutations in...
TBR1 Gene Intellectual disability, TBR1 related NGS Genetic Test
To identify pathogenic mutations in the TBR1 gene associated with intellectual disability, enabling...
INPP5E Gene Joubert syndrome type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the INPP5E gene to confirm a diagnosis of Joube...
TCTN1 Gene Joubert syndrome type 13 NGS Genetic Test
The purpose of the TCTN1 Gene Joubert Syndrome Type 13 NGS Genetic Test is to detect mutations in th...
TIMM8A Gene Jensen syndrome NGS Genetic Test
To diagnose Jensen syndrome by identifying pathogenic mutations in the TIMM8A gene using NGS technol...
CPLANE1 Gene Joubert syndrome type 17 NGS Genetic Test
The purpose of the CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic Test is to identify mutations i...
CSPP1 Gene Joubert syndrome type 21 NGS Genetic Test
The purpose of this test is to diagnose Joubert Syndrome Type 21 by identifying mutations in the CSP...
TCTN3 Gene Joubert syndrome type 18 NGS Genetic Test
The purpose of this test is to identify mutations in the TCTN3 gene associated with Joubert Syndrome...
TMEM237 Gene Joubert syndrome type 14 NGS Genetic Test
The purpose of the TMEM237 Gene Joubert Syndrome Type 14 NGS Genetic Test is to identify pathogenic...
TMEM216 Gene Joubert syndrome type 2 NGS Genetic Test
The purpose of the TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic Test is to accurately detect pat...
PDE6D Gene Joubert syndrome type 22 NGS Genetic Test
The purpose of the PDE6D Gene Joubert Syndrome Type 22 NGS Genetic Test is to confirm a clinical dia...
TCTN2 Gene Joubert syndrome type 24 NGS Genetic Test
To diagnose Joubert syndrome type 24 by identifying mutations in the TCTN2 gene using Next-Generatio...
OFD1 Gene Joubert syndrome type 10 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the OFD1 gene t...
RPGRIP1L Gene Joubert syndrome type 7 NGS Genetic Test
The purpose of the RPGRIP1L Gene Joubert Syndrome Type 7 NGS Genetic Test is to confirm a diagnosis...
TMEM67 Gene Joubert syndrome type 6 NGS Genetic Test
The purpose of this test is to detect mutations in the TMEM67 gene to confirm Joubert syndrome type...
CEP290 Gene Joubert syndrome type 5 NGS Genetic Test
The purpose of this test is to identify mutations in the CEP290 gene that cause Joubert Syndrome Typ...
AHI1 Gene Joubert syndrome type 3 NGS Genetic Test
The AHI1 Gene Joubert Syndrome Type 3 NGS Genetic Test is performed to identify pathogenic or likely...
NPHP1 Gene Joubert syndrome type 4 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the NPHP1 gene t...
EIF2B1 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
The purpose of this test is to detect mutations in the EIF2B1 gene associated with Leukoencephalopat...
SCP2 Gene Leukoencephalopathy with dystonia and motor neuropathy NGS Genetic Test
The purpose of the SCP2 Gene NGS Genetic Test is to detect pathogenic mutations in the SCP2 gene ass...
EIF2B4 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
The purpose of this test is to detect mutations in the EIF2B4 gene to confirm diagnosis of leukoence...
GBA Gene Lewy body dementia, susceptibility to NGS Genetic Test
To identify mutations in the GBA gene that increase susceptibility to Lewy Body Dementia.
LMNA Gene Limb-girdle muscular dystrophy, autosomal dominant type 1B NGS Genetic Test
To detect mutations in the LMNA gene associated with limb-girdle muscular dystrophy type 1B, aiding...
DNAJB6 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1E NGS Genetic Test
To diagnose DNAJB6 gene mutations causing limb-girdle muscular dystrophy type 1E, aiding in early ma...
EIF2B5 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
The purpose of this NGS Genetic Test is to confirm the diagnosis of vanishing white matter disease b...
EIF2B3 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
To identify mutations in the EIF2B3 gene for diagnosing vanishing white matter disease, aiding in cl...
SGCD Gene Limb-girdle muscular dystrophy, autosomal recessice type 2F NGS Genetic Test
The purpose of this test is to identify mutations in the SGCD gene that cause autosomal recessive li...
CAV3 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1C NGS Genetic Test
The purpose of the CAV3 Gene Limb-girdle muscular dystrophy NGS Genetic Test is to identify pathogen...
RNASET2 Gene Leukoencephalopathy, cystic without megalencephaly NGS Genetic Test
To diagnose RNASET2 gene mutations causing leukoencephalopathy, cystic without megalencephaly, enabl...
MYOT Gene Limb-girdle muscular dystrophy, autosomal dominant type 1A NGS Genetic Test
This test is performed to identify pathogenic or likely pathogenic variants in the MYOT gene that ca...
EIF2B2 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
The purpose of the EIF2B2 Gene Leukoencephalopathy with Vanishing White Matter NGS Genetic Test is t...
POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic Test
To diagnose limb-girdle muscular dystrophy type 12C caused by mutations in the POMK gene using next-...
NDE1 Gene Lissencephaly type 4 with microcephaly NGS Genetic Test
The purpose of this test is to detect mutations in the NDE1 gene that cause lissencephaly type 4 wit...
L1CAM Gene MASA syndrome NGS Genetic Test
The purpose of this test is to diagnose MASA syndrome by identifying pathogenic mutations in the L1C...
EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test
The primary purpose of the EFTUD2 Gene MFDM NGS Genetic Test is to detect pathogenic mutations in th...
KLF8 Gene Mental retardation non-syndromic NGS Genetic Test
The purpose of the KLF8 Gene Mental Retardation NGS Genetic Test is to detect genetic mutations in t...
ATRX Gene Mental retardation with hypotonic facies syndrome, X-linked NGS Genetic Test
The purpose of the ATRX Gene X-Linked NGS Genetic Test is to identify pathogenic mutations in the AT...
NXF5 Gene Mental retardation non-syndromic NGS Genetic Test
The purpose of this test is to identify genetic mutations in the NXF5 gene that cause non-syndromic...
ELK1 Gene Mental retardation non-syndromic NGS Genetic Test
To identify pathogenic mutations in the ELK1 gene associated with non-syndromic mental retardation,...
XBP1 Gene Major affective disorder 7 NGS Genetic Test
The purpose of the XBP1 Gene Major Affective Disorder 7 NGS Genetic Test is to detect clinically sig...
ZCCHC12 Gene Mental retardation non-syndromic NGS Genetic Test
To identify pathogenic variants in the ZCCHC12 gene that may cause non-syndromic mental retardation,...
CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic Test
To identify mutations in the CASK gene associated with mental retardation, microcephaly, and pontine...
SGCG Gene Limb-girdle muscular dystrophy, autosomal recessive type 2C NGS Genetic Test
The purpose of the SGCG Gene Limb-girdle Muscular Dystrophy Type 2C NGS Genetic Test is to identify...
SGCA Gene Limb-girdle muscular dystrophy, autosomal recessive type 2D NGS Genetic Test
The purpose of the SGCA Gene Limb-girdle Muscular Dystrophy Type 2D NGS Genetic Test is to identify...
RAB40AL Gene Mental retardation, X-linked NGS Genetic Test
To detect mutations in the RAB40AL gene associated with X-linked mental retardation, aiding in accur...
IQSEC2 Gene Mental retardation, X-linked type 1 NGS Genetic Test
To identify pathogenic mutations in the IQSEC2 gene that cause X-linked intellectual disability, aid...
ZDHHC9 Gene Mental retardation, X-linked syndromic, Raymond type NGS Genetic Test
The purpose of the ZDHHC9 Gene NGS Genetic Test is to accurately diagnose mutations in the ZDHHC9 ge...
MID2 Gene Mental retardation, X-linked type 101 NGS Genetic Test
The purpose of the MID2 Gene NGS Genetic Test is to identify mutations in the MID2 gene responsible...
UPF3B Gene Mental retardation, X-linked type 14 NGS Genetic Test
The purpose of the UPF3B Gene NGS Genetic Test is to diagnose X-linked type 14 mental retardation by...
HUWE1 Gene Mental retardation, X-linked syndromic, Turner type NGS Genetic Test
To identify pathogenic mutations in the HUWE1 gene for accurate diagnosis of mental retardation, X-l...
TUSC3 Gene Mental retardation, autosomal recessive type 7 NGS Genetic Test
To confirm diagnosis of TUSC3 gene mental retardation, identify specific pathogenic variants in the...
DDX3X Gene Mental retardation, X-linked type 102 NGS Genetic Test
To diagnose mental retardation, X-linked type 102 by detecting mutations in the DDX3X gene, enabling...
CUL4B Gene Mental retardation, X-linked type 15 NGS Genetic Test
The purpose of the CUL4B Gene Mental Retardation, X-linked Type 15 NGS Genetic Test is to diagnose g...
FGD1 Gene Mental retardation, X-linked type 16 NGS Genetic Test
To detect pathogenic mutations in the FGD1 gene responsible for X-linked mental retardation type 16,...
MECP2 Gene Mental retardation, X-Linked type 13 NGS Genetic Test
The primary purpose of the MECP2 Gene NGS Genetic Test is to diagnose genetic mutations responsible...
UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type NGS Genetic Test
The purpose of the UBE2A Gene NGS Genetic Test is to detect pathogenic mutations in the UBE2A gene a...
SLC9A6 Gene Mental retardation, X-linked syndromic, Christianson type NGS Genetic Test
The SLC9A6 Gene Christianson Syndrome NGS Genetic Test is performed to identify pathogenic mutations...
EFHC2 Gene Mental retardation, x-linked, EFHC2 related NGS Genetic Test
To detect pathogenic mutations in the EFHC2 gene associated with X-linked mental retardation, enabli...
BRWD3 Gene Mental retardation, X-linked type 93 NGS Genetic Test
The purpose of this test is to diagnose X-linked mental retardation type 93 by detecting mutations i...
NEXMIF Gene Mental retardation, X-linked, nonsyndromic NGS Genetic Test
To diagnose mutations in the NEXMIF gene responsible for X-linked nonsyndromic mental retardation, a...
USP9X Gene Mental retardation, X-linked type 99 NGS Genetic Test
To diagnose USP9X gene-related X-linked intellectual disability type 99 through detection of pathoge...
AFF2 Gene Mental retardation, X-linked, associated with fragile site FRAXE NGS Genetic Test
The purpose of the AFF2 Gene FRAXE NGS Genetic Test is to identify pathogenic mutations, including C...
MAGT1 Gene Mental retardation, X-linked type 95 NGS Genetic Test
The purpose of the MAGT1 Gene Mental Retardation X-linked type 95 NGS Genetic Test is to accurately...
ATP6AP2 Gene Mental retardation, X-linked with epilepsy NGS Genetic Test
The purpose of this test is to diagnose ATP6AP2 gene mutations in individuals presenting with sympto...
GRIA3 Gene Mental retardation, X-linked type 94 NGS Genetic Test
The purpose of this test is to detect mutations in the GRIA3 gene that cause X-linked mental retarda...
ZNF711 Gene Mental retardation, X-linked type 97 NGS Genetic Test
The purpose of the ZNF711 Gene NGS Genetic Test is to diagnose X-Linked Mental Retardation Type 97 b...
PHF8 Gene Mental retardation, X-linked, Siderius type NGS Genetic Test
The purpose of the PHF8 Gene MRXSSD NGS Genetic Test is to detect mutations in the PHF8 gene to conf...
SMS Gene Mental retardation, X-linked, Snyder-Robinson type NGS Genetic Test
The purpose of the SMS Gene NGS Genetic Test is to detect mutations in the SMS gene that cause Snyde...
SOX3 Gene Mental retardation, X-linked, with isolated growth hormone deficiency NGS Genetic Test
The purpose of the SOX3 Gene NGS Genetic Test is to detect genetic mutations in the SOX3 gene that c...
DNAL4 Gene Mirror movements type 3 NGS Genetic Test
The purpose of the DNAL4 Gene Mirror Movements Type 3 NGS Genetic Test is to detect mutations in the...
RYR1 Gene Minicore myopathy with external ophthalmoplegia NGS Genetic Test
The purpose of the RYR1 Gene Minicore Myopathy with External Ophthalmoplegia NGS Genetic Test is to...
UQCRB Gene Mitochondrial complex III deficiency NGS Genetic Test
To identify mutations in the UQCRB gene that cause mitochondrial complex III deficiency, aiding in a...
FASTKD2 Gene Mitochondrial complex IV deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the FASTKD2 gene that cause Mitochondri...
TTC19 Gene Mitochondrial complex III deficiency, nuclear type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the TTC19 gene that cause mitochondrial complex...
PET100 Gene Mitochondrial complex IV deficiency NGS Genetic Test
The purpose of the PET100 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test is to identify p...
COA8 Gene Mitochondrial complex IV deficiency NGS Genetic Test
The purpose of this test is to identify mutations in the COA8 gene that cause mitochondrial complex...
UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test
To identify mutations in the UQCC2 gene for definitive diagnosis of mitochondrial complex III defici...
RAD51 Gene Mirror movements type 2 NGS Genetic Test
The primary purpose of the RAD51 Gene Mirror Movements Type 2 NGS Genetic Test is to confirm the mol...
SDHD Gene Mitochondrial complex II deficiency NGS Genetic Test
To identify mutations in the SDHD gene that cause mitochondrial complex II deficiency, aiding in acc...
BCS1L Gene Mitochondrial complex III deficiency NGS Genetic Test
This test is performed to confirm a genetic diagnosis of mitochondrial Complex III deficiency caused...
MT-CO3 Gene Mitochondrial complex IV deficiency NGS Genetic Test
The purpose of the MT-CO3 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test is to identify p...
COX6B1 Gene Mitochondrial complex IV deficiency NGS Genetic Test
The primary purpose of the COX6B1 Gene NGS Genetic Test is to identify pathogenic mutations in the C...
MGME1 Gene Mitochondrial DNA depletion syndrome type 11 NGS Genetic Test
To identify mutations in the MGME1 gene for definitive diagnosis of Mitochondrial DNA Depletion Synd...
RRM2B Gene Mitochondrial DNA depletion syndrome 8B, MNGIE type NGS Genetic Test
To diagnose RRM2B gene mutations causing mitochondrial DNA depletion syndrome 8B, MNGIE type, enabli...
TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the TWNK gene that cause Mitochondri...
FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 NGS Genetic Test
The purpose of this test is to detect mutations in the FBXL4 gene that cause Mitochondrial DNA Deple...
TK2 Gene Mitochondrial DNA depletion syndrome NGS Genetic Test
To diagnose mutations in the TK2 gene that cause mitochondrial DNA depletion syndrome, aiding in ear...
POLG Gene Mitochondrial DNA depletion syndrome type 4B NGS Genetic Test
To identify pathogenic mutations in the POLG gene that cause mitochondrial DNA depletion syndrome ty...
MPV17 Gene Mitochondrial DNA depletion syndrome type 6 NGS Genetic Test
To detect mutations in the MPV17 gene for the diagnosis of Mitochondrial DNA Depletion Syndrome Type...
CHRNE Gene Myasthenic syndrome, congenital NGS Genetic Test
The purpose of this test is to diagnose congenital myasthenic syndrome caused by mutations in the CH...
EPM2A Gene Myoclonic epilepsy of Lafora NGS Genetic Test
The purpose of the EPM2A Gene Myoclonic Epilepsy of Lafora NGS Genetic Test is to detect mutations i...
CHRNB1 Gene Myasthenic syndrome, congenital NGS Genetic Test
The purpose of this test is to detect mutations in the CHRNB1 gene to confirm congenital myasthenic...
LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test
To identify mutations in the LPIN1 gene causing recurrent myoglobinuria for accurate diagnosis, mana...
CHRND Gene Myasthenic syndrome, congenital, type 3A, slow channel NGS Genetic Test
The purpose of this test is to identify mutations in the CHRND gene that cause congenital myasthenic...
NHLRC1 Gene Myoclonic epilepsy of Lafora NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of Myoclonic Epilepsy of Lafora...
AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic Test
To diagnose AMPD1 gene mutations causing myoadenylate deaminase deficiency, facilitating early manag...
RAPSN Gene Myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency NGS Genetic Test
To identify pathogenic mutations in the RAPSN gene that cause congenital myasthenic syndrome type 11...
ITGA7 Gene Myopathy due to Integrin 7A deficiency NGS Genetic Test
The purpose of this test is to identify genetic mutations in the ITGA7 gene that cause Integrin 7A d...
SLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic NGS Genetic Test
The purpose of this genetic test is to identify pathogenic mutations in the SLC5A7 gene responsible...
CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic Test
This NGS Genetic Test is performed to confirm a clinical diagnosis of congenital myasthenic syndrome...
ACTA1 Gene Myopathy with fiber-type disproportion NGS Genetic Test
The purpose of this test is to identify mutations in the ACTA1 gene that cause myopathy with fiber-t...
MEGF10 Gene Myopathy, areflexia, respiratory distress, and dysphagia, early-onset NGS Genetic Test
The purpose of this NGS Genetic Test is to identify pathogenic variants in the MEGF10 gene to confir...
COL6A6 Gene Myopathy, COL6A6 related NGS Genetic Test
The purpose of the COL6A6 Gene Myopathy NGS Genetic Test is to identify genetic mutations in the COL...
MICU1 Gene Myopathy with extrapyramidal signs NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the MICU1 gene through Next-Generati...
MYH7 Gene Myopathy, distal type 1 NGS Genetic Test
To identify pathogenic mutations in the MYH7 gene for the diagnosis of distal myopathy type 1, aidin...
CHRND Gene Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency NGS Genetic Test
The purpose of the CHRND Gene Myasthenic Syndrome Type 3C NGS Genetic Test is to identify pathogenic...
STIM1 Gene Myopathy, tubular aggregate, type 1 NGS Genetic Test
This test is performed to identify mutations in the STIM1 gene that cause tubular aggregate myopathy...
CRYAB Gene Myopathy, desmin related, associated with mutation in the CRYAB gene NGS Genetic Test
The purpose of the CRYAB Gene Myopathy NGS Genetic Test is to identify pathogenic or likely pathogen...
MYOT Gene Myotilinopathy NGS Genetic Test
The primary purpose of the MYOT Gene Myotilinopathy NGS Genetic Test is to identify pathogenic or li...
SELENON Gene Myopathy with fiber-type disproportion NGS Genetic Test
The SELENON Gene Myopathy with Fiber-Type Disproportion NGS Genetic Test is performed to identify pa...
WDR45 Gene Neurodegeneration with brain iron accululation type 5 NGS Genetic Test
The purpose of this genetic test is to confirm the diagnosis of neurodegeneration with brain iron ac...
CFL2 Gene Nemaline myopathy type 7 NGS Genetic Test
The purpose of this test is to diagnose Nemaline Myopathy Type 7 by detecting mutations in the CFL2...
KBTBD13 Gene Nemaline myopathy type 6 NGS Genetic Test
To diagnose Nemaline myopathy type 6 by detecting pathogenic mutations in the KBTBD13 gene using NGS...
ACTA1 Gene Nemaline myopathy type 3 NGS Genetic Test
To detect mutations in the ACTA1 gene for the diagnosis of nemaline myopathy type 3, aiding in clini...
FRMPD4 Gene Neurodevelopmental disorder, FRMPD4 related NGS Genetic Test
To identify pathogenic mutations in the FRMPD4 gene associated with neurodevelopmental disorders, ai...
NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic Test
The purpose of the NEB Gene Nemaline Myopathy Type 2 NGS Genetic Test is to detect pathogenic or lik...
APC2 Gene Neurodevelopmental disorder, APC2-related NGS Genetic Test
The purpose of the APC2 Gene Neurodevelopmental Disorder NGS Genetic Test is to identify pathogenic...
NGEF Gene Neurodevelopmental disorder, NGEF related NGS Genetic Test
The purpose of this test is to detect mutations in the NGEF gene using Next-Generation Sequencing (N...
PIGQ Gene Neurodevelopmental disorder, PIGQ related NGS Genetic Test
The purpose of the PIGQ Gene Neurodevelopmental Disorder NGS Genetic Test is to detect pathogenic mu...
SNCA Gene PARK4 Parkinson NGS Genetic Test
The purpose of the SNCA Gene PARK4 Parkinson NGS Genetic Test is to detect pathogenic mutations in t...
FBXO7 Gene PARK15 Parkinson NGS Genetic Test
The purpose of this test is to diagnose PARK15 Parkinson's disease by detecting mutations in the FBX...
PARK7 Gene PARK7 Parkinson NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the PARK7 gene for diagnosis, risk stratific...
DNAJC6 Gene PARK19 Parkinson, juvenile-onset NGS Genetic Test
The primary purpose of the DNAJC6 Gene PARK19 NGS Genetic Test is to identify pathogenic or likely p...
DNAJC13 Gene PARK21 Parkinson NGS Genetic Test
This test is performed to identify pathogenic or likely pathogenic mutations in the DNAJC13 gene tha...
PRKN Gene PARK2 Parkinson NGS Genetic Test
To detect mutations in the PRKN gene for the diagnosis of Parkinson's disease, assess genetic risk,...
PLA2G6 Gene PARK14 Parkinson NGS Genetic Test
The purpose of this test is to detect mutations in the PLA2G6 gene associated with PARK14-linked par...
SYNJ1 Gene PARK20 Parkinson NGS Genetic Test
To diagnose Parkinson's disease caused by mutations in the SYNJ1 gene, enabling personalized treatme...
HTRA2 Gene PARK13 Parkinson NGS Genetic Test
The purpose of the HTRA2 Gene PARK13 Parkinson NGS Genetic Test is to identify mutations in the HTRA...
SNCA Gene PARK1 Parkinson NGS Genetic Test
To detect pathogenic mutations in the SNCA gene associated with an increased risk of Parkinson's dis...
VPS35 Gene PARK17 Parkinson NGS Genetic Test
The primary purpose of the VPS35 Gene PARK17 Parkinson NGS Genetic Test is to identify pathogenic or...
UCHL1 Gene PARK5 Parkinson NGS Genetic Test
The purpose of this test is to identify mutations in the UCHL1 gene that may increase a person's ris...
LRRK2 Gene PARK8 Parkinson NGS Genetic Test
The primary purpose of the LRRK2 Gene PARK8 Parkinson NGS Genetic Test is to identify pathogenic or...
ZFHX4 Gene Ptosis, congenital NGS Genetic Test
To diagnose ZFHX4 gene mutations causing congenital ptosis and guide clinical management.
TANC1 Gene Psychomotor retardation NGS Genetic Test
To identify genetic mutations in the TANC1 gene that cause psychomotor retardation, aiding in diagno...
ALDH7A1 Gene Pyridoxine-dependent epilepsy NGS Genetic Test
To diagnose pyridoxine-dependent epilepsy by identifying mutations in the ALDH7A1 gene through NGS,...
MECP2 Gene Rett syndrome preserved speech variant NGS Genetic Test
The purpose of this test is to detect mutations in the MECP2 gene associated with the preserved spee...
POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic Test
To identify pathogenic mutations in the POLG2 gene for diagnosing Progressive external ophthalmopleg...
SELENON Gene Rigid spine muscular dystrophy NGS Genetic Test
To identify mutations in the SELENON gene associated with Rigid Spine Muscular Dystrophy for accurat...
SRPX2 Gene Rolandic epilepsy, mental retardation, and speech dyspraxia NGS Genetic Test
To identify mutations in the SRPX2 gene that cause Rolandic epilepsy, mental retardation, and speech...
CERS1 Gene Progressive myoclonus epilepsy type 8 NGS Genetic Test
The purpose of the CERS1 Gene PME Type 8 NGS Genetic Test is to diagnose Progressive Myoclonus Epile...
PC Gene Pyruvate carboxylase deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the PC gene tha...
CAV3 Gene Rippling muscle disease NGS Genetic Test
The purpose of the CAV3 Gene Rippling Muscle Disease NGS Genetic Test is to confirm diagnosis, ident...
PMP22 Gene Roussy-Levy syndrome NGS Genetic Test
The purpose of this test is to confirm the diagnosis of Roussy-Levy Syndrome by identifying pathogen...
TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic Test
The primary purpose of this test is to detect pathogenic or likely pathogenic variants in the TWNK g...
PQBP1 Gene Renpenning syndrome NGS Genetic Test
The purpose of the PQBP1 Gene Renpenning Syndrome NGS Genetic Test is to identify pathogenic or like...
NOTCH4 Gene Schizophrenia, NOTCH4 related NGS Genetic Test
To identify genetic variations in the NOTCH4 gene associated with increased risk of schizophrenia, a...
GRID2 Gene Schizophrenia, GRID2 related NGS Genetic Test
The purpose of the GRID2 Gene Schizophrenia NGS Genetic Test is to identify pathogenic or likely pat...
VPS37A Gene SPG53 NGS Genetic Test
To confirm the presence of VPS37A gene mutations for diagnosis of Spastic Paraplegia 53 (SPG53).
C12ORF65 Gene SPG55 NGS Genetic Test
To diagnose hereditary spastic paraplegia type 55 (SPG55) by detecting mutations in the C12ORF65 gen...
USP8 Gene SPG59, USP8 related NGS Genetic Test
To diagnose SPG59 caused by USP8 gene mutations, confirm clinical suspicion, assess genetic risk, an...
NIPA1 Gene SPG6 NGS Genetic Test
To diagnose Spastic Paraplegia Type 6 (SPG6) by identifying pathogenic mutations in the NIPA1 gene t...
AP4S1 Gene SPG52 NGS Genetic Test
To diagnose Hereditary Spastic Paraplegia type 52 (SPG52) by identifying pathogenic mutations in the...
ARL6IP1 Gene SPG61 NGS Genetic Test
To diagnose Hereditary Spastic Paraplegia caused by ARL6IP1 gene mutations and to provide genetic co...
ENTPD1 Gene SPG64 NGS Genetic Test
To diagnose Hereditary Spastic Paraplegia 64 by detecting mutations in the ENTPD1 gene, aiding in cl...
WDR48 Gene SPG60, WDR48 related NGS Genetic Test
The purpose of this test is to identify mutations in the WDR48 gene that cause SPG60, aiding in the...
CYP2U1 Gene SPG56 NGS Genetic Test
The purpose of this test is to detect mutations in the CYP2U1 gene that cause SPG56, aiding in diagn...
TFG Gene SPG57 NGS Genetic Test
To identify pathogenic mutations in the TFG gene for the diagnosis of Hereditary Spastic Paraplegia...
CYP7B1 Gene SPG5A NGS Genetic Test
The primary purpose of the CYP7B1 Gene SPG5A NGS Genetic Test is to confirm or rule out a molecular...
AMPD2 Gene SPG63 NGS Genetic Test
To diagnose Hereditary Spastic Paraplegia Type 63 (SPG63) by detecting pathogenic mutations in the A...
ARSI Gene SPG66, ARSI related NGS Genetic Test
The purpose of this test is to identify mutations in the ARSI gene to confirm the diagnosis of Hered...
DDHD2 Gene SPG54 NGS Genetic Test
The purpose of the DDHD2 Gene SPG54 NGS Genetic Test is to confirm or rule out a molecular diagnosis...
REEP2 Gene SPG72 NGS Genetic Test
The purpose of this test is to detect mutations in the REEP2 gene that cause Hereditary Spastic Para...
ZFR Gene SPG71, ZFR related NGS Genetic Test
The purpose of the ZFR Gene SPG71 NGS Genetic Test is to detect mutations in the ZFR gene associated...
CPT1C Gene SPG73 NGS Genetic Test
The purpose of the CPT1C Gene SPG73 NGS Genetic Test is to identify mutations in the CPT1C gene that...
WASHC5 Gene SPG8 NGS Genetic Test
The purpose of the WASHC5 Gene SPG8 NGS Genetic Test is to diagnose Hereditary Spastic Paraplegia Ty...
FLRT1 Gene SPG68, FLRT1 related NGS Genetic Test
The primary purpose of the FLRT1 Gene SPG68 NGS Genetic Test is to confirm or rule out a molecular d...
MYOT Gene Spheroid body myopathy NGS Genetic Test
To diagnose Spheroid body myopathy by identifying pathogenic mutations in the MYOT gene using next-g...
PRKCG Gene Spinocerebellar ataxia type 14, autosomal dominant NGS Genetic Test
The purpose of the PRKCG Gene Spinocerebellar ataxia type 14 NGS Genetic Test is to diagnose SCA14 b...
KCND3 Gene Spinocerebellar ataxia type 22, autosomal dominant NGS Genetic Test
To diagnose Spinocerebellar ataxia type 22 by detecting mutations in the KCND3 gene using NGS techno...
TTBK2 Gene Spinocerebellar ataxia type 11, autosomal dominant NGS Genetic Test
The purpose of this NGS genetic test is to diagnose Spinocerebellar ataxia type 11 (SCA11) by detect...
TBP Gene Spinocerebellar ataxia type 17, autosomal dominant NGS Genetic Test
To diagnose Spinocerebellar ataxia type 17 by identifying pathogenic mutations in the TBP gene using...
ITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar Ataxia Type 29 by detecting mutations in the...
EEF2 Gene Spinocerebellar ataxia type 26, autosomal dominant NGS Genetic Test
To detect pathogenic mutations in the EEF2 gene using next-generation sequencing for definitive diag...
AFG3L2 Gene Spinocerebellar ataxia type 28, autosomal dominant NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 28 (SCA28) by detecting mutation...
WWOX Gene Spinocerebellar ataxia type 12, autosomal recessive NGS Genetic Test
To identify pathogenic mutations in the WWOX gene for the diagnosis of Spinocerebellar ataxia type 1...
BEAN1 Gene Spinocerebellar ataxia type 31, autosomal dominant NGS Genetic Test
The purpose of the BEAN1 Gene NGS Genetic Test is to detect mutations in the BEAN1 gene for confirmi...
KCNC3 Gene Spinocerebellar ataxia type 13, autosomal dominant NGS Genetic Test
The purpose of this genetic test is to confirm the diagnosis of spinocerebellar ataxia type 13 (SCA1...
PDYN Gene Spinocerebellar ataxia type 23, autosomal dominant NGS Genetic Test
To detect pathogenic mutations in the PDYN gene for definitive diagnosis of Spinocerebellar Ataxia T...
ATXN3 Gene Spinocerebellar ataxia type 3, autosomal dominant NGS Genetic Test
The purpose of the ATXN3 Gene NGS Genetic Test is to confirm or rule out a molecular diagnosis of Sp...
GRM1 Gene Spinocerebellar ataxia type 13, autosomal recessive NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the GRM1 gene t...
PEX13 Gene Zellweger syndrome NGS Genetic Test
To confirm diagnosis of Zellweger syndrome by identifying mutations in the PEX13 gene, facilitate ge...
PEX14 Gene Zellweger syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the PEX14 gene that cause Zellweger syndrome, e...
PEX12 Gene Zellweger syndrome NGS Genetic Test
To diagnose Zellweger Syndrome and other peroxisomal disorders by identifying mutations in the PEX12...
PEX2 Gene Zellweger syndrome NGS Genetic Test
To diagnose Zellweger syndrome by detecting mutations in the PEX2 gene using NGS technology, enablin...
PEX19 Gene Zellweger syndrome NGS Genetic Test
To diagnose Zellweger syndrome by detecting mutations in the PEX19 gene using Next-Generation Sequen...
PEX16 Gene Zellweger syndrome NGS Genetic Test
To detect mutations in the PEX16 gene for diagnosing Zellweger syndrome, enabling early intervention...
PEX6 Gene Zellweger syndrome NGS Genetic Test
The purpose of the PEX6 Gene Zellweger Syndrome NGS Genetic Test is to identify mutations in the PEX...
PEX10 Gene Zellweger syndrome NGS Genetic Test
The purpose of the PEX10 Gene Zellweger Syndrome NGS Genetic Test is to accurately diagnose Zellwege...
PEX1 Gene Zellweger syndrome NGS Genetic Test
To identify mutations in the PEX1 gene for accurate diagnosis of Zellweger syndrome using advanced n...
ACHE Gene Acetycholinesterase deficiency NGS Genetic Test
To identify genetic mutations in the ACHE gene that cause acetylcholinesterase deficiency, enabling...
MFSD8 Gene Ceroid lipofuscinosis neuronal type 7 NGS Genetic Test
To diagnose MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7 through genetic analysis, aiding in cli...
CLN6 Gene Ceroid lipofuscinosis neuronal type 6 NGS Genetic Test
To diagnose Ceroid lipofuscinosis neuronal type 6 by detecting pathogenic mutations in the CLN6 gene...
CTSD Gene Ceroid lipofuscinosis neuronal type 10 NGS Genetic Test
The purpose of the CTSD Gene CLN10 NGS Genetic Test is to identify pathogenic mutations in the CTSD...
CLN3 Gene Ceroid lipofuscinosis neuronal type 3 NGS Genetic Test
The purpose of the CLN3 Gene NGS Genetic Test is to detect mutations in the CLN3 gene to confirm a d...
SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic Test
To identify mutations in the SLC52A2 gene associated with Brown-Vialetto-Van Laere syndrome type 2,...
SLC52A3 Gene Fazio-Londe disease NGS Genetic Test
The purpose of this test is to detect mutations in the SLC52A3 gene to confirm or rule out Fazio-Lon...
SLC35A3 Gene Arthrogryposis, mental retardation, and seizures NGS Genetic Test
To diagnose mutations in the SLC35A3 gene that cause arthrogryposis, mental retardation, and seizure...
MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test
The purpose of the MT-TK Gene MERRF Syndrome NGS Genetic Test is to identify pathogenic mutations in...
MT-TP Gene MERRF syndrome, MT-TP related NGS Genetic Test
To identify mutations in the MT-TP gene associated with MERRF syndrome for diagnosis and management.
COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 NGS Genetic Test
The purpose of this test is to diagnose COA5 gene cardioencephalomyopathy by detecting pathogenic mu...
COX15 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 2 NGS Genetic Test
To diagnose COX15 Gene Cardioencephalomyopathy through genetic analysis.
DMD Gene Cardiomyopathy, dilated type 3B NGS Genetic Test
The purpose of this test is to identify mutations in the DMD gene associated with dilated cardiomyop...
MYH7 Gene Cardiomyopathy, familial hypertrophic type 1 NGS Genetic Test
The purpose of the MYH7 Gene Cardiomyopathy NGS Genetic Test is to identify pathogenic mutations in...
ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the ERCC6 gene to diagnose De Sanctis-Cacchione...
LAMC1 Gene Dandy-Walker malformation and occipital cephaloceles, LAMC1 related NGS Genetic Test
The purpose of the LAMC1 Gene NGS Genetic Test is to detect mutations in the LAMC1 gene that cause D...
TBC1D24 Gene DOOR syndrome NGS Genetic Test
The purpose of this test is to diagnose DOOR syndrome by detecting pathogenic mutations in the TBC1D...
LAMB1 Gene Lissencephaly type 5 NGS Genetic Test
The purpose of the LAMB1 Gene Lissencephaly Type 5 NGS Genetic Test is to detect mutations in the LA...
DCX Gene Lissencephaly, X-linked type 1 NGS Genetic Test
To diagnose DCX Gene Lissencephaly, X-linked type 1 by identifying mutations in the DCX gene using n...
RELN Gene Lissencephaly type 2 (Norman-Roberts type) NGS Genetic Test
The purpose of the RELN Gene Lissencephaly type 2 NGS Genetic Test is to diagnose mutations in the R...
CDK5RAP2 Gene Microcephaly, autosomal recessive type 3 NGS Genetic Test
The purpose of the CDK5RAP2 Gene Microcephaly NGS Genetic Test is to identify mutations or variants...
MRE11 Gene Microcephaly, MRE11A related NGS Genetic Test
The purpose of the MRE11A related NGS Genetic Test is to identify mutations in the MRE11 gene that c...
CEP152 Gene Microcephaly, autosomal recessive type 9 NGS Genetic Test
The purpose of the CEP152 Gene Microcephaly NGS Genetic Test is to identify mutations in the CEP152...
MECP2 Gene Rett syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the MECP2 gene for the diagnosis of Rett syndrome...
EMX2 Gene Schizencephaly NGS Genetic Test
To diagnose schizencephaly by identifying mutations in the EMX2 gene using NGS technology, providing...
SPRED1 Gene Neurofibromatosis type 1 -like syndrome NGS Genetic Test
To detect mutations in the SPRED1 gene for the diagnosis of Neurofibromatosis type 1-like syndrome (...
Common Neurological/Neuromuscular Diseases Gene Panel
To diagnose genetic causes of neurological and neuromuscular diseases, enable early intervention, as...
Congenital Myopathy Gene Panel
The purpose of the Congenital Myopathy Gene Panel test is to diagnose congenital myopathy by identif...
Huntington Disease (HD) Mutation Screening
The purpose of HD mutation screening is to detect the presence of expanded CAG repeats in the HTT ge...
HLA-DRB1*1501 Genotyping (Multiple Sclerosis)
The purpose of HLA-DRB1*1501 genotyping is to detect the presence of the HLA-DRB1*1501 gene variant,...
Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel
The purpose of this test is to identify genetic mutations responsible for Leigh Syndrome and Mitocho...
MLC1 Gene Mutation Analysis (Agrawal Mutation)
The purpose of MLC1 Gene Mutation Analysis is to diagnose mutations in the MLC1 gene, including the...
Microcephaly Gene Panel
To identify genetic mutations associated with microcephaly for accurate diagnosis, treatment plannin...
Muscular Dystrophy Gene Panel
To diagnose muscular dystrophy by identifying specific genetic mutations, guide treatment decisions,...
Spino Cerebral Ataxia (SCA - Single Form)
The purpose of this test is to diagnose Spino Cerebral Ataxia by detecting specific gene mutations a...
Spinal Muscular Atrophy Gene Panel
The purpose of the Spinal Muscular Atrophy Gene Panel is to diagnose SMA by identifying mutations in...
Spino Cerebral Ataxia (SCA Panel - 1, 2, 3, 6, 7, 10 & 12)
The purpose of the SCA Panel test is to diagnose specific types of Spinocerebellar Ataxia by detecti...
Reticulocyte Count Test
To confirm or rule out a clinical diagnosis of Rett syndrome by detecting pathogenic mutations in th...
SCA (Spinocerebellar Ataxia) Profile: Any 4 Markers Test
The purpose of the SCA Profile Any 4 Markers Test is to detect pathogenic repeat expansions in selec...
SCA (Spinocerebellar Ataxia): Extended Profile Test
The purpose of the SCA Extended Profile Test is to identify pathogenic repeat expansions in genes th...
SCA-1 (Spinocerebellar Ataxia): ATXN1 Gene Mutation Test
To confirm the clinical diagnosis of spinocerebellar ataxia type 1, to identify mutation carriers in...
SCA (Spinocerebellar Ataxia): Comprehensive Profile Test
The primary purpose of the SCA Comprehensive Profile is to provide a molecular diagnosis for patient...
SCA-11 (Spinocerebellar Ataxia): TTBK2 Gene Mutation Test
To detect a mutation in exon 12 of the TTBK2 gene in order to confirm or exclude the diagnosis of SC...
SCA-12 (Spinocerebellar Ataxia): PPP2R2B Gene Mutation Test
The purpose of this test is to detect a pathogenic CAG repeat expansion in the PPP2R2B gene. This re...
SCA-14 (Spinocerebellar Ataxia): PRKCG Gene Mutation Test
The purpose of the PRKCG gene mutation test is to identify a disease-causing mutation in the PRKCG g...
Spinal Muscular Atrophy (SMA) Mutation Detection Test
The primary purpose of the SMA Mutation Detection Test is to detect the common homozygous deletions...
Spino-Bulbar Muscular Atrophy Test
The purpose of the SBMA test is to detect pathogenic CAG repeat expansion in the AR gene to confirm...
Urea Cycle Disorder Panel Test
The purpose of the Urea Cycle Disorder Panel is to confirm or rule out a urea cycle disorder in pati...
ACO2 Gene Cerebellar-Retinal Degeneration, Infantile NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the ACO2 gene, conf...
ROBO3 Gene Gaze Palsy, Horizontal, with Progressive Scoliosis NGS Genetic Test
To detect disease-causing variants in the ROBO3 gene associated with horizontal gaze palsy with prog...
Amyotrophic Lateral Sclerosis (ALS) Panel NGS Genetic Test
This test is intended to detect pathogenic variants in genes associated with amyotrophic lateral scl...
Ataxia Panel NGS Genetic Test
The purpose of the Ataxia Panel NGS Genetic Test is to detect pathogenic genetic variants and repeat...
Ataxia Comprehensive Panel NGS Genetic Test
The purpose of the Ataxia Comprehensive Panel NGS Genetic Test is to detect pathogenic genetic varia...
NGSNeuro NGS Genetic Test
The primary purpose of the NGSNeuro NGS Genetic Test is to identify the underlying genetic cause of...
Intellectual Disability Panel NGS Genetic Test
The purpose of the Intellectual Disability Panel NGS Genetic Test is to identify pathogenic or likel...
Dementia Panel NGS Genetic Test
To identify inherited genetic causes of dementia, aid in the differential diagnosis, evaluate famili...
Dystonia Panel NGS Genetic Test
To detect disease-causing genetic variants that may explain inherited forms of dystonia. This inform...
Neuromuscular Panel NGS Genetic Test
To identify the genetic cause of neuromuscular disorders, confirm a suspected diagnosis, guide treat...
Epilepsy Panel NGS Genetic Test
The primary purpose of the Epilepsy Panel NGS Genetic Test is to detect pathogenic variants in genes...
Spastic Paraplegia Panel NGS Genetic Test
This test is used to identify inherited genetic causes of hereditary spastic paraplegia in patients...
GFAP Gene Alexander Disease NGS Genetic Test
To detect disease-causing mutations in the GFAP gene using NGS technology, thereby confirming a diag...
ADAR Gene Aicardi-Goutieres Syndrome Type 6 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ADAR gene that are associated wit...
SLC16A2 Gene Allan-Herndon-Dudley Syndrome NGS Genetic Test
This test is performed to identify pathogenic variants in the SLC16A2 gene in individuals with clini...
Parkinson Disease Panel NGS Genetic Test
The purpose of this test is to examine patient DNA for mutations in genes known to be associated wit...
ATRX Gene Alpha-Thalassemia/Mental Retardation Syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the ATRX gene that are associated with Alpha-thal...
ATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the ATP1A2 gene that are associated wit...
ATP1A3 Gene Alternating Hemiplegia of Childhood Type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ATP1A3 gene that cause alternatin...
NOS3 Gene Alzheimer Disease Type 1 NGS Genetic Test
The purpose of the NOS3 Gene Alzheimer Disease Type 1 NGS Genetic Test is to detect pathogenic mutat...
APP Gene Alzheimer Disease Type 1 NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the APP gene in indi...
APOE Gene Alzheimer Disease Type 2 NGS Genetic Test
The main purpose of this test is to determine an individual's APOE genotype and identify the presenc...
ADAM10 Gene Alzheimer Disease Type 18, Susceptibility to NGS Genetic Test
The purpose of this test is to identify clinically significant variants in the ADAM10 gene that are...
RTN3 Gene Alzheimers Disease, RTN3 Related NGS Genetic Test
The purpose of this NGS genetic test is to identify genetic variations in the RTN3 gene that may inf...
PSEN1 Gene Alzheimer Disease Type 3 NGS Genetic Test
To identify pathogenic variations in the PSEN1 gene using NGS, confirm or rule out a genetic cause o...
TARDBP Gene Amyotrophic Lateral Sclerosis Type 10 NGS Genetic Test
The primary purpose of this NGS genetic test is to detect sequence variants in the TARDBP gene that...
CHGB Gene Amyotrophic Lateral Sclerosis Risk Factor NGS Genetic Test
The purpose of this test is to evaluate the CHGB gene for sequence variants that may be associated w...
FIG4 Gene Amyotrophic Lateral Sclerosis Type 11 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the FIG4 gene associated wi...
GSN Gene Amyloidosis, Finnish Type NGS Genetic Test
The purpose of this test is to identify clinically significant sequence variants in the GSN gene. It...
SIGMAR1 Gene Amyotrophic Lateral Sclerosis Type 16 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SIGMAR1 gene associated...
OPTN Gene Amyotrophic Lateral Sclerosis Type 12 NGS Genetic Test
To identify pathogenic variants in the OPTN gene associated with Amyotrophic Lateral Sclerosis Type...
VCP Gene Amyotrophic Lateral Sclerosis Type 14 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the VCP gene associated w...
ALS2 Gene Amyotrophic Lateral Sclerosis Type 2, Juvenile NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the ALS2 gene that are as...
ST3GAL5 Gene Amish Infantile Epilepsy Syndrome NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the ST3GAL5 gene....
SOD1 Gene Amyotrophic Lateral Sclerosis Type 1 NGS Genetic Test
The primary purpose of this NGS genetic test is to detect disease-causing mutations in the SOD1 gene...
ANG Gene Amyotrophic Lateral Sclerosis Type 9 NGS Genetic Test
The purpose of the ANG Gene ALS Type 9 NGS Genetic Test is to identify pathogenic variants in the AN...
SETX Gene Amyotrophic Lateral Sclerosis Type 4 NGS Genetic Test
To detect pathogenic variants in the SETX gene associated with ALS Type 4, confirm the genetic cause...
MATR3 Gene Amyotrophic Lateral Sclerosis Type 21 NGS Genetic Test
The purpose of this NGS genetic test is to detect sequence variants in the MATR3 gene that are assoc...
PFN1 Gene Amyotrophic Lateral Sclerosis Type 18 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic and likely pathogenic variants in the P...
VAPB Gene Amyotrophic Lateral Sclerosis Type 8 NGS Genetic Test
To identify disease-causing variants in the VAPB gene associated with Amyotrophic Lateral Sclerosis...
FUS Gene Amyotrophic Lateral Sclerosis Type 6 NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the FUS gene, confirming or rul...
NEFH Gene Amyotrophic Lateral Sclerosis, Susceptibility to NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the NEFH gene that may increase susce...
SS18L1 Gene Amyotrophic Lateral Sclerosis, CREST Related NGS Genetic Test
To identify pathogenic or likely pathogenic variations in the SS18L1 gene that may contribute to amy...
TRPM7 Gene Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility to NGS Genetic Test
The purpose of this test is to identify clinically significant variants in the TRPM7 gene that may i...
UBE3A Gene Angelman Syndrome NGS Genetic Test
To confirm or rule out pathogenic variants in the UBE3A gene in individuals with clinical features o...
RABGGTA Gene Autism Spectrum Disorder NGS Genetic Test
The purpose of the RABGGTA gene NGS genetic test is to identify pathogenic mutations in the RABGGTA...
Chr. 15q11 Gene Angelman Syndrome NGS Genetic Test
The purpose of this NGS test is to identify pathogenic variants in the chromosome 15q11 region, espe...
VPS54 Gene Amyotrophic Lateral Sclerosis, VPS54 Related NGS Genetic Test
The purpose of this NGS test is to detect mutations in the VPS54 gene in individuals with clinical s...
MXRA5 Gene Autism Spectrum, MXRA5 Related NGS Genetic Test
The purpose of this NGS genetic test is to identify any pathogenic or likely pathogenic variants in...
GRM7 Gene Autism Spectrum/Hyperactivity/Bipolar Disorder, GRM7 Related NGS Genetic Test
The purpose of this test is to detect sequence variants in the GRM7 gene that may contribute to auti...
9-Sep Gene Amyotrophy Hereditary Neuralgic NGS Genetic Test
The purpose of this test is to confirm or exclude hereditary neuralgic amyotrophy by detecting patho...
NLGN4X Gene Autism Susceptibility, X-Linked Type 2 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify disease-causing mutations in the NLGN4X...
TMLHE Gene Autism Susceptibility, X-Linked Type 6 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the TMLHE gene that may increase susc...
NLGN3 Gene Autism Susceptibility, X-Linked Type 1 NGS Genetic Test
To identify clinically significant mutations in the NLGN3 gene using next-generation sequencing, sup...
SHANK2 Gene Autism Susceptibility, X-Linked Type 17 NGS Genetic Test
The purpose of this NGS genetic test is to detect sequence variants in the SHANK2 gene that may cont...
EFCAB13 Gene Autism, EFCAB13 Related NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the EFCAB13 gene that are ass...
PTCHD1 Gene Autism Susceptibility, X-Linked Type 4 NGS Genetic Test
The purpose of this NGS-based genetic test is to detect pathogenic mutations in the PTCHD1 gene asso...
CELF6 Gene Autism, CELF6 Related NGS Genetic Test
The purpose of the CELF6 gene autism NGS genetic test is to detect sequence variants in the CELF6 ge...
GYG2 Gene Autism, GYG2 Related NGS Genetic Test
The purpose of this test is to detect mutations in the GYG2 gene that may be associated with autism...
FCRL6 Gene Autism, FCRL6 Related NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the FCRL6 gene in individuals with autism or...
MBD1 Gene Autism, MBD1 Related NGS Genetic Test
To detect mutations in the MBD1 gene that may be associated with autism spectrum disorder and to sup...
SLC22A9 Gene Autism, SLC22A9 Related NGS Genetic Test
The purpose of this test is to detect clinically relevant variants in the SLC22A9 gene using NGS tec...
COL6A2 Gene Bethlem Myopathy NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the COL6A2 gene that are r...
COL12A1 Gene Bethlem Myopathy Type 2 NGS Genetic Test
The primary purpose of this test is to identify pathogenic mutations in the COL12A1 gene that cause...
COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the COL6A3 gene that cause Bethlem My...
MAOA Gene Brunner Syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the MAOA gene that confirm...
PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic Test
This test is intended to detect pathogenic variants in the PHF6 gene using next-generation sequencin...
CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy NGS Genetic Test
The primary purpose of this test is to detect clinically significant mutations in the CTDP1 gene tha...
ASPA Gene Canavan Disease NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the ASPA gene using Next Generat...
RYR1 Gene Central Core Disease NGS Genetic Test
The purpose of the RYR1 Gene Central Core Disease NGS Genetic Test is to confirm a clinical diagnosi...
ATP1A3 Gene CAPOS Syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify clinically significant variants in the ATP1A3 ge...
PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic Test
To confirm a clinical diagnosis of congenital central hypoventilation syndrome (CCHS) with or withou...
APP Gene Cerebral Amyloid Angiopathy, APP Related NGS Genetic Test
The purpose of this test is to identify mutations in the APP gene that are associated with cerebral...
ATP2A1 Gene Brody Myopathy NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the AT...
CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the CYP27A1 gene, confirming the diagno...
NSDHL Gene CHILD Syndrome NGS Genetic Test
To confirm the clinical suspicion of CHILD syndrome by detecting a pathogenic mutation in the NSDHL...
GAD1 Gene Cerebral Palsy Type 1, Spastic Quadriplegic NGS Genetic Test
To identify pathogenic variants in the GAD1 gene associated with cerebral palsy type 1, spastic quad...
CIZ1 Gene Cervical Dystonia NGS Genetic Test
The purpose of this test is to identify clinically relevant variants in the CIZ1 gene that may contr...
NKX2-1 Gene Chorea, Hereditary Benign NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the NKX2-1 gene...
VPS13A Gene Choreoacanthocytosis NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the VPS13A gene that cause choreoacan...
KANK1 Gene Cerebral Palsy Type 2, Spastic Quadriplegic NGS Genetic Test
The purpose of this test is to detect disease-associated variants in the KANK1 gene in individuals w...
DYNC1H1 Gene Charcot-Marie-Tooth Disease, Axonal Type 20 NGS Genetic Test
The purpose of this test is to identify a pathogenic DYNC1H1 gene variant in symptomatic patients an...
PMP22 Gene CMT1A NGS Genetic Test
The purpose of this NGS genetic test is to confirm or exclude CMT1A by detecting PMP22 gene duplicat...
LITAF Gene CMT1C NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the LITAF gene that cause Charcot-Mar...
MPZ Gene CMT1B NGS Genetic Test
This NGS genetic test is designed to detect pathogenic variants in the MPZ gene, providing a molecul...
AARS1 Gene CMT2N NGS Genetic Test
To identify disease-causing variants in the AARS1 gene associated with Charcot-Marie-Tooth disease t...
LRSAM1 Gene CMT2P NGS Genetic Test
The purpose of the LRSAM1 Gene CMT2P NGS Genetic Test is to confirm a clinical suspicion of Charcot-...
NDRG1 Gene CMT4D NGS Genetic Test
To detect pathogenic variants in the NDRG1 gene associated with Charcot-Marie-Tooth disease type 4D,...
MPZ Gene CMT4E NGS Genetic Test
The main purpose of this test is to detect mutations in the MPZ gene that cause CMT4E. It aids in co...
CTDP1 Gene CMT4, CTDP1 Related NGS Genetic Test
The purpose of this NGS test is to detect pathogenic or likely pathogenic sequence variants in the C...
EGR2 Gene CMT4E NGS Genetic Test
This NGS-based genetic test is intended to detect pathogenic variants in the EGR2 gene associated wi...
FGD4 Gene CMT4H NGS Genetic Test
The purpose of this test is to detect clinically significant mutations in the FGD4 gene and confirm...
PRX Gene CMT4F NGS Genetic Test
This test is performed to identify pathogenic or likely pathogenic variants in the PRX gene. It is u...
GNB4 Gene CMTDIF NGS Genetic Test
The primary purpose of the GNB4 Gene CMTDIF NGS Genetic Test is to identify pathogenic or likely pat...
GJB1 Gene CMTX1 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the GJB1 gene that cause Charcot-Mari...
HSPB8 Gene CMT2L NGS Genetic Test
The purpose of this NGS-based genetic test is to detect pathogenic variants in the HSPB8 gene, confi...
COX6A1 Gene CMTRID NGS Genetic Test
The primary purpose of this test is to detect pathogenic mutations in the COX6A1 gene to confirm a c...
AIFM1 Gene CMTX4 NGS Genetic Test
To detect pathogenic or likely pathogenic mutations in the AIFM1 gene associated with CMTX4, confirm...
PRPS1 Gene CMTX5 NGS Genetic Test
To confirm the diagnosis of CMTX5 by identifying pathogenic variants in the PRPS1 gene and to provid...
Gene CMT4J NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the FIG4 gene us...
TUBB3 Gene Cortical dysplasia, complex, with other brain malformations, type 1 NGS Genetic Test
To confirm a clinical diagnosis of TUBB3-associated cortical dysplasia type 1, identify the pathogen...
CFL1 Gene Corticobasal Degeneration, CFL1 related NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the CFL1 gene in in...
TUBB2A Gene Cortical dysplasia, complex, with other brain malformations, type 5 NGS Genetic Test
To detect pathogenic or likely pathogenic variants in the TUBB2A gene to confirm a diagnosis of cort...
CNTNAP2 Gene Cortical dysplasia-focal epilepsy syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the CNTNAP2 gene and c...
CAV3 Gene Creatine phosphokinase, elevated serum NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the CAV3 gene that cause elevated s...
SLC6A8 Gene Creatine deficiency syndrome X-linked NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the SLC6A8 gene to confirm or r...
IGBP1 Gene Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia NGS Genetic Test
To confirm or rule out a pathogenic variant in the IGBP1 gene in a person with clinical features sug...
PRNP Gene Creutzfeldt-Jakob disease NGS Genetic Test
This test uses Next-Generation Sequencing to identify disease-causing mutations in the PRNP gene ass...
TMCO1 Gene Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NGS Genetic Test
The purpose of the TMCO1 gene NGS genetic test is to identify pathogenic or likely pathogenic varian...
MT-CO2 Gene Cytochrome c oxidase 2 deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the MT-CO2 gene...
MPZ Gene Dejerine-Sottas disease NGS Genetic Test
The primary purpose of this test is to identify pathogenic mutations in the MPZ gene that cause Deje...
GJB1 Gene Dejerine-Sottas disease NGS Genetic Test
The primary purpose of this NGS genetic test is to identify sequence variants in the GJB1 gene that...
ITM2B Gene Dementia, familial, British type NGS Genetic Test
To confirm the clinical diagnosis of familial British dementia and identify the underlying genetic c...
LAMP2 Gene Danon disease NGS Genetic Test
The purpose of the LAMP2 Gene Danon Disease NGS Genetic Test is to detect pathogenic variants in the...
EGR2 Gene Dejerine-Sottas disease NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the EGR2 gene that cause Dejerine-So...
GRN Gene Dementia, frontotemporal NGS Genetic Test
The purpose of the GRN gene frontotemporal NGS genetic test is to identify pathogenic variants in th...
MAPT Gene Dementia, frontotemporal NGS Genetic Test
This test is used to detect pathogenic variants in the MAPT gene that are associated with frontotemp...
PMP22 Gene Dejerine-Sottas disease NGS Genetic Test
To detect mutations in the PMP22 gene that cause Dejerine-Sottas disease, and to support clinicians...
TARDBP Gene Dementia, frontotemporal NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the TARDBP gene, wh...
GNAQ Gene Developmental delay, GNAQ related NGS Genetic Test
The purpose of this test is to detect mutations in the GNAQ gene that may be associated with develop...
SLC1A4 Gene Developmental delay and microcephaly, SLC1A4 related NGS Genetic Test
To detect clinically significant variants in the SLC1A4 gene that may explain developmental delay, m...
ATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic Test
The purpose of this test is to detect pathogenic variants and CAG repeat expansions in the ATN1 gene...
YARS1 Gene DI-CMTC NGS Genetic Test
The purpose of this test is to detect clinically significant variants in the YARS1 gene that cause D...
MPZ Gene DI-CMTD NGS Genetic Test
The primary purpose of the MPZ Gene DI-CMTD NGS Genetic Test is to detect disease-causing variants i...
SCN9A Gene Dravet syndrome, modifier of NGS Genetic Test
The purpose of this SCN9A gene modifier NGS genetic test is to identify genetic alterations in the S...
FRRS1L Gene Dysautonomia, FRRS1L-related NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the FRRS1L gene using next-gene...
KMT2C Gene Developmental delay, KMT2C related NGS Genetic Test
The KMT2C-related NGS Genetic Test is performed to identify pathogenic variants in the KMT2C gene th...
ADCY5 Gene Dyskinesia, familial, with facial myokymia NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the ADCY5 gene in indi...
SCN2A Gene Dravet syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SCN2A gene associated with Dravet...
ACTB Gene Dystonia juvenile-onset NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the ACTB gene that are as...
PDE10A Gene Dyskinesia, limb and orofacial, infantile-onset NGS Genetic Test
To identify pathogenic variants in the PDE10A gene that may cause infantile-onset limb and orofacial...
PCDH11X Gene Dyslexia NGS Genetic Test
The purpose of this NGS genetic test is to analyze the PCDH11X gene and identify mutations or variat...
GABRG2 Gene Dravet syndrome NGS Genetic Test
To detect disease-causing variants in the GABRG2 gene in suspected Dravet syndrome/SMEI, confirm a c...
TUBB4A Gene DYT4 NGS Genetic Test
The purpose of this test is to confirm or rule out a clinical diagnosis of DYT4 dystonia by identify...
THAP1 Gene DYT6 NGS Genetic Test
The purpose of the THAP1 Gene DYT6 NGS Genetic Test is to confirm or exclude DYT6 dystonia by identi...
KCNB1 Gene Early infantile epileptic encephalopathy type 26 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the KCNB1 gene that are res...
ARX Gene Early infantile epileptic encephalopathy type 1 NGS Genetic Test
The primary purpose of this NGS genetic test is to detect sequence variants in the ARX gene and conf...
GCH1 Gene DYT5A NGS Genetic Test
To identify pathogenic variants in the GCH1 gene associated with DYT5A/Segawa Syndrome and to suppor...
DNM1 Gene Early infantile epileptic encephalopathy type 31 NGS Genetic Test
To detect pathogenic mutations in the DNM1 gene associated with Early Infantile Epileptic Encephalop...
TAF1 Gene DYT3 NGS Genetic Test
To confirm the clinical diagnosis of DYT3 (TAF1-related dystonia-parkinsonism) by detecting pathogen...
SCN2A Gene Early infantile epileptic encephalopathy type 11 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
PNKP Gene Early infantile epileptic encephalopathy type 10 NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the PNKP gene that are responsi...
KCNA2 Gene Early infantile epileptic encephalopathy type 32 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the KCNA2 gene i...
GUF1 Gene Early infantile epileptic encephalopathy type 40 NGS Genetic Test
The purpose of the GUF1 Gene EIEE Type 40 NGS test is to confirm or rule out a genetic mutation in t...
GRIN2D Gene Early infantile epileptic encephalopathy type 46 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the GRIN2D gene that cause Early Infa...
EEF1A2 Gene Early infantile epileptic encephalopathy type 33 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the EEF1A2 gene...
SLC2A1 Gene DYT8 NGS Genetic Test
The primary purpose of the SLC2A1 Gene DYT8 NGS Genetic Test is to confirm or exclude a molecular di...
STXBP1 Gene Early infantile epileptic encephalopathy type 4 NGS Genetic Test
To detect pathogenic mutations in the STXBP1 gene that cause early infantile epileptic encephalopath...
FGF12 Gene Early infantile epileptic encephalopathy type 47 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the FGF12 gene that cause...
GABRB1 Gene Early infantile epileptic encephalopathy type 45 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the GABRB1 gene that are associated w...
CUX2 Gene Early infantile epileptic encephalopathy type 67 NGS Genetic Test
The primary purpose of the CUX2 gene NGS genetic test is to confirm or rule out a molecular diagnosi...
SPTAN1 Gene Early infantile epileptic encephalopathy type 5 NGS Genetic Test
To detect pathogenic variants in the SPTAN1 gene associated with Early Infantile Epileptic Encephalo...
KCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing sequence variants in the KCNQ2 gen...
EMD Gene Emery-Dreifuss muscular dystrophy type 1 NGS Genetic Test
This is a single-gene NGS test to identify pathogenic variants in EMD associated with Emery-Dreifuss...
SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic Test
This test is intended to confirm a clinical diagnosis of Emery-Dreifuss muscular dystrophy type 4 by...
SCN1A Gene Early infantile epileptic encephalopathy type 6 NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the SCN1A gene and p...
ARHGEF9 Gene Early infantile epileptic encephalopathy type 8 NGS Genetic Test
The purpose of this test is to confirm or exclude a molecular diagnosis of Early Infantile Epileptic...
FHL1 Gene Emery-Dreifuss muscular dystrophy type 6 NGS Genetic Test
The primary purpose of this test is to detect disease-causing mutations in the FHL1 gene associated...
PCDH19 Gene Early infantile epileptic encephalopathy type 9 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
SYNE2 Gene Emery-Dreifuss muscular dystrophy type 5 NGS Genetic Test
The purpose of this test is to confirm or exclude SYNE2-related Emery-Dreifuss muscular dystrophy ty...
LMNA Gene Emery-Dreifuss muscular dystrophy type 2 NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the LMNA gene in individuals with clinical f...
DNM1L Gene Encephalopathy lethal, due to defective mitochondrial peroxisomal fission NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the DNM1L gene in individuals su...
SLC19A3 Gene Encephalopathy thiamine-responsive NGS Genetic Test
To detect mutations in the SLC19A3 gene that cause thiamine-responsive encephalopathy, enabling earl...
BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm or rule out a clinical diagnosis of BSCL2...
MECP2 Gene Encephalopathy neonatal severe NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the MECP2 gene, aid...
TRAF3 Gene Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 NGS Genetic Test
To identify pathogenic variants in the TRAF3 gene associated with acute, infection-induced (herpes-s...
SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the SERPINI1 gene associ...
RANBP2 Gene Encephalopathy, acute, necrotizing, type 1 NGS Genetic Test
The purpose is to detect disease-associated variants in the RANBP2 gene in patients with clinical fe...
GRIN2A Gene Epilepsy with neurodevelopmental defects NGS Genetic Test
The purpose of this test is to detect mutations in the GRIN2A gene that are associated with epilepsy...
COLQ Gene Endplate acetylcholinesterase deficiency NGS Genetic Test
The purpose of this test is to confirm or exclude a genetic cause of endplate acetylcholinesterase d...
GABRG2 Gene Epilepsy, childhood absence type 2 NGS Genetic Test
To detect pathogenic variants in the GABRG2 gene associated with childhood absence epilepsy type 2,...
CACNA1H Gene Epilepsy, childhood absence type 6, susceptibility to NGS Genetic Test
The purpose of the CACNA1H gene NGS test is to identify disease-causing variants in the CACNA1H gene...
PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the PLEC gene that are associated...
GABRA1 Gene Epilepsy, childhood absence type 4, susceptibility to NGS Genetic Test
The purpose of this NGS genetic test is to detect sequence variants in the GABRA1 gene that may pred...
COX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency NGS Genetic Test
The primary purpose of this NGS genetic test is to identify pathogenic mutations in the COX10 gene,...
GABRB3 Gene Epilepsy, childhood absence type 5 NGS Genetic Test
The purpose of this NGS test is to identify pathogenic or likely pathogenic variants in the GABRB3 g...
RELN Gene Epilepsy, familial temporal lobe type 7 NGS Genetic Test
The purpose of this test is to confirm or rule out the presence of disease-causing mutations in the...
DEPDC5 Gene Epilepsy, familial focal with variable foci NGS Genetic Test
The purpose of this NGS genetic test is to identify clinically significant sequence variants in the...
CPA6 Gene Epilepsy, familial temporal lobe type 5 NGS Genetic Test
The primary purpose of this NGS test is to identify pathogenic or likely pathogenic variants in the...
SCN3A Gene Epilepsy, focal, SCN3A related NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SCN3A gene associated with focal...
GABRD Gene Epilepsy, idiopathic generalized type 10 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the GABRD gene that are a...
SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome NGS Genetic Test
To detect pathogenic variants in the SPATA5 gene that cause a rare autosomal recessive syndrome with...
LGI1 Gene Epilepsy, familial temporal lobe type 1 NGS Genetic Test
The purpose of this test is to identify a pathogenic variant in the LGI1 gene in a person with clini...
CLCN2 Gene Epilepsy, idiopathic generalized type 11 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the CLCN2 gene that cause idiopathic...
SLC2A1 Gene Epilepsy, idiopathic generalized type 12 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the SLC2A1 gene that cause idiopathic...
HCN2 Gene Epilepsy, HCN2 related NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the HCN2 gene, confirm...
CHRNA4 Gene Epilepsy, nocturnal frontal lobe type 1 NGS Genetic Test
To detect mutations in the CHRNA4 gene associated with Nocturnal Frontal Lobe Epilepsy Type 1, confi...
KCNT1 Gene Epilepsy, nocturnal frontal lobe NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the KCNT1 gene in in...
SCARB2 Gene Epilepsy, progressive myoclonic type 4, with or without renal failure NGS Genetic Test
To detect pathogenic mutations in the SCARB2 gene to confirm a diagnosis of progressive myoclonic ep...
CHRNB2 Gene Epilepsy, nocturnal frontal lobe type 3 NGS Genetic Test
To identify pathogenic variants in the CHRNB2 gene in individuals with clinical features suggestive...
EFHC1 Gene Epilepsy, juvenile absence type 1 NGS Genetic Test
The EFHC1 gene NGS genetic test is used to detect disease-causing variants in the EFHC1 gene in indi...
SYN1 Gene Epilepsy, X-linked, with learning disabilities and behavior disorders NGS Genetic Test
The purpose of this NGS-based genetic test is to detect pathogenic variants in the SYN1 gene associa...
CHD2 Gene Epileptic encephalopathy, childhood-onset NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the CHD2 gene that may caus...
MAPK10 Gene Epileptic encephalopathy, Lennox-Gastaut type NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing pathogenic or likely pathogenic...
PRICKLE2 Gene Epilepsy, progressive myoclonic type 5 NGS Genetic Test
To identify pathogenic variants in the PRICKLE2 gene using targeted NGS and to confirm the genetic d...
CHRNA2 Gene Epilepsy, nocturnal frontal lobe type 4 NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the CHRNA2 gene in people with clinical susp...
KCNC1 Gene Epilepsy, progressive myoclonic type 7 NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the KCNC1 gene in sy...
KCNA1 Gene Episodic ataxia type 1 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify clinically significant variants in the K...
SLC1A3 Gene Episodic ataxia type 6 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the SLC1A3 gene th...
CACNB4 Gene Episodic ataxia type 5 NGS Genetic Test
This NGS-based genetic test is performed to identify disease-causing mutations in the CACNB4 gene, w...
CACNA1A Gene Episodic ataxia type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the CACNA1A gene that cause Episodic...
SCN10A Gene Episodic pain syndrome type 2, familial NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SCN10A gene that are as...
ROBO3 Gene Gaze palsy, horizontal, with progressive scoliosis NGS Genetic Test
This test is performed to identify pathogenic variants in the ROBO3 gene that cause Horizontal Gaze...
SCN1A Gene Generalized epilepsy with febrile seizures plus type 2 NGS Genetic Test
The purpose of the SCN1A gene NGS test is to identify pathogenic mutations in the SCN1A gene that ca...
PRNP Gene Gerstmann-Straussler disease NGS Genetic Test
The purpose is to detect pathogenic variants in the PRNP gene associated with Gerstmann-Straussler d...
GAN Gene Giant axonal neuropathy type 1 NGS Genetic Test
To detect mutations in the GAN gene using NGS, supporting the clinical diagnosis of Giant Axonal Neu...
ITPR1 Gene Gillespie syndrome NGS Genetic Test
To confirm a clinical diagnosis of Gillespie syndrome by identifying pathogenic variants in the ITPR...
AMT Gene Glycine encephalopathy NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the AMT gene that are...
SLC2A1 Gene GLUT1 deficiency syndrome type 1 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the SLC2A1 gene. Confirmatory ge...
MGAT2 Gene Glycosylation disorde type 2A NGS Genetic Test
To detect pathogenic variants in the MGAT2 gene that cause Congenital Disorder of Glycosylation Type...
GCSH Gene Glycine encephalopathy NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the GCSH gene to confirm or rule out gl...
GABRG2 Gene Generalized epilepsy with febrile seizures plus type 3 NGS Genetic Test
To detect pathogenic variants in the GABRG2 gene in individuals with clinical features of generalize...
SLC35C1 Gene Glycosylation disorde type 2C NGS Genetic Test
This test is performed to confirm a clinical suspicion of SLC35C1-related congenital disorder of gly...
DPM1 Gene Glycosylation disorder type 1E NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the DPM1 gene to confirm th...
ALG6 Gene Glycosylation disorder type 1C NGS Genetic Test
This test is ordered to confirm or exclude a diagnosis of ALG6 gene glycosylation disorder type 1C i...
DOLK Gene Glycosylation disorder type 1M NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the DOLK gene that cause glycosylation...
DPAGT1 Gene Glycosylation disorder type 1J NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of congenital disorder of glycosylation...
RAB27A Gene Griscelli syndrome type 2 NGS Genetic Test
To confirm a clinical diagnosis of Griscelli syndrome type 2 and identify pathogenic variants in the...
COG1 Gene Glycosylation disorder type 2G NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the COG1 gene that cause Glycosylatio...
SLC35A1 Gene Glycosylation disorder type 2F NGS Genetic Test
The primary purpose is to detect disease-causing variants in the SLC35A1 gene to establish a molecul...
GLB1 Gene GM1-gangliosidosis NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the GLB1 gene that lead to GM1 gan...
B4GALT1 Gene Glycosylation disorder type 2D NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the B4GALT1 gene tha...
TTN Gene Hereditary myopathy with early respiratory failure NGS Genetic Test
To confirm or exclude mutations in the TTN gene associated with Hereditary Myopathy with Early Respi...
FLNA Gene Heterotopia, periventricular, ED variant NGS Genetic Test
The primary purpose of this FLNA gene NGS test is to detect disease-causing pathogenic variants in F...
RNF39 Gene Hippocampal longterm potentiation, RFN39 related NGS Genetic Test
The purpose of this test is to identify, in individuals with appropriate clinical symptoms or family...
DKC1 Gene Hoyeraal-Hreidarsson syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the DKC1 gene, confirm a cl...
COG8 Gene Glycosylation disorder type 2H NGS Genetic Test
The purpose of this test is to detect mutations in the COG8 gene using next-generation sequencing to...
WNK1 Gene HSAN2A NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the WNK1 gene that cause HSAN2A. It is...
RNF216 Gene Gordon Holmes Syndrome NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of Gordon Holmes syndrome by ide...
ELP1 Gene HSAN3 NGS Genetic Test
The primary purpose of the ELP1 gene HSAN3 NGS Genetic Test is to identify mutations in the ELP1 gen...
TFG Gene Hereditary motor and sensory neuropathy, Okinawa type NGS Genetic Test
To detect pathogenic variants in the TFG gene associated with Hereditary Motor and Sensory Neuropath...
NTRK1 Gene HSAN4 NGS Genetic Test
To detect pathogenic mutations in the NTRK1 gene that cause Hereditary Sensory and Autonomic Neuropa...
PRDM12 Gene HSAN8 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the PRDM12 gene that are associa...
HTT Gene Huntington disease NGS Genetic Test
To detect CAG trinucleotide repeat expansion in the HTT gene for diagnosis and predictive testing of...
ZDHHC17 Gene Huntington disease, ZDHHC17 related NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic sequence variants in the ZDH...
JPH3 Gene Huntington disease-like type 2 NGS Genetic Test
To detect pathogenic variants in the JPH3 gene, confirming the diagnosis of Huntington disease-like...
PRNP Gene Huntington disease-like type 1 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the PRNP gene to confirm a...
L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic Test
The purpose of the L1CAM gene NGS genetic test is to identify pathogenic variants in the L1CAM gene...
NGF Gene HSAN5 NGS Genetic Test
The test aims to identify mutations in the NGF gene that are associated with HSAN5, aiding in defini...
SLC6A5 Gene Hyperekplexia NGS Genetic Test
The SLC6A5 gene NGS test is performed to identify disease-causing mutations in individuals with clin...
ARX Gene Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the ARX gene associated with Hydranence...
MPDZ Gene Hydrocephalus, nonsyndromic, autosomal recessive type 2 NGS Genetic Test
To detect pathogenic variants in the MPDZ gene associated with autosomal recessive nonsyndromic hydr...
GLRB Gene Hyperekplexia NGS Genetic Test
This test is intended to identify pathogenic variants in the GLRB gene, which encodes the glycine re...
GLRA1 Gene Hyperekplexia NGS Genetic Test
To confirm the clinical diagnosis of hyperekplexia by detecting pathogenic variants in the GLRA1 gen...
ARHGEF9 Gene Hyperekplexia, EIEE8 related NGS Genetic Test
To confirm or exclude a pathogenic variant in the ARHGEF9 gene in a patient with clinical features s...
GNE Gene Inclusion body myopathy NGS Genetic Test
The primary purpose of this NGS genetic test is to detect pathogenic mutations in the GNE gene that...
CCDC88C Gene Hydrocephalus, nonsyndromic, autosomal recessive type 1 NGS Genetic Test
To detect pathogenic sequence variants in the CCDC88C gene to confirm a genetic diagnosis of nonsynd...
SCN4A Gene Hyperkalemic periodic paralysis NGS Genetic Test
To identify disease-causing pathogenic variants in the SCN4A gene and confirm a clinical diagnosis o...
CACNA1S Gene Hypokalemic periodic paralysis type 1 NGS Genetic Test
To identify pathogenic variants in the CACNA1S gene that cause hypokalemic periodic paralysis type 1...
CIC Gene Intellectual disability nonsyndromic, CIC related NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
PLA2G6 Gene Infantile neuroaxonal dystrophy type 1 NGS Genetic Test
The purpose of this test is to confirm or rule out Infantile Neuroaxonal Dystrophy type 1 caused by...
DARS Gene Hypomyelination with brainstem and spinal cord involvement and leg spasticity NGS Genetic Test
This test is intended to detect clinically significant variants in the DARS gene in patients with su...
MYH2 Gene Inclusion body myopathy NGS Genetic Test
The test is used to identify disease-causing variants in the MYH2 gene and to support the clinical d...
CC2D2A Gene Joubert syndrome type 9 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the CC2D2A gene...
ARL13B Gene Joubert syndrome type 8 NGS Genetic Test
The purpose of this test is to identify disease-causing sequence variants in the ARL13B gene, which...
EXOSC8 Gene Joubert syndrome, EXOSC8 related NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the EXOSC8 gene, which is...
FAM111A Gene Kenny-Caffey syndrome type 2 NGS Genetic Test
To detect pathogenic variants in the FAM111A gene associated with Kenny-Caffey syndrome type 2, conf...
RYR1 Gene King-Denborough syndrome NGS Genetic Test
The purpose of this test is to detect disease-causing mutations in the RYR1 gene associated with Kin...
EXOC8 Gene Joubert syndrome, EXOC8 related NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic sequence variants in the EXOC8...
KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test
The purpose of this test is to confirm or exclude disease-causing mutations in the KDM6A gene in ind...
BCS1L Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the BCS1L gene assoc...
NDUFA10 Gene Leigh syndrome NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm or rule out a diagnosis of NDUFA10-relate...
ROGDI Gene Kohlschutter Tonz syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the ROGDI gene responsible...
NDUFA2 Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
COX15 Gene Leigh syndrome NGS Genetic Test
The purpose of this test is to identify disease-causing pathogenic variants in the COX15 gene using...
NDUFAF1 Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the ND...
NDUFA9 Gene Leigh syndrome NGS Genetic Test
To detect mutations in the NDUFA9 gene that cause Leigh syndrome and confirm the clinical diagnosis,...
NDUFAF2 Gene Leigh syndrome NGS Genetic Test
A definitive genetic diagnosis helps clinicians confirm NDUFAF2-related Leigh syndrome, provide targ...
NDUFS7 Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the NDUFS7 gene that cau...
NDUFAF3 Gene Leigh syndrome NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the NDUFAF3 gene that cause Leigh syndrome....
NDUFS4 Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the NDUFS4 gene and other...
NDUFAF6 Gene Leigh syndrome NGS Genetic Test
This NGS genetic test is used to identify disease-causing variants in the NDUFAF6 gene, confirm a cl...
NDUFS3 Gene Leigh syndrome NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the NDUFS3 gene that cause Le...
NDUFS8 Gene Leigh syndrome NGS Genetic Test
To identify pathogenic variants in the NDUFS8 gene associated with Leigh syndrome and guide clinical...
MT-ND5 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
The purpose of the MT-ND5 NGS Genetic Test is to confirm or rule out the presence of pathogenic muta...
MT-ND3 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
The purpose of the MT-ND3 gene NGS genetic test is to detect pathogenic variants in the MT-ND3 gene...
FOXRED1 Gene Leigh syndrome NGS Genetic Test
Targeted NGS analysis of the FOXRED1 gene to identify pathogenic variants associated with Leigh synd...
TACO1 Gene Leigh syndrome due to the mitochondrial complex IV deficiency NGS Genetic Test
The purpose of this test is to detect mutations in the TACO1 gene associated with Leigh syndrome due...
PC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic Test
To identify pathogenic variants in the PC gene associated with pyruvate carboxylase deficiency, conf...
GJC2 Gene Leukodystrophy hypomyelinating NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm the clinical diagnosis of hypomyelinating...
AIMP1 Gene Leukodystrophy hypomyelinating type 3 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the AIMP1 gene to confirm a diagnosis o...
PDHA1 Gene Leigh syndrome, X-linked NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the PDHA1 gene associated with X-linked...
HSPD1 Gene Leukodystrophy hypomyelinating type 4 NGS Genetic Test
The purpose of this test is to confirm or exclude a diagnosis of leukodystrophy hypomyelinating type...
HPRT1 Gene Lesch-Nyham syndrome NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the HPRT1 gene, confirm a clinical diag...
LMNB1 Gene Leukodystrophy demyelinating adult-onset, autosomal dominant NGS Genetic Test
The purpose of this test is to confirm or rule out a molecular diagnosis of LMNB1-related adult-onse...
TUBB4A Gene Leukodystrophy hypomyelinating type 6 NGS Genetic Test
To confirm the diagnosis of hypomyelinating leukodystrophy type 6 by identifying pathogenic variants...
POLR3B Gene Leukodystrophy hypomyelinating type 8 NGS Genetic Test
The purpose of this test is to detect pathogenic and likely pathogenic variants in the POLR3B gene i...
POLR3A Gene Leukodystrophy hypomyelinating type 7 NGS Genetic Test
The purpose of this test is to sequence the POLR3A gene and identify clinically significant variants...
SGCB Gene Limb-girdle muscular dystrophy, autosomal recessive type 2E NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SGCB gene that cause LGMD2E, ther...
DYSF Gene Limb-girdle muscular dystrophy, autosomal recessive type 2B NGS Genetic Test
To confirm the clinical diagnosis of limb-girdle muscular dystrophy type 2B (LGMD2B) by identifying...
RARS Gene Leukodystrophy hypomyelinating type 9 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the RARS1 gene t...
TCAP Gene Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the TCAP gene, confirming the diagnosi...
DARS2 Gene Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the DARS2 gene in individuals wi...
AARS2 Gene Leukoencephalopathy, progressive, with ovarian failure NGS Genetic Test
To identify pathogenic variants in the AARS2 gene in symptomatic patients using next-generation sequ...
TTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2J NGS Genetic Test
This test is used to confirm a clinical diagnosis of limb-girdle muscular dystrophy autosomal recess...
FKRP Gene Limb-girdle muscular dystrophy, autosomal recessive type 2I NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the FKRP gene that cause limb-girdle...
POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2K NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the POMT1 gene, conf...
TRIM32 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2H NGS Genetic Test
The primary purpose of the TRIM32 gene NGS genetic test is to identify pathogenic mutations in the T...
FKTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2M NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the FKTN gene assoc...
POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the POMT1 gene that are associat...
TRAPPC11 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2S NGS Genetic Test
To identify pathogenic variants in the TRAPPC11 gene that cause Limb-girdle muscular dystrophy, auto...
ANO5 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2L NGS Genetic Test
The primary purpose of this test is to identify bi-allelic pathogenic variants in the ANO5 gene to c...
OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic Test
The purpose of the OCRL gene NGS genetic test is to identify mutations in the OCRL gene that cause L...
DCX Gene Lissencephaly/Subcortical laminal heteropia, X-linked NGS Genetic Test
To detect mutations in the DCX gene for the diagnosis of X-linked lissencephaly and subcortical band...
MLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts NGS Genetic Test
To detect pathogenic variants in the MLC1 gene and confirm a molecular diagnosis of Megalencephalic...
KDM5C Gene Mental retardation X-linked, syndromic, Claes-Jensen type NGS Genetic Test
To detect pathogenic sequence variants in the KDM5C gene associated with X-linked syndromic mental r...
MBD5 Gene Mental retardation, autosomal dominant type 1 NGS Genetic Test
To detect pathogenic mutations in the MBD5 gene for confirming a diagnosis of autosomal dominant typ...
SMARCA1 Gene Mental retardation X-linked, SMARCA1 related NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SMARCA1 gene associated...
EPB41L1 Gene Mental retardation, autosomal dominant type 11 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify pathogenic variants in the EPB41L1 gene...
HEPACAM Gene Megalencephalic leukoencephalopathy with subcortical cysts 2A NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the HEPACAM gene, confirming a diagn...
ARID1A Gene Mental retardation, autosomal dominant type 14 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the ARID1A gene associated with Menta...
DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the DYNC1H1 gene associated with Mental...
ARID1B Gene Mental retardation, autosomal dominant type 12 NGS Genetic Test
The purpose of this test is to detect pathogenic sequence variants in the ARID1B gene using next-gen...
SMARCA4 Gene Mental retardation, autosomal dominant type 16 NGS Genetic Test
To identify pathogenic variants in the SMARCA4 gene associated with autosomal dominant mental retard...
TRAPPC9 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the TR...
PACS1 Gene Mental retardation, autosomal dominant type 17 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the PACS1 gene to confirm a...
CTNNB1 Gene Mental retardation, autosomal dominant type 19 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify pathogenic mutations in the CTNNB1 gene...
MEF2C Gene Mental retardation, autosomal dominant type 20 NGS Genetic Test
To detect mutations in the MEF2C gene associated with autosomal dominant mental retardation type 20,...
DOCK8 Gene Mental retardation, autosomal dominant type 2 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the DOCK8 gene in individua...
DEAF1 Gene Mental retardation, autosomal dominant type 24 NGS Genetic Test
The purpose of this DEAF1 gene NGS genetic test is to identify disease-causing mutations in the DEAF...
CDH15 Gene Mental retardation, autosomal dominant type 3 NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the CDH15 gene in in...
POGZ Gene Mental retardation, autosomal dominant type 37 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the POGZ gene to confirm a...
SETD5 Gene Mental retardation, autosomal dominant type 23 NGS Genetic Test
The purpose of this NGS test is to detect pathogenic variants in the SETD5 gene and confirm a molecu...
AHDC1 Gene Mental retardation, autosomal dominant type 25 NGS Genetic Test
The purpose of this test is to detect pathogenic and likely pathogenic variants in the AHDC1 gene th...
SOX11 Gene Mental retardation, autosomal dominant type 27 NGS Genetic Test
This test confirms or excludes a diagnosis of SOX11-related autosomal dominant intellectual disabili...
SYNGAP1 Gene Mental retardation, autosomal dominant type 5 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SYNGAP1 gene that cause...
PURA Gene Mental retardation, autosomal dominant type 31 NGS Genetic Test
To detect pathogenic or likely pathogenic variants in the PURA gene and support the clinical diagnos...
ADNP Gene Mental retardation, autosomal dominant type 28 NGS Genetic Test
The purpose of the ADNP gene NGS genetic test is to detect a disease-causing variant in the ADNP gen...
GRIN2B Gene Mental retardation, autosomal dominant type 6 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the GR...
DYRK1A Gene Mental retardation, autosomal dominant type 7 NGS Genetic Test
This test is performed to identify pathogenic or likely pathogenic variants in the DYRK1A gene assoc...
GRIN1 Gene Mental retardation, autosomal dominant type 8 NGS Genetic Test
To detect disease-causing variants in the GRIN1 gene by Next-Generation Sequencing in individuals wi...
KIF1A Gene Mental retardation, autosomal dominant type 9 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the KIF1A gene that are a...
ST3GAL3 Gene Mental retardation, autosomal recessive type 12 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ST3GAL3 gene that cause autosomal...
PRSS12 Gene Mental retardation, autosomal recessive type 1 NGS Genetic Test
To detect disease-causing variants in the PRSS12 gene that are associated with autosomal recessive t...
LINS1 Gene Mental retardation, autosomal recessive type 27 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the LINS1 gene, which are linked to...
CRBN Gene Mental retardation, autosomal recessive type 2 NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the CRBN gene, confirm...
MAN1B1 Gene Mental retardation, autosomal recessive type 15 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MAN1B1 gene and to support the cl...
CC2D1A Gene Mental retardation, autosomal recessive type 3 NGS Genetic Test
To detect pathogenic or likely pathogenic variants in the CC2D1A gene in individuals with intellectu...
HERC2 Gene Mental retardation, autosomal recessive type 38 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the HERC2 gene that caus...
ADAT3 Gene Mental retardation, autosomal recessive type 36 NGS Genetic Test
To confirm the clinical diagnosis of ADAT3-related autosomal recessive intellectual disability type...
TECR Gene Mental retardation, autosomal recessive type 14 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the TECR gene and confirm t...
ANK3 Gene Mental retardation, autosomal recessive type 37 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ANK3 gene and confirm whether the...
TTI2 Gene Mental retardation, autosomal recessive type 39 NGS Genetic Test
To identify pathogenic sequence variants in the TTI2 gene that cause autosomal recessive intellectua...
KPTN Gene Mental retardation, autosomal recessive type 41 NGS Genetic Test
To detect mutations in the KPTN gene associated with autosomal recessive mental retardation type 41,...
TAF2 Gene Mental retardation, autosomal recessive type 40 NGS Genetic Test
The primary purpose of this test is to look for disease-causing variants in the TAF2 gene in an indi...
PGAP1 Gene Mental retardation, autosomal recessive type 42 NGS Genetic Test
The primary purpose of this NGS test is to detect disease-causing variants in the PGAP1 gene to conf...
ARX Gene Mental retardation, X-linked type 29 NGS Genetic Test
To identify pathogenic variants in the ARX gene that cause X-linked mental retardation type 29 and t...
NDST1 Gene Mental retardation, autosomal recessive type 46 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the NDST1 gene in individuals with cl...
RPS6KA3 Gene Mental retardation, X-linked type 19 NGS Genetic Test
The primary purpose is to identify pathogenic variants in the RPS6KA3 gene that confirm or exclude a...
HCFC1 Gene Mental retardation, X-linked type 3 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the HCFC1 gene in individuals suspected...
PAK3 Gene Mental retardation, X-linked type 30 NGS Genetic Test
To identify pathogenic variants in PAK3 and confirm the molecular diagnosis of X-linked type 30 inte...
IL1RAPL1 Gene Mental retardation, X-linked type 21 NGS Genetic Test
To confirm or rule out pathogenic variants in the IL1RAPL1 gene in individuals showing clinical sign...
GDI1 Gene Mental retardation, X-linked type 41 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the GDI1 gene, confirm a c...
FTSJ1 Gene Mental retardation, X-linked type 44 NGS Genetic Test
To detect pathogenic variants in the FTSJ1 gene associated with Mental Retardation, X-linked type 44...
CLIC2 Gene Mental retardation, X-linked type 32 NGS Genetic Test
The purpose of this CLIC2 gene mental retardation, X-linked type 32 NGS genetic test is to identify...
AP1S2 Gene Mental retardation, X-linked type 59 NGS Genetic Test
This test is intended to confirm a clinical diagnosis of AP1S2-related X-linked mental retardation t...
ARHGEF6 Gene Mental retardation, X-linked type 46 NGS Genetic Test
To detect mutations in the ARHGEF6 gene that cause X-linked mental retardation type 46. This test he...
TSPAN7 Gene Mental retardation, X-linked type 58 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the TSPAN7 gene...
RAB39B Gene Mental retardation, X-linked type 72 NGS Genetic Test
To confirm the clinical diagnosis of Mental Retardation, X-linked Type 72 (MRX72) caused by mutation...
ACSL4 Gene Mental retardation, X-linked type 63 NGS Genetic Test
To detect pathogenic variants in the ACSL4 gene in patients suspected of X-linked mental retardation...
ZNF81 Gene Mental retardation, X-linked type 45 NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the ZNF81 gene in individuals pres...
DLG3 Gene Mental retardation, X-linked type 90 NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing sequence variants in the DLG3 gene...
AGTR2 Gene Mental retardation, X-linked type 88, AGTR2 related NGS Genetic Test
The purpose of this NGS genetic test is to look for pathogenic or likely pathogenic variants in the...
MT-TS2 Gene MERRF/MELAS overlap syndrome, MT-TS2 related NGS Genetic Test
The purpose of the MT-TS2 related NGS genetic test is to identify mutations in the MT-TS2 gene that...
MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test
To detect pathogenic variants in the MT-TK gene using next-generation sequencing, aiding in the mole...
STAMBP Gene Microcephaly-capillary malformation syndrome NGS Genetic Test
To confirm or rule out a diagnosis of STAMBP-related Microcephaly-Capillary Malformation Syndrome (M...
MT-TS1 Gene MERRF/MELAS overlap syndrome, MT-TS1 related NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the MT-TS1 gene in patients...
MAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive NGS Genetic Test
This test is performed to confirm the molecular diagnosis of autosomal recessive methionine adenosyl...
ZDHHC15 Gene Mental retardation, X-linked type 91 NGS Genetic Test
The purpose of the ZDHHC15 gene NGS genetic test is to detect pathogenic variants in the ZDHHC15 gen...
MT-ND3 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MT-ND3 gene that are associated w...
DCC Gene Mirror movements type 1 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the DCC gene using...
MT-ND2 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to detect clinically significant variants in the MT-ND2 gene...
NDUFA11 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the NDUFA11 gene that are known to caus...
NDUFAF1 Gene Mitochondrial complex I deficiency NGS Genetic Test
To detect pathogenic variants in the NDUFAF1 gene that may cause mitochondrial complex I deficiency...
MT-ND6 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the MT-ND6 gene, confirm a clinical dia...
FOXRED1 Gene Mitochondrial complex I deficiency NGS Genetic Test
This NGS test is ordered to detect sequence variants in FOXRED1 gene and help confirm the clinical d...
NDUFS6 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
NDUFS1 Gene Mitochondrial complex I deficiency NGS Genetic Test
To identify pathogenic variants in the NDUFS1 gene that cause mitochondrial complex I deficiency and...
NDUFV2 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS-based genetic test is to identify disease-causing variants in the NDUFV2 gen...
NDUFV1 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
ATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 NGS Genetic Test
The purpose of the ATPAF2 gene NGS genetic test is to confirm a clinical suspicion of Mitochondrial...
NDUFS4 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the NDUFS4 gene, which ar...
DGUOK Gene Mitochondrial DNA depletion syndrome NGS Genetic Test
To detect pathogenic variants in the DGUOK gene in order to confirm a diagnosis of DGUOK-related mit...
MFF Gene Mitochondrial encephalomyopathy NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the MFF gene that cause mitochondrial...
SUCLG1 Gene Mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the SUCLG1 gene using NGS tec...
PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the PUS1 gene and to support the clinic...
DYSF Gene Miyoshi myopathy NGS Genetic Test
The purpose of the DYSF Gene Miyoshi Myopathy NGS Genetic Test is to detect pathogenic mutations in...
ANO5 Gene Miyoshi muscular dystrophy type 3 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify disease-causing mutations in the ANO5 ge...
TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test
This test is intended to identify pathogenic variants in the TYMP gene using next-generation sequenc...
ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency NGS Genetic Test
To detect pathogenic variants in the ECHS1 gene that cause mitochondrial short-chain enoyl-CoA hydra...
TIMM21 Gene Mitochondrial respiratory chain disease, TIMM21 related NGS Genetic Test
To detect disease-causing variants in the TIMM21 gene and aid the diagnosis of mitochondrial respira...
PIGT Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 3 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the PIGT gene that cause...
BOLA3 Gene Multiple mitochondrial dysfunctions syndrome type 2 NGS Genetic Test
Identify pathogenic mutations in the BOLA3 gene to confirm the diagnosis of Multiple Mitochondrial D...
POLG Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test
The purpose is to detect pathogenic or likely pathogenic variants in the POLG gene in a patient with...
IBA57 Gene Multiple mitochondrial dysfunctions syndrome type 3 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the IBA57 gene that cause...
POMK Gene Muscle-eye-brain disease, POMK related NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the POMK gene and esta...
MSTN Gene Muscle hypertrophy NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the MSTN gene that...
DMD Gene Muscular dystrophy, Becker type NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the DMD gene to confirm a clinical...
LARGE1 Gene Muscular dystrophy type 1D NGS Genetic Test
The purpose of this NGS genetic test is to identify clinically significant variants in the LARGE1 ge...
FKRP Gene Muscular dystrophy type 1C NGS Genetic Test
The purpose of this test is to detect mutations in the FKRP gene associated with Muscular Dystrophy...
CHKB Gene Muscular dystrophy, congenital, megaconial type NGS Genetic Test
The primary purpose of this NGS genetic test is to identify disease-causing variants in the CHKB gen...
LMNA Gene Muscular dystrophy, congenital, LMNA related NGS Genetic Test
The purpose of this test is to identify clinically significant variants in the LMNA gene associated...
PLEC Gene Muscular dystrophy, limb-girdle, type 2Q NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the PLEC gene, ther...
LAMA2 Gene Muscular dystrophy type 1A NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the LAMA2 gene that cause...
CAPN3 Gene Muscular dystrophy, limb-girdle type 2A NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the CA...
PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic Test
This test is performed to confirm or rule out oculopharyngeal muscular dystrophy (OPMD) by identifyi...
RXYLT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 NGS Genetic Test
The primary purpose of this test is to detect pathogenic variants in the RXYLT1 gene that cause musc...
B4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the B4GAT1 gene in i...
DMD Gene Muscular dystrophy, Duchenne type NGS Genetic Test
The primary purpose of this DMD gene NGS genetic test is to identify disease-causing sequence varian...
POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of muscular dystrophy-dystroglycanopa...
POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic Test
To identify pathogenic mutations in the POMT2 gene to confirm the diagnosis of muscular dystrophy-dy...
POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 NGS Genetic Test
To confirm or exclude a clinical suspicion of congenital muscular dystrophy-dystroglycanopathy type...
POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the POMT1 gene to confirm...
DAG1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9 NGS Genetic Test
To confirm a clinical diagnosis of DAG1-related limb-girdle muscular dystrophy type C9 by identifyin...
POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 NGS Genetic Test
This test is ordered when there is clinical suspicion of congenital muscular dystrophy-dystroglycano...
MUSK Gene Myasthenic syndrome associated with acetylcholine receptor deficiency NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the MUSK gene in in...
SCN4A Gene Myasthenic syndrome due to mutation in SCN4A NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the SCN4A gene that are...
CAPN1 Gene Muscular-skeletal disorder, CAPN1 related NGS Genetic Test
To detect mutations in the CAPN1 gene associated with muscular-skeletal disorders, confirming diagno...
GFPT1 Gene Myasthenia congenital with tubular aggregates 1 NGS Genetic Test
The purpose of this test is to confirm the diagnosis of Myasthenia Congenital with Tubular Aggregate...
POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the POMGNT1 gene that cause...
FLNC Gene Myopathy, distal type 4 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the FLNC gene that cause...
AGRN Gene Myasthenic syndrome, congenital NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the AGRN gene that cause...
CAV3 Gene Myopathy, distal, Tateyama type NGS Genetic Test
To detect pathogenic mutations in the CAV3 gene using next-generation sequencing technology, confirm...
CHRNA1 Gene Myasthenic syndrome, congenital, slow-channel NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the CHRNA1 gene that caus...
DYSF Gene Myopathy, distal with anterior tibial onset NGS Genetic Test
The purpose of the DYSF gene NGS genetic test is to identify disease-causing mutations in the DYSF g...
CHRNA1 Gene Myasthenic syndrome, congenital, fast channel NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the CHRNA1 gene in...
CHAT Gene Myasthenic syndrome, congenital NGS Genetic Test
To confirm or exclude a molecular diagnosis of CHAT-related congenital myasthenic syndrome in indivi...
POMT2 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2 NGS Genetic Test
To detect disease-causing variants in the POMT2 gene, confirm the molecular diagnosis of muscular dy...
TTN Gene Myopathy, early-onset with fatal cardiomyopathy NGS Genetic Test
To identify disease-causing variants in the TTN gene associated with early-onset myopathy and fatal...
YARS2 Gene Myopathy, lactic acidosis, and sideroblastic anemia type 2 NGS Genetic Test
The purpose of this test is to detect clinically significant sequence variants in the YARS2 gene. It...
DES Gene Myopathy, myofibrillar, Desmin related NGS Genetic Test
The purpose of DES Gene Myopathy NGS Genetic Test is to identify pathogenic variants in the DES gene...
MT-TQ Gene Myopathy, MT-TQ related NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the MT-TQ gene to conf...
BAG3 Gene Myopathy, myofibrillar type 6 NGS Genetic Test
The purpose of the BAG3 gene NGS test is to confirm a clinical diagnosis of myofibrillar myopathy ty...
GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the GFER gene by targeted Next-Genera...
LDB3 Gene Myopathy, myofibrillar, ZASP related NGS Genetic Test
To confirm or rule out a genetic cause of myofibrillar myopathy / ZASP-related myopathy by analysing...
COL6A2 Gene Myosclerosis, autosomal recessive NGS Genetic Test
The primary purpose of this NGS genetic test is to detect mutations in the COL6A2 gene that cause au...
CRYAB Gene Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing sequence variants in the CRYAB g...
MYH7 Gene Myosin storage myopathy NGS Genetic Test
To confirm or exclude a diagnosis of MYH7-related myosin storage myopathy in individuals with sugges...
CLCN1 Gene Myotonia congenita NGS Genetic Test
This test is ordered to confirm a clinical diagnosis of myotonia congenita, document the specific CL...
ACTA1 Gene Myopathy, scapulohumeroperoneal NGS Genetic Test
This test is intended to identify clinically significant variants in the ACTA1 gene in individuals w...
DMPK Gene Myotonic dystrophy type 1 NGS Genetic Test
The purpose of this test is to provide a molecular confirmation of myotonic dystrophy type 1 in a sy...
CNBP Gene Myotonic dystrophy type 2 NGS Genetic Test
The CNBP gene NGS genetic test is performed to identify pathogenic mutations or repeat expansions in...
HCRT Gene Narcolepsy NGS Genetic Test
The purpose of this test is to detect genetic variants in the HCRT gene that are associated with nar...
TPM2 Gene Nemaline myopathy type 4 NGS Genetic Test
The purpose of this NGS genetic test is to detect clinically significant variants in the TPM2 gene a...
MTM1 Gene Myotubular myopathy X-linked NGS Genetic Test
To identify pathogenic variants in the MTM1 gene using next-generation sequencing, helping confirm o...
MT-TV Gene Neonatal death due Leigh syndrome, MT-TV related NGS Genetic Test
To detect pathogenic variants in the MT-TV gene associated with Leigh syndrome and neonatal death ri...
TPM3 Gene Nemaline myopathy type 1 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the TPM3 gene, whi...
C19orf12 Gene Neurodegeneration with brain iron accumulation type 4 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the C19orf12 gene in indi...
TNNT1 Gene Nemaline myopathy type 5 NGS Genetic Test
The purpose of this test is to confirm or rule out a molecular diagnosis of Nemaline Myopathy Type 5...
COASY Gene Neurodegeneration with brain iron accumulation type 6 NGS Genetic Test
The purpose of this NGS test is to detect disease-causing variants in the COASY gene in a patient wi...
BRAT1 Gene Neurodevelopmental disorder with cerebellar atrophy and with or without seizures NGS Genetic Test
To identify pathogenic variants in the BRAT1 gene to confirm a diagnosis of neurodevelopmental disor...
GTPBP2 Gene Neurodegeneration with brain iron accumulation, GTPBP2 related NGS Genetic Test
The purpose of this NGS genetic test is to detect variants in the GTPBP2 gene that are associated wi...
KIF2A Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test
To detect pathogenic variants in the KIF2A gene associated with neurodevelopmental malformations and...
TUBG1 Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test
To identify pathogenic variants in the TUBG1 gene associated with neurodevelopmental malformations a...
KIF5C Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the KIF5C gene that may be associated...
DES Gene Neurogenic scapuloperoneal syndrome, Kaeser type NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the DES gene, confirming the diagnos...
SPTBN5 Gene Neuronal migration disorder NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SPTBN5 gene associated with neuro...
CTNNA2 Gene Neuronal migration disorder NGS Genetic Test
To identify disease-causing variants in the CTNNA2 gene using NGS and to provide a genetic diagnosis...
HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic Test
To identify pathogenic variants in the HSPB8 gene that cause distal hereditary motor neuropathy type...
EOMES Gene Neuronal migration disorder NGS Genetic Test
The purpose of this test is to sequence the EOMES gene for mutations associated with neuronal migrat...
IGHMBP2 Gene Neuronopathy distal hereditary motor type 6 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify mutations in the IGHMBP2 gene that are r...
HINT1 Gene Neuromyotonia and axonal neuropathy, autosomal recessive NGS Genetic Test
The purpose of this HINT1 gene NGS genetic test is to detect disease-causing variants in the HINT1 g...
SRGAP2 Gene Neuronal migration disorder NGS Genetic Test
The purpose of this test is to identify disease-causing sequence variants in the SRGAP2 gene to supp...
PMP22 Gene Neuropathy with liability to pressure palsies [HNPP] NGS Genetic Test
The purpose of this NGS genetic test is to identify the deletion of the PMP22 gene on chromosome 17p...
HSPB1 Gene Neuronopathy distal hereditary motor type 2B NGS Genetic Test
To confirm or exclude the diagnosis of HSPB1-related distal hereditary motor neuropathy type 2B by i...
DCTN1 Gene Neuronopathy distal hereditary motor type 7B NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the DCTN1 gene and confirm or ex...
GARS1 Gene Neuronopathy distal hereditary motor type 5 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic mutations in the G...
POLG Gene Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis NGS Genetic Test
To detect pathogenic variants in the POLG gene that are associated with mitochondrial neuropathies,...
BSCL2 Gene Neuropathy, distal hereditary motor, type 5A NGS Genetic Test
To confirm the genetic basis of distal hereditary motor neuropathy type 5A by identifying pathogenic...
CCT5 Gene Neuropathy, hereditary sensory, with spastic paraplegia NGS Genetic Test
The purpose of the CCT5 gene NGS genetic test is to detect pathogenic variants in the CCT5 gene asso...
PNPLA2 Gene Neutral lipid storage disease with myopathy NGS Genetic Test
To confirm the clinical diagnosis of neutral lipid storage disease with myopathy by identifying path...
ATL1 Gene Neuropathy, hereditary sensory, type 1D NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
ATL3 Gene Neuropathy, hereditary sensory, type 1F NGS Genetic Test
The purpose of this NGS test is to identify a pathogenic variant in the ATL3 gene that may explain s...
NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the NPC1 gene using next-generat...
GNE Gene Nonaka myopathy NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the GNE gene, confirming...
NDP Gene Norrie disease NGS Genetic Test
To detect pathogenic variants in the NDP gene by Next Generation Sequencing and to support diagnosis...
SCN9A Gene Neuropathy, hereditary sensory and autonomic type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SCN9A gene, confirm or exclude SC...
PANK2 Gene Pantothenate kinase-associated neurodegeneration NGS Genetic Test
To confirm a clinical suspicion of PKAN, to identify pathogenic variants in the PANK2 gene, and to a...
MID1 Gene Opitz G syndrome NGS Genetic Test
The primary purpose of the MID1 Gene Opitz G Syndrome NGS Genetic Test is to confirm or rule out Opi...
ALX4 Gene Parietal foramina type 2 NGS Genetic Test
The test is intended to identify disease-causing variants in the ALX4 gene in patients with clinical...
SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic Test
This test aims to identify disease-causing variants in the SCN4A gene to confirm or exclude Paramyot...
ATP7A Gene Occipital horn syndrome NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the ATP7A gene in individuals with clin...
MT-TT Gene Parkinson disease, susceptibility to, MT-TT related NGS Genetic Test
This NGS-based genetic test detects mutations in the MT-TT gene, which has been associated with incr...
GBA Gene Parkinson disease, late-onset, susceptibility to NGS Genetic Test
The primary purpose of this test is to detect pathogenic or likely pathogenic variants in the GBA ge...
ATP6AP2 Gene Parkinsonism with spasticity, X-linked NGS Genetic Test
The purpose of this test is to confirm or exclude a pathogenic variant in the ATP6AP2 gene associate...
PNKD Gene Paroxysmal nonkinesigenic dyskinesia NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the PNKD gene. In...
SOX10 Gene Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SOX10 gene that are responsible f...
SLC6A3 Gene Parkinsonism-Dystonia, infantile NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the SLC6A3 gene in individuals w...
SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic Test
To identify pathogenic mutations in the SLC16A2 (MCT8) gene associated with Allan-Herndon-Dudley syn...
PLP1 Gene Pelizaeus-Merzbacher disease NGS Genetic Test
The purpose of the PLP1 gene NGS genetic test is to confirm or exclude a molecular diagnosis of Peli...
ARFGEF2 Gene Periventricular heterotopia with microcephaly NGS Genetic Test
To confirm a clinical or radiological diagnosis of periventricular heterotopia with microcephaly by...
ARX Gene Partington syndrome NGS Genetic Test
To identify disease-causing variants in the ARX gene in individuals with clinical features suggestiv...
PEX5 Gene Peroxisome biogenesis disorder type 2B NGS Genetic Test
To detect pathogenic sequence variants in the PEX5 gene that are responsible for Peroxisome Biogenes...
PSEN1 Gene Pick disease NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the PSEN1 gene that are ass...
LARS2 Gene Perrault syndrome type 4 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify clinically significant variants in the L...
TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the TREM2 gene associated with P...
PGK1 Gene Phosphoglycerate kinase 1 deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the PGK1 gene, c...
TYROBP Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the TYROBP gene that cau...
RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency NGS Genetic Test
To confirm a clinical diagnosis of RBCK1-associated polyglucosan body myopathy type 1, to identify p...
PEX5 Gene Peroxisome biogenesis disorder type 2A NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the PEX5 gene using next-generatio...
TSEN54 Gene Pontocerebellar hypoplasia type 2A NGS Genetic Test
To confirm a clinical suspicion of Pontocerebellar hypoplasia type 2A (PCH2A) by detecting pathogeni...
NR2E1 Gene Polymicrogyria bilateral occipital NGS Genetic Test
The purpose of this NGS genetic test is to identify clinically significant variants in the NR2E1 gen...
TSEN34 Gene Pontocerebellar hypoplasia type 2C NGS Genetic Test
To identify pathogenic mutations in the TSEN34 gene in individuals with clinical suspicion of Pontoc...
TSEN2 Gene Pontocerebellar hypoplasia type 2B NGS Genetic Test
To detect pathogenic variants in the TSEN2 gene and confirm the molecular diagnosis of pontocerebell...
TSEN54 Gene Pontocerebellar hypoplasia type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the TSEN54 gene to confirm or exclude...
CHMP1A Gene Pontocerebellar hypoplasia type 8 NGS Genetic Test
To confirm the clinical diagnosis of Pontocerebellar Hypoplasia Type 8 by identifying pathogenic var...
VPS53 Gene Pontocerebellar hypoplasia type 2E NGS Genetic Test
To confirm a clinical suspicion of Pontocerebellar Hypoplasia Type 2E by detecting disease-causing v...
SEPSECS Gene Pontocerebellar hypoplasia type 2D NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the SE...
RARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the RARS2 gene that cause...
CLP1 Gene Pontocerebellar hypoplasia, type 10 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the CLP1 gene that cause pontocerebel...
TSEN54 Gene Pontocerebellar hypoplasia type 5 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the TSEN54 gene, confirm a...
COL4A2 Gene Porencephaly type 2 NGS Genetic Test
The purpose of the COL4A2 gene porencephaly type 2 NGS genetic test is to detect pathogenic or likel...
AMPD2 Gene Pontocerebellar hypoplasia, type 9 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the AMPD2 gene that are a...
chr. 15q11 Gene Prader-Willi syndrome NGS Genetic Test
The purpose of this test is to identify genetic variants in chromosome 15q11 that cause Prader-Willi...
SCN4A Gene Potassium-aggravated myotonia NGS Genetic Test
This test is performed to confirm the diagnosis of potassium-aggravated myotonia, identify SCN4A gen...
ALS2 Gene Primary lateral sclerosis, juvenile NGS Genetic Test
This NGS genetic test is intended to detect disease-causing variants in the ALS2 gene that are assoc...
NDN Gene Prader-Willi syndrome NGS Genetic Test
The primary purpose of the NDN Gene Prader-Willi Syndrome NGS Genetic Test is to confirm or exclude...
POLG Gene Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the PO...
SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant NGS Genetic Test
The primary purpose of this NGS genetic test is to identify pathogenic variants in the SLC25A4 gene...
SNRPN Gene Prader-Willi syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify genetic changes in the SNRPN gene and related ge...
RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive NGS Genetic Test
To detect pathogenic variants in the RNASEH1 gene associated with progressive external ophthalmopleg...
RUBCN Gene Salih ataxia NGS Genetic Test
To identify disease-causing variants in the RUBCN gene and confirm a diagnosis of Salih ataxia.
RRM2B Gene Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the RRM2B gene that...
MYH7 Gene Scapuloperoneal myopathy, MYH7 related NGS Genetic Test
The purpose of this test is to confirm the molecular diagnosis of scapuloperoneal myopathy by detect...
PRICKLE1 Gene Progressive myoclonus epilepsy type 1A NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the PRICKLE1 gen...
TH Gene Segawa syndrome, autosomal recessive NGS Genetic Test
This NGS genetic test is performed to detect pathogenic mutations in the TH gene associated with aut...
KCNQ2 Gene Seizures, benign neonatal, type 1 NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the KCNQ2 gene to confirm a diagno...
HSPG2 Gene Schwartz-Jampel syndrome type 1 NGS Genetic Test
The purpose of this test is to detect sequence variants in the HSPG2 gene that can confirm or exclud...
PRRT2 Gene Seizures, benign familial infantile, type 2 NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the PRRT2 gene in individuals with...
KCNJ10 Gene SESAME syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the KCNJ10 gene associated with SESA...
ALDH3A2 Gene Sjogren-Larsson syndrome NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the ALDH3A2 gene and thereby confi...
RAI1 Gene Smith-Magenis syndrome NGS Genetic Test
This NGS genetic test is intended to detect pathogenic variants in the RAI1 gene, confirming the cli...
ARHGEF10 Gene Slowed nerve conduction velocity, autosomanal dominant NGS Genetic Test
To identify pathogenic mutations in the ARHGEF10 gene associated with autosomal dominant slowed nerv...
KCNQ3 Gene Seizures, benign neonatal, type 2 NGS Genetic Test
The purpose of this NGS genetic test is to identify a disease-causing variant in the KCNQ3 gene in i...
KIF1C Gene Spastic ataxia type 2, autosomal recessive NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the KIF1C gene, confirmi...
MARS2 Gene Spastic ataxia type 3, autosomal recessive NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the MARS2 gene that cause spastic ata...
VAMP1 Gene Spastic ataxia type 1, autosomal dominant NGS Genetic Test
The test is used to establish or confirm a molecular diagnosis of spastic ataxia type 1, support cli...
ALS2 Gene Spastic paralysis, infantile onset ascending NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the ALS2 gene that cause Infantile...
AFG3L2 Gene Spastic ataxia type 5, autosomal recessive NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the AFG3L2 gene in...
SPG11 Gene SPG11 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the SPG11 gene, confirming the clinical...
IBA57 Gene Spastic paraplegia type 74, autosomal recessive NGS Genetic Test
This test is offered to confirm a suspected diagnosis of spastic paraplegia type 74, characterize th...
MTPAP Gene Spastic ataxia type 4, autosomal recessive NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the MTPAP gene, supporting...
ULK2 Gene Smith-Magenis syndrome, ULK2 related NGS Genetic Test
The purpose of this test is to aid in the diagnosis of ULK2-related neurodevelopmental disorders, in...
SACS Gene Spastic ataxia Charlevoix-Saguenay type NGS Genetic Test
The purpose of this test is to identify or exclude pathogenic variants in the SACS gene, confirm a c...
L1CAM Gene SPG1 NGS Genetic Test
The purpose of the L1CAM Gene SPG1 NGS Genetic Test is to detect mutations in the L1CAM gene that ca...
HSPD1 Gene SPG13 NGS Genetic Test
To confirm or exclude a diagnosis of SPG13 in individuals presenting with symptoms of hereditary spa...
KIF5A Gene SPG10 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the KIF5A gene t...
ZFYVE26 Gene SPG15 NGS Genetic Test
The purpose of the ZFYVE26 Gene SPG15 NGS Genetic Test is to confirm or rule out a clinical diagnosi...
PLP1 Gene SPG2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of hereditary spastic paraplegia type 2...
ERLIN2 Gene SPG18 NGS Genetic Test
The purpose of this test is to detect disease-causing mutations in the ERLIN2 gene to confirm or exc...
BSCL2 Gene SPG17 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the BSCL2 gene i...
SPG21 Gene SPG21 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SPG21 gene, which is as...
B4GALNT1 Gene SPG26 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the B4GALNT1 gene associated with SPG...
DDHD1 Gene SPG28 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the DDHD1 gene tha...
KIF1A Gene SPG30 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the KIF1A gene that are associated wi...
PNPLA6 Gene SPG39 NGS Genetic Test
The purpose of the PNPLA6 Gene SPG39 NGS Genetic Test is to confirm or exclude a clinical diagnosis...
FA2H Gene SPG35 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the FA2H gene that cause hereditary spa...
ZFYVE27 Gene SPG33 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the ZFYVE27 gene a...
SLC33A1 Gene SPG42 NGS Genetic Test
The primary purpose of this NGS genetic test is to detect pathogenic variants in the SLC33A1 gene th...
GJC2 Gene SPG44 NGS Genetic Test
The primary purpose of the GJC2 Gene SPG44 NGS Genetic Test is to detect pathogenic variants in the...
NT5C2 Gene SPG45 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the NT5C2 gene that are associated w...
SPAST Gene SPG4 NGS Genetic Test
The purpose of the SPAST Gene SPG4 NGS Genetic Test is to identify disease-causing variants in the S...
AP4B1 Gene SPG47 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the AP4B1 gene that cause spastic pa...
AR Gene Spinal and bulbar muscular atrophy X-linked NGS Genetic Test
The primary purpose of this test is to confirm or exclude a clinical diagnosis of Spinal and Bulbar...
AP5Z1 Gene SPG48 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the AP5Z1 gene a...
AP4M1 Gene SPG50 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the AP4M1 gene in individ...
PLEKHG5 Gene Spinal muscular atrophy distal, autosomal recessive type 4 NGS Genetic Test
The purpose of this NGS genetic test is to identify sequence variants in the PLEKHG5 gene that are a...
ATL1 Gene SPG3A NGS Genetic Test
This test is intended to detect mutations in the ATL1 gene associated with hereditary spastic parapl...
TECPR2 Gene SPG49 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the TECPR2 gene...
AP4E1 Gene SPG51 NGS Genetic Test
This test is ordered to confirm or exclude a genetic cause of hereditary spastic paraplegia type 51....
SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic Test
To detect disease-causing variants in the SMN1 gene to support diagnosis of Spinal Muscular Atrophy...
ZNF41 Gene Mental retardation, X-linked type 89 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the ZNF41 gene to confirm a diagnosis...
COL6A1 Gene Bethlem Myopathy NGS Genetic Test
The purpose of the COL6A1 Gene Bethlem Myopathy NGS Genetic Test is to detect mutations in the COL6A...
SMN1 Gene Spinal muscular atrophy type 3 NGS Genetic Test
To detect pathogenic mutations in the SMN1 gene for the diagnosis of Spinal Muscular Atrophy Type 3,...
PRKCH Gene Cerebral Infarction, Susceptibility to NGS Genetic Test
The purpose of this test is to analyze DNA for variations in the PRKCH gene that may indicate an inc...
FLNA Gene Heterotopia, periventricular, X-linked dominant NGS Genetic Test
To diagnose FLNA Gene Heterotopia Periventricular X-Linked Dominant by detecting mutations in the FL...
SLC17A5 Gene Sialuria, finish type NGS Genetic Test
The purpose of the SLC17A5 Gene Sialuria NGS Genetic Test is to diagnose sialuria by detecting mutat...
BICD2 Gene Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 NGS Genetic Test
The purpose of this test is to diagnose Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant...
ATP7A Gene Spinal muscular atrophy, distal, X-linked NGS Genetic Test
To diagnose mutations in the ATP7A gene causing distal X-linked spinal muscular atrophy, confirm cli...
DNAJB2 Gene Spinal muscular atrophy type 5 NGS Genetic Test
The purpose of the DNAJB2 Gene Spinal Muscular Atrophy Type 5 NGS Genetic Test is to identify mutati...
DYNC1H1 Gene Spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant NGS Genetic Test
To detect mutations in the DYNC1H1 gene for diagnosis of spinal muscular atrophy, lower extremity-pr...
ATP2B3 Gene Spinocerebellar ataxia type 1, X-linked NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 1 (SCA1) by detecting pathogenic...
ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic Test
To detect mutations in the ASAH1 gene associated with Spinal Muscular Atrophy with Progressive Myocl...
PPP2R2B Gene Spinocerebellar ataxia type 12, autosomal dominant NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 12 by detecting mutations in the...
ATXN1 Gene Spinocerebellar ataxia type 1, autosomal dominant NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 1 (SCA1) by detecting mutations...
ATXN10 Gene Spinocerebellar ataxia type 10, autosomal dominant NGS Genetic Test
The purpose of the ATXN10 Gene Spinocerebellar ataxia type 10 NGS Genetic Test is to detect mutation...
ANO10 Gene Spinocerebellar ataxia type 10, autosomal recessive NGS Genetic Test
The purpose of the ANO10 Gene Spinocerebellar ataxia type 10 NGS Genetic Test is to detect mutations...
IFRD1 Gene Spinocerebellar ataxia type 18, autosomal dominant NGS Genetic Test
To diagnose Spinocerebellar ataxia type 18 by detecting mutations in the IFRD1 gene using Next-Gener...
CWF19L1 Gene Spinocerebellar ataxia type 17, autosomal recessive NGS Genetic Test
To diagnose Spinocerebellar ataxia type 17 (SCA17) by identifying mutations in the CWF19L1 gene usin...
TMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant NGS Genetic Test
The purpose of this test is to detect mutations in the TMEM240 gene to confirm diagnosis of Spinocer...
GRID2 Gene Spinocerebellar ataxia type 18, autosomal recessive NGS Genetic Test
The purpose of this test is to identify mutations in the GRID2 gene that cause spinocerebellar ataxi...
NOP56 Gene Spinocerebellar ataxia type 36, autosomal dominant NGS Genetic Test
The purpose of the NOP56 Gene SCA36 NGS Genetic Test is to confirm the diagnosis of Spinocerebellar...
ATXN2 Gene Spinocerebellar ataxia type 2, autosomal dominant NGS Genetic Test
The purpose of the ATXN2 Gene Spinocerebellar Ataxia Type 2 NGS Genetic Test is to diagnose SCA2 by...
PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 4 (SCA4) by detecting mutations...
SPTBN2 Gene Spinocerebellar ataxia type 5, autosomal dominant NGS Genetic Test
To diagnose Spinocerebellar ataxia type 5 by detecting pathogenic mutations in the SPTBN2 gene using...
CACNA1A Gene Spinocerebellar ataxia type 6, autosomal dominant NGS Genetic Test
To detect mutations in the CACNA1A gene for the diagnosis of Spinocerebellar Ataxia Type 6, aiding i...
TGM6 Gene Spinocerebellar ataxia type 35, autosomal dominant NGS Genetic Test
The purpose of this test is to confirm the presence of TGM6 gene mutations associated with Spinocere...
SYNE1 Gene Spinocerebellar ataxia type 8, autosomal recessive NGS Genetic Test
To diagnose Spinocerebellar ataxia type 8 by detecting mutations in the SYNE1 gene using Next-Genera...
TDP1 Gene Spinocerebellar ataxia with axonal neuropathy, autosomal recessive NGS Genetic Test
To diagnose Spinocerebellar ataxia with axonal neuropathy, autosomal recessive (SCAN1) by detecting...
ATXN7 Gene Spinocerebellar ataxia type 7, autosomal dominant NGS Genetic Test
The purpose of the ATXN7 Gene SCA7 Genetic Test is to identify mutations in the ATXN7 gene that caus...
ATXN8OS Gene Spinocerebellar ataxia type 8, autosomal dominant NGS Genetic Test
To diagnose Spinocerebellar Ataxia Type 8 by detecting mutations in the ATXN8OS gene using NGS techn...
TPP1 Gene Spinocerebellar ataxia type 7, autosomal recessive NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 7 by detecting pathogenic mutati...
COQ8A Gene Spinocerebellar ataxia type 9, autosomal rececssive NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Spinocerebellar ataxia type 9 (SCA9) by detect...
SHROOM4 Gene Stocco dos Santos X-linked mental retardation syndrome NGS Genetic Test
To diagnose Stocco dos Santos X-linked mental retardation syndrome by identifying pathogenic variant...
TWNK Gene Spinocerebellar ataxia, infantile-onset NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the TWNK gene that cause infantile-ons...
PDE8B Gene Striatal degeneration NGS Genetic Test
To identify mutations in the PDE8B gene that cause striatal degeneration, aiding in diagnosis, treat...
SLC25A19 Gene Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type NGS Genetic Test
To detect pathogenic variants in the SLC25A19 gene for diagnosis of Thiamine Metabolism Dysfunction...
CACNA1S Gene Thyrotoxic periodic paralysis type 1 NGS Genetic Test
The purpose of this test is to identify genetic mutations in the CACNA1S gene that cause thyrotoxic...
TTN Gene Tibial muscular dystrophy, tardive NGS Genetic Test
The purpose of this test is to detect mutations in the TTN gene associated with tibial muscular dyst...
SLITRK1 Gene Tourette syndrome NGS Genetic Test
The purpose of this test is to diagnose Tourette syndrome by detecting mutations in the SLITRK1 gene...
FUS Gene Tremor essential type 4 NGS Genetic Test
The purpose of this test is to detect mutations in the FUS gene that cause essential tremor type 4,...
KCNJ18 Gene Thyrotoxic periodic paralysis type 2 NGS Genetic Test
The purpose of the KCNJ18 Gene Thyrotoxic Periodic Paralysis Type 2 NGS Genetic Test is to identify...
DRD3 Gene Tremor, sssential type 1, hereditary NGS Genetic Test
To diagnose hereditary essential tremor by identifying pathogenic variants in the DRD3 gene through...
TSC1 Gene Tuberous sclerosis NGS Genetic Test
The purpose of this test is to identify mutations in the TSC1 gene to confirm a diagnosis of tuberou...
COL6A1 Gene Ullrich congenital muscular dystrophy NGS Genetic Test
The purpose of this test is to identify mutations in the COL6A1 gene that cause Ullrich Congenital M...
TSC2 Gene Tuberous sclerosis type 2 NGS Genetic Test
The purpose of the TSC2 Gene Tuberous Sclerosis Type 2 NGS Genetic Test is to identify mutations in...
COL6A2 Gene Ullrich congenital muscular dystrophy NGS Genetic Test
The purpose of the COL6A2 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic Test is to identify...
COL6A3 Gene Ullrich congenital muscular dystrophy type 1 NGS Genetic Test
To diagnose Ullrich Congenital Muscular Dystrophy Type 1 by identifying pathogenic mutations in the...
CRB2 Gene Ventriculomegaly with cystic kidney disease NGS Genetic Test
The purpose of the CRB2 Gene NGS Genetic Test is to detect mutations in the CRB2 gene to confirm a d...
COL12A1 Gene Ullrich congenital muscular dystrophy type 2 NGS Genetic Test
The purpose of this test is to diagnose Ullrich congenital muscular dystrophy type 2 by detecting pa...
TTPA Gene Vitamin E familial deficiency NGS Genetic Test
To detect mutations in the TTPA gene for early diagnosis and management of Vitamin E familial defici...
UROC1 Gene Urocanase deficiency NGS Genetic Test
To diagnose urocanase deficiency by identifying pathogenic mutations in the UROC1 gene using NGS tec...
CSTB Gene Unverricht-Lundborg disease NGS Genetic Test
The purpose of this test is to identify mutations in the CSTB gene associated with Unverricht-Lundbo...
SNAI2 Gene Waardenburg syndrome type 2D NGS Genetic Test
To diagnose Waardenburg syndrome type 2D by identifying mutations in the SNAI2 gene using next-gener...
FKRP Gene Walker-Warburg syndrome or muscle-eye-brain disease, FKRP related NGS Genetic Test
To identify mutations in the FKRP gene for diagnosis of Walker-Warburg syndrome or muscle-eye-brain...
CRPPA Gene Walker-Warburg syndrome NGS Genetic Test
To diagnose Walker-Warburg syndrome by detecting mutations in the CRPPA gene using next-generation s...
FKTN Gene Walker-Warburg syndrome NGS Genetic Test
To identify mutations in the FKTN gene for accurate diagnosis of Walker-Warburg Syndrome, enabling e...
RAB3GAP1 Gene Warburg micro syndrome type 1 NGS Genetic Test
To identify mutations in the RAB3GAP1 gene for diagnosis of Warburg Micro Syndrome Type 1, aiding in...
WDR27 Gene WDR27-related brain disorders NGS Genetic Test
The purpose of the WDR27 Gene NGS Genetic Test is to identify mutations in the WDR27 gene that cause...
TLR3 Gene Herpes simplex encephalitis type 2, susceptibility to NGS Genetic Test
To identify genetic variations in the TLR3 gene that may increase susceptibility to Herpes Simplex E...
NF1 Gene Neurofibromatosis type 1 NGS Genetic Test
To detect pathogenic mutations in the NF1 gene for the diagnosis of Neurofibromatosis type 1, aiding...
SPRED1 Gene Neurofibromatosis type 1 -like syndrome NGS Genetic Test
The purpose of the SPRED1 Gene NGS Genetic Test is to diagnose Neurofibromatosis type 1-like syndrom...
NF2 Gene Neurofibromatosis type 2 NGS Genetic Test
To detect mutations in the NF2 gene for diagnosis of Neurofibromatosis type 2.
NEXN Gene Cardiomyopathy, dilated type 1CC NGS Genetic Test
The purpose of the NEXN Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the NEXN ge...
BAG3 Gene Cardiomyopathy, dilated type 1HH NGS Genetic Test
To diagnose BAG3 gene mutations causing dilated cardiomyopathy type 1HH, enabling accurate diagnosis...
TCAP Gene Cardiomyopathy, dilated type 1N NGS Genetic Test
To detect mutations in the TCAP gene associated with dilated cardiomyopathy type 1N for accurate dia...
ACTC1 Gene Cardiomyopathy, dilated type 1R NGS Genetic Test
To diagnose mutations in the ACTC1 gene that cause dilated cardiomyopathy type 1R, enabling early in...
MYH7 Gene Cardiomyopathy, dilated type 1S NGS Genetic Test
The purpose of the MYH7 Gene Cardiomyopathy, Dilated Type 1S NGS Genetic Test is to detect pathogeni...
PSEN1 Gene Cardiomyopathy, dilated type 1U NGS Genetic Test
To detect mutations in the PSEN1 gene that cause dilated cardiomyopathy type 1U, enabling accurate d...
VCL Gene Cardiomyopathy, dilated type 1W NGS Genetic Test
To diagnose VCL Gene Cardiomyopathy Dilated Type 1W by detecting mutations in the VCL gene using NGS...
PRKAG2 Gene Cardiomyopathy, familial hypertrophic type 6 NGS Genetic Test
To detect mutations in the PRKAG2 gene associated with familial hypertrophic cardiomyopathy type 6 f...
MYL3 Gene Cardiomyopathy, familial hypertrophic type 8 NGS Genetic Test
The purpose of the MYL3 Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the MYL3 ge...
PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic Test
The purpose of this test is to identify mutations in the PHOX2B gene to confirm a diagnosis of centr...
ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
The purpose of the ASCL1 gene NGS genetic test is to identify mutations in the ASCL1 gene associated...
MT-TD Gene Mitochondrial myopathy, isolated NGS Genetic Test
To detect pathogenic mutations in the MT-TD gene associated with mitochondrial myopathy, aiding in d...
MT-TM Gene Mitochondrial myopathy, MT-TM related NGS Genetic Test
To identify pathogenic mutations in the MT-TM gene associated with mitochondrial myopathy, enabling...
MT-TA Gene Mitochondrial myopathy, MT-TA related NGS Genetic Test
To detect mutations in the MT-TA gene associated with mitochondrial myopathy, aiding in diagnosis, g...
NOTCH3 Gene CADASIL NGS Genetic Test
To diagnose CADASIL by detecting mutations in the NOTCH3 gene using NGS technology.
PDCD10 Gene Cerebral cavernous malformations type 3 NGS Genetic Test
The purpose of this test is to identify mutations in the PDCD10 gene associated with cerebral cavern...
RNF213 Gene Moyamoya disease type 2, susceptibility to NGS Genetic Test
The purpose of this test is to identify mutations in the RNF213 gene that increase susceptibility to...
ISCU Gene Myopathy with lactic acidosis hereditary NGS Genetic Test
To diagnose mutations in the ISCU gene causing hereditary myopathy with lactic acidosis, enabling ac...
HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the HSD17B10 gene to confirm a diagnosi...
AMT Gene Glycine encephalopathy NGS Genetic Test
The purpose of the AMT Gene Glycine Encephalopathy NGS Genetic Test is to identify mutations in the...
OCLN Gene Band-like calcification with simplified gyration and polymicrogyria NGS Genetic Test
The purpose of this test is to diagnose band-like calcification with simplified gyration and polymic...
PDGFRB Gene Basal ganglia calcification type 4 NGS Genetic Test
To diagnose Basal Ganglia Calcification Type 4 by detecting pathogenic mutations in the PDGFRB gene...
PDGFB Gene Basal ganglia calcification type 5, idiopathic NGS Genetic Test
The purpose of this test is to detect mutations in the PDGFB gene associated with basal ganglia calc...
XPR1 Gene Basal ganglia calcification type 6, idiopathic NGS Genetic Test
To identify mutations in the XPR1 gene associated with basal ganglia calcification type 6, enabling...
GDNF Gene Central hypoventilation syndrome, congenital NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the GDNF gene to confirm a diagnosis...
EDN3 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
The purpose of this test is to identify mutations in the EDN3 gene and other genes associated with c...
GPSM2 Gene Chudley-McCullough syndrome NGS Genetic Test
To diagnose Chudley-McCullough Syndrome by identifying mutations in the GPSM2 gene using NGS technol...
TGIF1 Gene Holoprosencephaly type 4 NGS Genetic Test
To diagnose mutations in the TGIF1 gene associated with holoprosencephaly type 4, aiding in clinical...
SIX3 Gene Holoprosencephaly type 2 NGS Genetic Test
The purpose of the SIX3 Gene Holoprosencephaly Type 2 NGS Genetic Test is to identify mutations in t...
DCAF17 Gene Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal syndrome NGS Genetic Test
To confirm a clinical diagnosis of DCAF17-related syndrome, identify the specific genetic mutation,...
PIGV Gene Hyperphosphatasia with mental retardation syndrome type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the PIGV gene that cause Hyperphosph...
SMN1 Gene Spinal muscular atrophy type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the SMN1 gene that cause Spinal Muscula...
PIGO Gene Hyperphosphatasia with mental retardation syndrome type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of HPMRS2 by identifying disease-causing...
HYLS1 Gene Hydrolethalus syndrome NGS Genetic Test
The purpose of the HYLS1 Gene Hydrolethalus Syndrome NGS Genetic Test is to identify pathogenic muta...
PGAP3 Gene Hyperphosphatasia with mental retardation syndrome type 4 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of PGAP3-HPMRS4 by identifying pathogeni...
PIGW Gene Hyperphosphatasia with mental retardation syndrome type 5 NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the PIGW gene that cause Hyperphosp...
EHMT1 Gene Kleefstra syndrome NGS Genetic Test
The primary purpose of this test is to confirm or rule out a diagnosis of Kleefstra syndrome in indi...
MED12 Gene Lujan-Fryns syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MED12 gene that are associated wi...
RAB3GAP2 Gene Martsolf syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the RAB3GAP2 gene that cause Martsolf syndrome. I...
XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the XK gene that cause McLeod syndr...
AKT3 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 NGS Genetic Test
The primary purpose of the AKT3 NGS Genetic Test is to confirm a clinical diagnosis of Megalencephal...
PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of MPPH syndrome by identifying pathogen...
DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
The purpose of this test is to identify mutations in the DYNC1H1 gene that cause autosomal dominant...
WDR62 Gene Microcephaly with cortical malformations, autosomal recessive type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of WDR62-related microcephaly with corti...
GFM2 Gene Microcephaly with symplified gyral pattern and insulin-dependant diabetes NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of GFM2-related microcephaly with simpli...
TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the TUBGCP6 gene that cau...
IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the IER3IP1 gene that caus...
SLC25A19 Gene Microcephaly, Amish type NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the SLC25A19 gene that c...
KIF11 Gene Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of MCLMR, identify the underlying geneti...
AP4M1 Gene Microcephaly, AP4M1 related NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the AP4M1 gene that are...
MCPH1 Gene Microcephaly, autosomal recessive type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of MCPH1-related microcephaly by identif...
STAC3 Gene Native American myopathy NGS Genetic Test
The purpose of this test is to identify mutations in the STAC3 gene that cause Native American myopa...
SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out Nicolaides-Baraitser Syndrome by detecting pathog...
NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Pitt-Hopkins syndrome by identifyi...
TCF4 Gene Pitt-Hopkins syndrome NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Pitt-Hopkins syndrome in individuals presentin...
STRADA Gene Polyhydramnios, megalencephaly, and symptomatic epilepsy NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the STRADA gene that cause polyhydram...
TUBB2B Gene Polymicrogyria asymmetric NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of asymmetric polymicrogyria by identify...
ADGRG1 Gene Polymicrogyria bilateral frontoparietal NGS Genetic Test
The primary purpose of this test is to identify disease-causing variants in the ADGRG1 gene that are...
TUBA8 Gene Polymicrogyria with optic nerve hypoplasia NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of TUBA8 gene polymicrogyria wit...
NR2E1 Gene Polymicrogyria bilateral occipital NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the NR2E1 gene that are a...
PI4KA Gene Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the PI4KA gene that cause perisylvi...
COL4A1 Gene Porencephaly, familial NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of COL4A1-related porencephaly, identify...
LAMA1 Gene Poretti-Boltshauser syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Poretti-Boltshauser syndrome by ident...
EXT2 Gene Seizures, scoliosis, and macrocephaly syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of EXT2 gene seizures, scoliosis, and...
TANC2 Gene TANC2 related brain disorders NGS Genetic Test
The purpose of this test is to detect mutations in the TANC2 gene that are associated with neurodeve...
KCNH1 Gene Temple-Baraitser syndrome NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Temple-Baraitser...
C12orf57 Gene Temtamy syndrome NGS Genetic Test
The purpose of the C12orf57 gene NGS genetic test is to identify pathogenic mutations in the C12orf5...
RAB3GAP2 Gene Warburg micro syndrome type 2 NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Warburg Micro Syndrome Type 2 by d...
KMT2A Gene Wiedemann-Steiner syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out a clinical diagnosis of Wiedemann-Steiner Syndrom...
Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel
The purpose of this gene panel is to identify the underlying genetic cause in individuals suspected...
Ataxia Gene Panel
The primary purpose of the Ataxia Gene Panel is to identify the underlying genetic cause of ataxia i...
Benign Infantile Epilepsy Gene Panel
The purpose of this gene panel is to identify pathogenic variants in genes known to cause benign inf...
DMD/BMD Mutation Screening (26 Exons)
The primary purpose of DMD/BMD mutation screening is to identify pathogenic variants in the DMD gene...
Dystonia Gene Panel
The purpose of the Dystonia Gene Panel is to detect pathogenic variants in genes associated with her...
DMD/BMD Mutation Screening (26 Exons) [Prenatal]
The purpose of DMD/BMD mutation screening (26 exons) in the prenatal setting is to determine whether...
Early Infantile Epileptic Encephalopathy Gene Panel
The purpose of the EIEE Gene Panel is to identify the underlying genetic cause of early infantile ep...
Hereditary Spastic Paraplegia Gene Panel
The primary purpose of the HSP gene panel is to detect pathogenic variants in genes known to cause h...
MECP2 Full Gene Mutation Analysis (RETT Syndrome)
The purpose of MECP2 Full Gene Mutation Analysis is to confirm or rule out a diagnosis of Rett Syndr...
MPZ Full Length Gene Sequence Analysis (Charcot- Maria-Tooth Disease)
The purpose of this test is to identify pathogenic variants in the MPZ gene that cause Charcot-Marie...
POLG Gene Alper's Syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the POLG gene that cause Alper's synd...
CLN6 Additional Family Members
The purpose of this test is to determine whether additional family members carry the same CLN6 gene...
LGMD NGS Panel
The primary purpose of the LGMD NGS Panel is to identify the specific genetic mutation responsible f...
Limb-Girdle Muscular Dystrophy
The purpose of the LGMD genetic test is to identify pathogenic variants in genes associated with Lim...
Limb-girdle muscular dystrophy (LGMD)
The purpose of this test is to identify pathogenic mutations in genes associated with limb-girdle mu...
GBS Library Preparation
The purpose of GBS Library Preparation is to generate a high-quality genomic library from patient DN...
Autogen Panel Test
The Autogen Panel Test serves multiple purposes, including Chromosome Analysis (Karyotype) to identi...
FISH - Sperm Aneuploidy Test
The purpose of the FISH - Sperm Aneuploidy Test is to detect aneuploidy in sperm cells for chromosom...
Pregnenolone Test
The primary purpose of Preimplantation Genetic Screening (PGS) is to evaluate embryos created throug...
Y-Chromosome Microdeletion Detection PCR Test
The purpose of the Y-Chromosome Microdeletion Detection PCR Test is to diagnose genetic causes of ma...
CATSPER2 Gene Deafness and male infertility, CATSPER2 related NGS Genetic Test
To identify mutations in the CATSPER2 gene that cause deafness and male infertility, enabling diagno...
Pre-Implantation Genetic Screening /PGS (per Embryo)
The purpose of Pre-Implantation Genetic Screening (PGS) is to identify chromosomal abnormalities in...
Y Chromosome Microdeletion (16 Mutations)
To detect deletions in the AZF regions of the Y chromosome that cause male infertility.
AZF region Gene Azoospermia induced by Y chromosome microdeletions NGS Genetic Test
The purpose of this test is to identify microdeletions in the AZF region of the Y chromosome that ca...
NANOS1 Gene Oligo-astheno-teratozoospermia NGS Genetic Test
To identify mutations in the NANOS1 gene associated with oligo-astheno-teratozoospermia, aiding in t...
Cancer Breast Comprehensive Panel Test
The purpose of the Cancer Breast Comprehensive Panel Test is to identify genetic mutations linked to...
Breast comprehensive panel NGS Genetic Test
To identify genetic mutations that increase the risk of developing breast cancer, enabling personali...
BARD1 Gene Breast cancer, susceptibility to NGS Genetic Test
The purpose of this test is to detect mutations in the BARD1 gene that may indicate an increased sus...
Chimerism Post-Engraftment Test
To monitor the success of bone marrow or stem cell transplant by detecting donor and recipient DNA p...
Chimerism Pre-Engraftment Test
To monitor transplant acceptance and prevent rejection before engraftment.
FISH - Opposite Sex BMT (XX / XY) Test
The primary purpose of the FISH Opposite Sex BMT (XX/XY) test is to determine the percentage of dono...
HLA - AB (Class 1) Typing Test
The primary purpose of the HLA-AB Class 1 Typing Test is to assess genetic compatibility for organ a...
HLA - DR & DQB1 (Class II) Typing Test
To identify HLA-DR and DQB1 gene variants for autoimmune disease diagnosis and transplant compatibil...
HLA - DP Typing Test
The primary purpose of the HLA-DP Typing Test is to identify the specific DPA1 and DPB1 alleles of t...
HLA DNA High Resolution Typing - B Locus Test
To determine HLA-B allele compatibility for transplantation and to assist in the diagnosis of autoim...
HLA DNA High Resolution Typing - A Locus Test
The primary purpose of HLA DNA High Resolution Typing - A Locus Test is to determine precise HLA-A a...
HLA DNA High Resolution Typing - DQB1 Locus Test
This test is performed to determine the HLA-DQB1 type for assessing compatibility in organ and bone...
HLA DNA Typing High Resolution by Next Generation Sequencing (NGS) Test
The primary purpose of HLA DNA typing high resolution by NGS is to facilitate solid organ transplant...
HLA A, B, DRB1 [Low Resolution]
The HLA A, B, DRB1 [Low Resolution] test is primarily used to assess compatibility for organ and bon...
VNTR Chimerism Study [PRE BMT]
The purpose of the VNTR Chimerism Study [PRE BMT] is to evaluate the baseline chimerism status befor...
HLA - B15 (B*15) Test
This test detects the HLA-B15 (B*15) allele to assess genetic susceptibility for ankylosing spondyli...
Government Approved Transplant Form 5 DNA Test
The primary purpose of the Transplant Form 5 DNA Test is to determine the genetic compatibility betw...
Chromofic Karyoarray Test
To identify chromosomal abnormalities, such as aneuploidies, deletions, duplications, and other stru...
Chromosome Analysis (Karyotype) Blood Test
The purpose of chromosome analysis is to identify chromosomal abnormalities or disorders, such as an...
Chromosome Analysis (Karyotype) Couple Blood Test
This test is prescribed to identify structural or numerical chromosomal abnormalities, such as balan...
Chromosome Analysis High Resolution Neonatal Test
The primary purpose of the Chromosome Analysis High Resolution Neonatal Test is to identify chromoso...
Chromultra Chromosome SNP HD Microarray Test
The purpose of this test is to detect changes or abnormalities in chromosomes using SNP microarray t...
Fanconi's Anemia Stress Cytogenetics Test
The purpose of the Fanconi's Anemia Stress Cytogenetics Test is to detect chromosomal abnormalities,...
FISH - 22q Deletion or LSI Di George / VCFS Test
To diagnose genetic disorders related to 22q11.2 deletion, such as DiGeorge syndrome and VCFS, enabl...
FISH - Aneuploidy Detection Products of Conception (POC) Using Chromosomes 13, 18, 21, X & Y Test
The primary purpose of FISH testing on products of conception is to determine whether a chromosomal...
FISH - Microdeletion Detection for Williams Syndrome Test
The primary purpose of the FISH - Microdeletion Detection for Williams Syndrome Test is to confirm o...
FISH - Prenatal Screening Panel Chromosomes 13, 18, 21, X & Y Test
To be used as a prenatal screen, in conjunction with full chromosome analysis, to detect aneuploidy...
FISH - Prader-Willi Syndrome / SNRPN Test
The primary purpose of the FISH - Prader-Willi Syndrome / SNRPN Test is to detect deletions in the S...
Chromosomes 18, X & Y
The purpose of Chromosomes 18, X & Y testing is to detect numerical abnormalities in chromosomes 18,...
Cord Blood For Karyotyping
To detect chromosomal abnormalities in newborns for early diagnosis and management of genetic disord...
Fetal Blood For Karyotyping
To detect chromosomal abnormalities in the developing fetus, such as extra or missing chromosomes, o...
Karyotyping for Detection of Fragile X Syndrome
To detect the presence of the fragile X site on the X chromosome, aiding in the diagnosis of Fragile...
Microarray 315K+ Single Karyotyping (AF/CVS/CB/POC/PB)
To detect chromosomal abnormalities, including microdeletions and microduplications, for diagnosis o...
m-FISH
To detect chromosomal rearrangements, deletions, and duplications for diagnosing genetic disorders s...
Microarray 60K (Peripheral Blood/Cord Blood/Fetal Blood) + Karyotyping
The purpose of Microarray 60K and Karyotyping is to diagnose genetic disorders and chromosomal abnor...
Microarray 60K (POC)+ Single Karyotying
The purpose of this test is to detect chromosomal abnormalities, gene duplications, and deletions th...
Peripheral Blood for Karyotyping (Couple)
The purpose of peripheral blood karyotyping for couples is to identify chromosomal abnormalities tha...
Prader-Willi Syndrome (Karyotyping + FISH)
The purpose of this test is to diagnose Prader-Willi Syndrome by detecting genetic abnormalities on...
Di-George Syndrome (FISH)
The purpose of the DiGeorge Syndrome (FISH) test is to detect a microdeletion in the 22q11.2 region...
Di-George Syndrome (Karyotyping+FISH)
The purpose of this test is to confirm or rule out DiGeorge Syndrome by detecting the 22q11.2 deleti...
FISH for X and Y
The primary purpose of the FISH for X and Y test is to identify abnormalities in the number or struc...
Chromosome Analysis Products of Conception Reflex Testing to FISH for Aneuploidy Detection Test
The purpose of this test is to detect aneuploidy in products of conception to determine the genetic...
Chromosome Analysis Cord Blood Test
To identify chromosomal abnormalities in newborns for early diagnosis and management of genetic diso...
Chromotouch Chromosome SNP Microarray Optima Products of Conception Test
The primary purpose of the Chromotouch Chromosome SNP Microarray Optima POC Test is to determine whe...
FISH - Amnio Three Probes: Trisomy 18 X & Y Test
The purpose of this test is to provide rapid prenatal diagnosis for trisomy 18 and sex chromosome ab...
FISH - Amnio Two Probes: Trisomy 13 & 21 Test
To be used as a prenatal screen, in conjunction with full chromosome analysis, to detect aneuploidy...
FISH - SRY Gene Test
The primary purpose of the FISH SRY Gene Test is to detect deletions or abnormalities of the SRY gen...
FISH - Trisomy 21 / Down Syndrome Test
The FISH - Trisomy 21 / Down Syndrome Test is performed to diagnose Down Syndrome in the fetus durin...
Preimplantation Genetic Screening (PGS) Test
This panel tests the following diseases using enzyme assay methodology on chorionic villus biopsy ti...
Prenatal Diagnosis Panel 1 Chorionic Villus Biopsy Test
This assay detects specific sulphate with qualitative analysis of their relative amounts, useful for...
Thalassemia Alpha Trio Prenatal Mutation Detection Test
The purpose of the Thalassemia Alpha Trio Prenatal Mutation Detection Test is to identify alpha thal...
NR1H4 Gene Intrahepatic cholestasis of pregnancy, NR1H4 related NGS Genetic Test
The purpose of the NR1H4 Gene NGS Genetic Test is to identify mutations in the NR1H4 gene associated...
Chromosomes 13, 18, 21, X & Y
The purpose of this test is to identify numerical abnormalities (aneuploidy) in chromosomes 13, 18,...
Microarray 60K (AF/CVS/CB) + Karyotyping + FISH chromosome 13,18,21, X and Y
To detect chromosomal abnormalities and genetic disorders through a combination of Microarray, Karyo...
Microarray 60K (AF/CVS) + Karyotyping
To diagnose chromosomal abnormalities and genetic disorders in prenatal settings, enabling early int...
Microarray 60K (AF/CVS) + Karyotyping + FISH chromosome 21
To diagnose chromosomal abnormalities such as Down syndrome (trisomy 21), other aneuploidies, copy n...
Microarray 60K (AF/CVS/CB)
The purpose of the Microarray 60K (AF/CVS/CB) test is to diagnose genetic disorders and chromosomal...
Microarray 750K (AF/CVS/CB/POC/PB)
The primary purpose of the Microarray 750K test is to identify genetic abnormalities that may be cau...
Prenatal Diagnostic Screening by Karyotyping
To detect chromosomal abnormalities in the fetus, such as aneuploidy or structural defects, for earl...
Prenatal Alpha Thalassemia Mutation Screening (3 Common Mutation)
The purpose of this test is to identify whether a fetus has inherited alpha thalassemia mutations fr...
Prenatal Diagnostic Screening by Karyotyping + FISH (for any one 13, 18, 21, X and Y)
The purpose of this test is to detect chromosomal abnormalities in the fetus, such as trisomy 21 (Do...
QF PCR [Any One Marker]+ Karyotyping
The purpose of QF PCR [Any One Marker]+ Karyotyping is to diagnose genetic conditions by detecting c...
Prenatal Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis)
The purpose of this test is to screen for common mutations causing Hemophilia A in fetuses, enabling...
QF PCR Panel [13,18,21,XY]
The purpose of the QF PCR Panel [13,18,21,XY] is to rapidly and accurately detect common chromosomal...
QF PCR Panel [13,18,21,XY] + Karyotyping
To diagnose chromosomal abnormalities that can cause developmental issues, birth defects, and reprod...
Chromosome Analysis Amniotic Fluid Test
The test is recommended between 15 and 20 weeks of gestation to identify numerical and structural ch...
Chromotouch Chromosome SNP Microarray Optima Prenatal Test
This test is performed to detect fetal chromosomal abnormalities including aneuploidies, microdeleti...
Sickle Cell Anemia Trio Prenatal Mutation Detection Test
The purpose of this test is to detect HBB gene mutations linked to sickle cell anemia in the fetus u...
Beta Thalassemia-HBB Full Gene Analysis (Couple + Prenatal) [Trio Analysis]
The primary purpose of this test is to identify mutations in the HBB gene in both parents and the fe...
Cystic Fibrosis Mutation Screening (CFTR - Del 508)[Prenatal]
The purpose of this prenatal test is to determine whether the fetus has inherited the F508del mutati...
DMD Mutation Screening (79 Exons) [Prenatal]
The primary purpose of this prenatal test is to determine whether the fetus has inherited a pathogen...
Maternal Cell Contamination
The purpose of the Maternal Cell Contamination test is to detect the presence of maternal cells in a...
FISH - Trisomy 13 / Patau Syndrome Test
The primary purpose of the FISH Trisomy 13 test is to confirm or rule out the presence of an extra c...
FISH - Trisomy 18 / Edward Syndrome Test
The primary purpose of the FISH Trisomy 18 test is to confirm or rule out the presence of an extra c...
FISH for Pre or Postnatal Diagnosis Chromosome 13 21
The primary purpose of this FISH test is to detect aneuploidy (abnormal number of chromosomes) for c...
FISH for Pre or Postnatal Diagnosis Chromosome 18, X Y
The primary purpose of this FISH test is to detect numerical abnormalities (aneuploidy) of chromosom...
FISH for Pre or Postnatal Diagnosis Chromosome 13 22
The primary purpose of FISH for chromosomes 13 and 22 is to detect numerical abnormalities (aneuploi...
FISH for Pre or Postnatal Diagnosis Chromosome 13 23
The primary purpose of FISH for chromosomes 13 and 23 is to detect aneuploidies (abnormal number of...
NIPT Advanced for 23 Chromosomes
The primary purpose of the NIPT Advanced for 23 Chromosomes test is to screen for fetal chromosomal...
Maternal Cell Contamination MCC Test
The primary purpose of the MCC test is to verify that a DNA sample collected for genetic analysis is...
Chromosome Interphase Profiling Products of Conception Test
To identify chromosomal abnormalities in products of conception that may have caused a miscarriage,...
Products of Conception (POC) for Karyotyping
The purpose of POC Karyotyping is to determine if chromosomal abnormalities in the fetus contributed...
HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test
The purpose of the HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test is to identify mutations i...
Connexin 30 Mutation Detection Test
To detect mutations in the GJB6 gene that cause connexin 30-related hearing loss for diagnostic and...
Connexin 26 Mutation Detection Test
To detect mutations in the GJB2 gene associated with Connexin 26-related hearing loss, aiding in the...
COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test
To detect mutations in the COL4A3 gene for diagnosing autosomal recessive Alport Syndrome, aiding in...
PLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic Test
To detect pathogenic variants in the PLCB4 gene for definitive diagnosis of Auriculocondylar Syndrom...
EYA1 Gene Branchiootic syndrome type 1 NGS Genetic Test
The purpose of the EYA1 Gene Branchiootic Syndrome Type 1 NGS Genetic Test is to identify mutations...
DIAPH3 Gene Auditory neuropathy, autosomal dominant NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the DIAPH3 gene that cause autosomal...
DIAPH1 Gene Deafness, autosomal dominant type 1 NGS Genetic Test
The purpose of the DIAPH1 Gene Deafness NGS Genetic Test is to diagnose autosomal dominant deafness...
MYO7A Gene Deafness, autosomal dominant type 11 NGS Genetic Test
The purpose of this test is to detect mutations in the MYO7A gene that cause autosomal dominant type...
POU4F3 Gene Deafness, autosomal dominant type 15 NGS Genetic Test
The purpose of this test is to identify mutations in the POU4F3 gene for accurate diagnosis of autos...
COL11A2 Gene Deafness, autosomal dominant type 13 NGS Genetic Test
To diagnose autosomal dominant deafness type 13 (DFNA13) by detecting pathogenic mutations in the CO...
GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic Test
The primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the GJB...
MYH9 Gene Deafness, autosomal dominant type 17 NGS Genetic Test
To identify mutations in the MYH9 gene responsible for autosomal dominant deafness type 17 (DFNA17),...
EYA4 Gene Deafness, autosomal dominant type 10 NGS Genetic Test
To detect mutations in the EYA4 gene associated with autosomal dominant deafness type 10 for diagnos...
TECTA Gene Deafness, autosomal dominant type 12 NGS Genetic Test
The primary purpose of this test is to confirm a molecular diagnosis of autosomal dominant non-syndr...
ACTG1 Gene Deafness, autosomal dominant type 20 NGS Genetic Test
The purpose of this test is to accurately diagnose autosomal dominant type 20 deafness by identifyin...
SIX1 Gene Deafness, autosomal dominant type 23 NGS Genetic Test
The purpose of this test is to detect mutations in the SIX1 gene that cause autosomal dominant type...
MYO6 Gene Deafness, autosomal dominant type 22 NGS Genetic Test
The purpose of this test is to detect mutations in the MYO6 gene that cause autosomal dominant deafn...
KCNQ4 Gene Deafness, autosomal dominant type 2A NGS Genetic Test
The purpose of the KCNQ4 Gene Deafness NGS Genetic Test is to identify mutations in the KCNQ4 gene a...
GJB6 Gene Deafness, autosomal dominant type 3B NGS Genetic Test
The purpose of the GJB6 Gene Deafness NGS Genetic Test is to identify mutations in the GJB6 gene tha...
GRHL2 Gene Deafness, autosomal dominant type 28 NGS Genetic Test
The purpose of the GRHL2 Gene Deafness NGS Genetic Test is to identify pathogenic or likely pathogen...
CRYM Gene Deafness, autosomal dominant type 40 NGS Genetic Test
The purpose of this test is to detect mutations in the CRYM gene to confirm a diagnosis of autosomal...
GJB3 Gene Deafness, autosomal dominant type 2B NGS Genetic Test
To detect pathogenic mutations in the GJB3 gene that cause autosomal dominant deafness type 2B, aidi...
CCDC50 Gene Deafness, autosomal dominant type 44 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the CCDC50 gene that cause autosomal do...
MYH14 Gene Deafness, autosomal dominant type 4 NGS Genetic Test
To identify mutations in the MYH14 gene that cause autosomal dominant deafness type 4, aiding in dia...
TMC1 Gene Deafness, autosomal dominant type 36 NGS Genetic Test
The purpose of the TMC1 Gene Deafness, Autosomal Dominant Type 36 NGS Genetic Test is to identify pa...
SLC17A8 Gene Deafness, autosomal dominant type 25 NGS Genetic Test
The primary purpose of the SLC17A8 Gene Deafness NGS Genetic Test is to identify pathogenic or likel...
MYO1A Gene Deafness, autosomal dominant type 48 NGS Genetic Test
The purpose of the MYO1A Gene Deafness NGS Genetic Test is to identify mutations in the MYO1A gene r...
CEACAM16 Gene Deafness, autosomal dominant type 4B NGS Genetic Test
To diagnose autosomal dominant type 4B deafness caused by CEACAM16 gene mutations, enabling early in...
GSDME Gene Deafness, autosomal dominant type 5 NGS Genetic Test
The purpose of the GSDME Gene Deafness, Autosomal Dominant Type 5 NGS Genetic Test is to identify mu...
DSPP Gene Deafness, autosomal dominant type 39, with dentinogenesis type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the DSPP gene t...
TBC1D24 Gene Deafness, autosomal dominant type 65 NGS Genetic Test
The purpose of this test is to detect mutations in the TBC1D24 gene that cause autosomal dominant de...
DIABLO Gene Deafness, autosomal dominant type 64 NGS Genetic Test
To diagnose DIABLO gene mutations causing autosomal dominant deafness type 64, enabling accurate cli...
GJB3 Gene Deafness, autosomal recessive NGS Genetic Test
To identify mutations in the GJB3 gene that cause autosomal recessive deafness, enabling early diagn...
GJB2 Gene Deafness, autosomal dominant type 3A NGS Genetic Test
The primary purpose of this genetic test is to detect pathogenic mutations in the GJB2 gene that are...
WFS1 Gene Deafness, autosomal dominant type 6 NGS Genetic Test
To identify genetic mutations in the WFS1 gene that cause autosomal dominant type 6 deafness, aiding...
CDH23 Gene Deafness, autosomal recessive type 12 NGS Genetic Test
The purpose of the CDH23 Gene Deafness NGS Genetic Test is to accurately diagnose autosomal recessiv...
POU4F3 Gene Deafness, autosomal dominant type 52 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the POU4F3 gene that cause autosomal d...
GIPC3 Gene Deafness, autosomal recessive type 15 NGS Genetic Test
Getting tested for GIPC3 gene mutations helps confirm a diagnosis of DFNB15, understand the genetic...
SUN1 Gene Deafness, autosomal recessive NGS Genetic Test
To detect pathogenic mutations in the SUN1 gene for the diagnosis of autosomal recessive deafness an...
GJB2 Gene Deafness, autosomal recessive type 1A NGS Genetic Test
To diagnose GJB2 gene-related autosomal recessive deafness through comprehensive NGS analysis, ident...
COCH Gene Deafness, autosomal dominant type 9 NGS Genetic Test
The COCH Gene Deafness DFNA9 NGS Genetic Test is performed to identify pathogenic mutations in the C...
GJB6 Gene Deafness, autosomal recessive type 1B NGS Genetic Test
The purpose of the GJB6 Gene Deafness NGS Genetic Test is to identify pathogenic mutations in the GJ...
OTOA Gene Deafness, autosomal recessive type 22 NGS Genetic Test
To identify mutations in the OTOA gene associated with autosomal recessive deafness type 22 (DFNB22)...
RDX Gene Deafness, autosomal recessive type 24 NGS Genetic Test
The purpose of this test is to diagnose autosomal recessive deafness type 24 by detecting pathogenic...
MYO7A Gene Deafness, autosomal recessive type 2 NGS Genetic Test
To identify mutations in the MYO7A gene that cause autosomal recessive deafness type 2, aiding in ac...
TRIOBP Gene Deafness, autosomal recessive type 28 NGS Genetic Test
To detect mutations in the TRIOBP gene that cause autosomal recessive deafness type 28, aiding in ac...
GRXCR1 Gene Deafness, autosomal recessive type 25 NGS Genetic Test
The purpose of this test is to diagnose GRXCR1 gene deafness by detecting mutations in the GRXCR1 ge...
PCDH15 Gene Deafness, autosomal recessive type 23 NGS Genetic Test
To identify mutations in the PCDH15 gene that cause autosomal recessive deafness type 23, enabling a...
USH1C Gene Deafness, autosomal recessive type 18 NGS Genetic Test
The purpose of the USH1C Gene Deafness NGS Genetic Test is to identify mutations in the USH1C gene t...
STRC Gene Deafness, autosomal recessive type 16 NGS Genetic Test
This test is performed to identify pathogenic mutations in the STRC gene that cause autosomal recess...
MYO15A Gene Deafness, autosomal recessive type 3 NGS Genetic Test
To identify mutations in the MYO15A gene responsible for autosomal recessive deafness type 3, aiding...
CLDN14 Gene Deafness, autosomal recessive type 29 NGS Genetic Test
To identify mutations in the CLDN14 gene that cause autosomal recessive deafness type 29, aiding in...
MYO3A Gene Deafness, autosomal recessive type 30 NGS Genetic Test
To identify mutations in the MYO3A gene responsible for autosomal recessive deafness type 30, enabli...
ESRRB Gene Deafness, autosomal recessive type 35 NGS Genetic Test
The purpose of the ESRRB Gene Deafness (DFNB35) NGS Genetic Test is to identify pathogenic or likely...
GJB2 Gene Knuckle pads and leukonychia sensorineural deafness NGS Genetic Test
To diagnose GJB2 gene mutations causing sensorineural deafness with associated skin findings like kn...
MYH7B Gene Hearing loss, MYH7B related NGS Genetic Test
To detect mutations in the MYH7B gene that cause hereditary hearing loss, aiding in accurate diagnos...
FLNA Gene Otopaladigital syndrome type 1 NGS Genetic Test
The purpose of the FLNA Gene Otopaladigital Syndrome Type 1 NGS Genetic Test is to identify mutation...
SLC26A4 Gene Pendred syndrome NGS Genetic Test
The purpose of the SLC26A4 Gene Pendred Syndrome NGS Genetic Test is to identify mutations in the SL...
MAP1A Gene Hearing loss, MAP1A related NGS Genetic Test
The purpose of the MAP1A Gene Hearing Loss NGS Genetic Test is to detect pathogenic or likely pathog...
TRMU Gene Mitochondrial modifier of deafness NGS Genetic Test
To identify pathogenic mutations in the TRMU gene associated with mitochondrial modifier of deafness...
COL4A6 Gene Deafness, X-linked type 6 NGS Genetic Test
To identify mutations in the COL4A6 gene responsible for X-linked type 6 deafness, aiding in accurat...
Deafness Gene Panel
The purpose of the Deafness Gene Panel test is to identify genetic mutations responsible for hearing...
ESPN Gene Deafness, autosomal recessive type 36 NGS Genetic Test
The purpose of the ESPN Gene Deafness NGS Genetic Test is to confirm a clinical diagnosis of autosom...
HGF Gene Deafness, autosomal recessive type 39 NGS Genetic Test
To diagnose DFNB39 deafness caused by mutations in the HGF gene through advanced genetic sequencing,...
ILDR1 Gene Deafness, autosomal recessive type 42 NGS Genetic Test
The purpose of this test is to identify mutations in the ILDR1 gene that cause autosomal recessive d...
FOXI1 Gene Deafness, autosomal recessive type 4 NGS Genetic Test
To identify mutations in the FOXI1 gene responsible for autosomal recessive deafness type 4, aiding...
CIB2 Gene Deafness, autosomal recessive type 48 NGS Genetic Test
To identify mutations in the CIB2 gene that cause autosomal recessive deafness type 48, aiding in ac...
MARVELD2 Gene Deafness, autosomal recessive type 49 NGS Genetic Test
The purpose of the MARVELD2 Gene Deafness NGS Genetic Test is to identify mutations in the MARVELD2...
COL11A2 Gene Deafness, autosomal recessive type 53 NGS Genetic Test
To diagnose COL11A2 gene mutations causing autosomal recessive deafness, enabling accurate clinical...
PJVK Gene Deafness, autosomal recessive type 59 NGS Genetic Test
To detect mutations in the PJVK gene associated with autosomal recessive deafness type 59 for accura...
SLC26A5 Gene Deafness, autosomal recessive type 61 NGS Genetic Test
To detect pathogenic mutations in the SLC26A5 gene using next-generation sequencing for the diagnosi...
TMIE Gene Deafness, autosomal recessive type 6 NGS Genetic Test
The purpose of this test is to detect mutations in the TMIE gene that cause autosomal recessive deaf...
LRTOMT Gene Deafness, autosomal recessive type 63 NGS Genetic Test
To identify mutations in the LRTOMT gene responsible for autosomal recessive deafness type 63, aidin...
LHFPL5 Gene Deafness, autosomal recessive type 67 NGS Genetic Test
The purpose of this test is to identify mutations in the LHFPL5 gene using NGS technology for the di...
MSRB3 Gene Deafness, autosomal recessive type 74 NGS Genetic Test
The purpose of the MSRB3 Gene Deafness NGS Genetic Test is to detect pathogenic mutations in the MSR...
PNPT1 Gene Deafness, autosomal recessive type 70 NGS Genetic Test
The purpose of the PNPT1 Gene Deafness NGS Genetic Test is to accurately diagnose mutations in the P...
SYNE4 Gene Deafness, autosomal recessive type 76 NGS Genetic Test
The purpose of the SYNE4 Gene Deafness NGS Genetic Test is to detect mutations in the SYNE4 gene tha...
TMC1 Gene Deafness, autosomal recessive type 7 NGS Genetic Test
The purpose of this test is to diagnose mutations in the TMC1 gene that cause autosomal recessive de...
TMPRSS3 Gene Deafness, autosomal recessive type 8/10 NGS Genetic Test
To detect pathogenic mutations in the TMPRSS3 gene that cause autosomal recessive type 8/10 deafness...
DCDC2 Gene Deafness, autosomal recessive type 66 NGS Genetic Test
To identify pathogenic mutations in the DCDC2 gene associated with autosomal recessive deafness type...
TPRN Gene Deafness, autosomal recessive type 79 NGS Genetic Test
This test helps diagnose TPRN gene-related deafness, providing genetic information for treatment, ma...
TBC1D24 Gene Deafness, autosomal recessive type 86 NGS Genetic Test
The purpose of the TBC1D24 Gene Deafness NGS Genetic Test is to diagnose autosomal recessive type 86...
KARS1 Gene Deafness, autosomal recessive type 89 NGS Genetic Test
The purpose of this test is to identify mutations in the KARS1 gene that cause autosomal recessive d...
OTOF Gene Deafness, autosomal recessive type 9 NGS Genetic Test
To identify mutations in the OTOF gene that cause autosomal recessive deafness type 9, aiding in dia...
SERPINB6 Gene Deafness, autosomal recessive type 91 NGS Genetic Test
The purpose of the SERPINB6 Gene Deafness NGS Genetic Test is to identify mutations in the SERPINB6...
FGF3 Gene Deafness, congenital with inner ear agenesis, microtia, and microdontia NGS Genetic Test
The purpose of this test is to diagnose FGF3 gene mutations responsible for congenital deafness with...
CABP2 Gene Deafness, autosomal recessive type 93 NGS Genetic Test
To diagnose autosomal recessive deafness type 93 caused by mutations in the CABP2 gene, enabling acc...
MT-RNR1 Gene Deafness, nonsyndromic, sensorineural, mitochondrial NGS Genetic Test
To identify pathogenic mutations in the MT-RNR1 gene associated with nonsyndromic sensorineural deaf...
PRPS1 Gene Deafness, X-linked type 1 NGS Genetic Test
To identify mutations in the PRPS1 gene that cause X-linked deafness type 1, aiding in diagnosis, ge...
POU3F4 Gene Deafness, X-linked type 2 NGS Genetic Test
To detect mutations in the POU3F4 gene for definitive diagnosis of X-linked type 2 deafness, enablin...
SMPX Gene Deafness, X-linked type 4 NGS Genetic Test
The purpose of the SMPX Gene Deafness NGS Genetic Test is to identify mutations in the SMPX gene tha...
AIFM1 Gene Deafness, X-linked type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the AIFM1 gene that cause X-linked type 5 deafnes...
DNAAF2 Gene Primary ciliary dyskinesia type 10 NGS Genetic Test
To detect mutations in the DNAAF2 gene for diagnosis of primary ciliary dyskinesia type 10.
CCDC40 Gene Primary ciliary dyskinesia type 15 NGS Genetic Test
The purpose of this test is to diagnose Primary Ciliary Dyskinesia Type 15 by detecting pathogenic m...
DNAAF5 Gene Primary ciliary dyskinesia type 18 NGS Genetic Test
The purpose of this test is to identify mutations in the DNAAF5 gene that cause Primary Ciliary Dysk...
CCNO Gene Primary ciliary dyskinesia type 29 NGS Genetic Test
The purpose of this test is to detect mutations in the CCNO gene and other genes associated with Pri...
NME8 Gene Primary ciliary dyskinesia type 6 NGS Genetic Test
To diagnose Primary Ciliary Dyskinesia Type 6 by identifying mutations in the NME8 gene using NGS te...
DNAI2 Gene Primary ciliary dyskinesia type 9 NGS Genetic Test
To identify pathogenic mutations in the DNAI2 gene for the diagnosis of primary ciliary dyskinesia t...
DNAH9 Gene Primary ciliary dyskinesia, DNAH9 related NGS Genetic Test
The purpose of the DNAH9 Gene NGS Genetic Test is to detect mutations in the DNAH9 gene associated w...
P2RX2 Gene Progressive hearing loss NGS Genetic Test
To identify genetic mutations in the P2RX2 gene that cause progressive hearing loss, aiding in diagn...
SLC26A4 Gene Pendred syndrome NGS Genetic Test
To detect mutations in the SLC26A4 gene for the diagnosis of Pendred syndrome.
Vertebrate Genome De Novo Assembly and Annotation-Illumina
The purpose of vertebrate genome de novo assembly and annotation is to generate a complete and accur...
RNA Extraction from Cultured Cells
The primary purpose of RNA extraction from cultured cells is to obtain pure, intact RNA for various...
RNA Extraction from Bacteria
The primary purpose of RNA extraction from bacteria is to obtain pure, intact RNA for downstream mol...
Factor V Leiden Mutation Analysis Test
The purpose of the Factor V Leiden Mutation Analysis Test is to identify genetic mutations in the Fa...
FIP1L1-PGDFRA Gene Rearrangement Detection Test
The purpose of this test is to detect the FIP1L1-PGDFRA gene rearrangement to confirm diagnosis of h...
G-6-PD Quantitative Test
This assay is specifically useful for the evaluation of individuals with Coombs-negative non-spheroc...
MPL (Myeloproliferative Leukemia) Gene Mutation Test
To detect mutations in the MPL gene for the diagnosis of myeloproliferative neoplasms and related bl...
Thalassemia Alpha Mutation Analysis Test
The primary purpose of the Thalassemia Alpha Mutation Analysis Test is to detect specific mutations...
Thalassemia Profile Test
The primary purpose of the Thalassemia Profile Test is to identify carriers of thalassemia (thalasse...
CDAN1 Gene Anemia dyserythropoietic type 1A NGS Genetic Test
To identify pathogenic mutations in the CDAN1 gene for the diagnosis of Congenital Dyserythropoietic...
F8 Gene Hemophilia A NGS Genetic Test
To detect mutations in the F8 gene that cause hemophilia A, aiding in diagnosis, carrier testing, an...
MYH9 Gene Epstein syndrome NGS Genetic Test
To diagnose Epstein Syndrome by detecting mutations in the MYH9 gene using NGS technology, aiding in...
SLC4A1 Gene Ovalocytosis NGS Genetic Test
To identify pathogenic mutations in the SLC4A1 gene associated with ovalocytosis, aiding in diagnosi...
ACTN1 Gene Bleeding disorder, platelet-type 15 NGS Genetic Test
To diagnose ACTN1 gene bleeding disorder, platelet-type 15 using advanced NGS technology, enabling a...
RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic Test
The purpose of this test is to diagnose Diamond-Blackfan Anemia Type 15 caused by pathogenic variant...
HBB Gene Delta-beta thalassemia NGS Genetic Test
The purpose of this test is to diagnose Delta-beta thalassemia by detecting pathogenic mutations in...
HBG2 Gene Cyanosis, transient neonatal NGS Genetic Test
The purpose of this test is to identify mutations in the HBG2 gene that cause transient neonatal cya...
RPL26 Gene Diamond-Blackfan anemia type 11 NGS Genetic Test
To diagnose Diamond-Blackfan anemia type 11 by identifying mutations in the RPL26 gene using NGS tec...
HP Gene Anhaptoglobinemia NGS Genetic Test
The purpose of the HP Gene Anhaptoglobinemia NGS Genetic Test is to diagnose anhaptoglobinemia by de...
RPS19 Gene Diamond-Blackfan anemia type 1 NGS Genetic Test
To diagnose Diamond-Blackfan anemia type 1 by identifying mutations in the RPS19 gene and to identif...
RPS24 Gene Diamond-blackfan anemia type 3 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the RPS24 gene responsible for Diamo...
EPAS1 Gene Erythrocytosis, familial type 4 NGS Genetic Test
TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic Test
To confirm the diagnosis of Diamond-Blackfan anemia type 14 caused by TSR2 gene mutations, especiall...
RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic Test
The purpose of the RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic Test is to detect mutations...
F2 Gene Dysprothrombinemia NGS Genetic Test
The purpose of the F2 Gene Dysprothrombinemia NGS Genetic Test is to detect mutations in the F2 gene...
C15orf41 Gene Dyserythropoietic anemia, congenital, type 1B NGS Genetic Test
To diagnose C15orf41 gene mutations causing congenital dyserythropoietic anemia type 1B through next...
F10 Gene Factor X deficiency NGS Genetic Test
To diagnose Factor X deficiency by detecting mutations in the F10 gene using NGS technology, providi...
EGLN1 Gene Erythrocytosis, familial type 3 NGS Genetic Test
The purpose of the EGLN1 Gene Erythrocytosis, Familial Type 3 NGS Genetic Test is to detect mutation...
EPOR Gene Erythrocytosis, familial type 1 NGS Genetic Test
To diagnose familial erythrocytosis type 1 by identifying mutations in the EPOR gene using Next Gene...
KIF23 Gene Dyserythropoietic anemia, congenital, type 3 NGS Genetic Test
To diagnose dyserythropoietic anemia, congenital, type 3 by detecting mutations in the KIF23 gene us...
G6PD Gene Favism, susceptibility to NGS Genetic Test
The purpose of the G6PD Gene Favism NGS Genetic Test is to identify mutations in the G6PD gene that...
KLF1 Gene Dyserythropoietic anemia, congenital, type 4 NGS Genetic Test
To confirm the diagnosis of Congenital Dyserythropoietic Anemia Type IV (CDA IV) by identifying muta...
NCF2 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 NGS Genetic Test
To diagnose Chronic Granulomatous Disease type 2 by detecting mutations in the NCF2 gene using NGS t...
CYCS Gene Thrombocytopenia type 4 NGS Genetic Test
To diagnose CYCS Gene Thrombocytopenia Type 4 by detecting mutations in the CYCS gene using NGS tech...
ITGB3 Gene Thrombocytopenia, neonatal alloimmune NGS Genetic Test
To identify pathogenic mutations in the ITGB3 gene responsible for thrombocytopenia, enabling accura...
ETV6 Gene Thrombocytopenia type 5 NGS Genetic Test
The primary purpose of the ETV6 Gene Thrombocytopenia Type 5 NGS Genetic Test is to identify pathoge...
F9 Gene Thrombophilia, X-linked, due to factor IX defect NGS Genetic Test
The purpose of the F9 Gene Thrombophilia NGS Genetic Test is to diagnose genetic mutations in the F9...
ANKRD26 Gene Thrombocytopenia type 2 NGS Genetic Test
The purpose of the ANKRD26 Gene Thrombocytopenia Type 2 NGS Genetic Test is to identify mutations in...
GGCX Gene Vitamin K-dependent clotting factors combined deficiency type 1 NGS Genetic Test
The purpose of this test is to diagnose GGCX gene mutations responsible for vitamin K-dependent clot...
ADAMTS13 Gene Thrombotic thrombocytopenic purpura NGS Genetic Test
The purpose of the ADAMTS13 Gene NGS Genetic Test is to identify mutations in the ADAMTS13 gene that...
JAK2 Gene Thrombocytosis, familial, JAK2 related NGS Genetic Test
The purpose of the JAK2 Gene Thrombocytosis NGS Genetic Test is to detect mutations in the JAK2 gene...
ITGA2B Gene Thrombocytopenia, neonatal alloimmune NGS Genetic Test
To identify mutations in the ITGA2B gene that cause neonatal alloimmune thrombocytopenia, facilitati...
GATA1 Gene Thrombocytopenia, X-linked NGS Genetic Test
To diagnose GATA1 Gene Thrombocytopenia, X-linked through genetic analysis, enabling early intervent...
F2 Gene Thrombophilia due to thrombin defect NGS Genetic Test
The purpose of this test is to diagnose genetic thrombophilia caused by F2 gene mutations, assess th...
WAS Gene Thrombocytopenia, X-linked, intermittent NGS Genetic Test
To identify mutations in the WAS gene for diagnosis of X-linked thrombocytopenia and guide treatment...
TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic Test
The purpose of the TBXAS1 Gene Thromboxane Synthase Deficiency NGS Genetic Test is to identify mutat...
TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic Test
The purpose of this test is to diagnose Diamond-Blackfan Anemia Type 14 caused by TSR2 gene mutation...
CALR Gene CALR, selective sequencing of exon 9 NGS Genetic Test
To detect mutations in exon 9 of the CALR gene, which are associated with myeloproliferative neoplas...
MPL Gene MPL, selective sequencing of exon 10 NGS Genetic Test
To identify mutations in the MPL gene, particularly in exon 10, for the diagnosis of blood disorders...
Alpha Thalassemia Mutation Screening (3 Common Mutations)
To screen for three common mutations in the alpha thalassemia genes (HBA1 and HBA2) to identify carr...
Bone Marrow for Karyotyping
Bone marrow karyotyping is used to detect genetic abnormalities, diagnose blood cancers like leukemi...
CALR Mutation Analysis (Deletion or Insertion in Exon 9)
The purpose of CALR Mutation Analysis is to diagnose CALR gene mutations associated with myeloprolif...
Bone Marrow Failure Syndrome
The purpose of the Bone Marrow Failure Syndrome genetic test is to identify inherited genetic mutati...
CLL Panel (Cytogenetics + FISH [del(11q), trisomy 12, del(13q), del(17p)])
The CLL Panel test is designed to detect genetic abnormalities associated with Chronic Lymphocytic L...
Extended AML Panel (BCR/ABL,AML/ETO, CBFB, PML/RARA, FLT3, NPM1, CEBPA)
The purpose of the Extended AML Panel is to detect genetic mutations in genes such as BCR/ABL, AML/E...
Erythropoietin Receptor Gene Mutation Analysis
The purpose of Erythropoietin Receptor Gene Mutation Analysis is to detect genetic variations in the...
Haemophilia A & B Gene Panel
The purpose of the Haemophilia A & B Gene Panel is to diagnose haemophilia A and B by detecting muta...
JAK2 Gene (V617F) Quantitative
To diagnose polycythemia vera and other myeloproliferative neoplasms by detecting and quantifying th...
Jak 2 Mutation Detection Panel (Exons 12)
The purpose of the JAK2 Mutation Detection Panel (Exons 12) test is to detect mutations in the JAK2...
Jak 2 Mutation Detection Panel (Exons 12-15)
The purpose of the Jak 2 Mutation Detection Panel (Exons 12-15) is to detect genetic mutations in th...
Myeloproliferative Neoplasia (MPN) Panel (BCR QLT,JAK2 PANEL,CALR, MPL)
The purpose of the MPN Panel test is to identify specific genetic mutations (BCR-ABL1, JAK2, CALR, M...
NPM1+ CEBPA
The purpose of the NPM1+ CEBPA test is to identify genetic mutations in the NPM1 and CEBPA genes, wh...
NPM1+FLT3
To detect mutations in NPM1 and FLT3 genes for diagnosis, prognosis assessment, and treatment planni...
RUNX1-RUNX1T1 (AML1- ETO) t(8;21) Qualitative
The purpose of the RUNX1-RUNX1T1 (AML1-ETO) t(8;21) qualitative test is to detect the presence of th...
Sickle Cell Disease Mutation Screening
The purpose of this test is to identify mutations in the HBB gene that cause Sickle Cell Disease, en...
Beta-Globin Quantitative Test
To diagnose and monitor genetic blood disorders such as sickle cell anemia and thalassemia by measur...
Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis)
The purpose of this test is to screen for the most common genetic mutations (inversions in Intron 22...
F5 Gene Budd-Chiari Syndrome NGS Genetic Test
The purpose of this genetic test is to detect F5 gene mutations that increase the risk of blood clot...
SBDS Gene Aplastic anemia, SBDS related NGS Genetic Test
To identify mutations in the SBDS gene for diagnosing Shwachman-Diamond syndrome and assessing the r...
PRF1 Gene Aplastic anemia NGS Genetic Test
To detect pathogenic mutations in the PRF1 gene associated with aplastic anemia and related immune d...
FANCF Gene Fanconi anemia type F NGS Genetic Test
The primary purpose of the FANCF Gene Fanconi Anemia Type F NGS Genetic Test is to detect mutations...
HAMP Gene Hemochromatosis type 2B NGS Genetic Test
The purpose of the HAMP Gene Hemochromatosis type 2B NGS Genetic Test is to diagnose hemochromatosis...
GPI Gene Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NGS Genetic Test
The purpose of this test is to diagnose glucose phosphate isomerase deficiency by identifying pathog...
G6PD Gene Hemolytic anemia due to G6PD deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the G6PD gene using NGS technology,...
CD59 Gene Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy NGS Genetic Test
The purpose of this test is to identify mutations in the CD59 gene that cause CD59-mediated hemolyti...
GFI1 Gene Neutropenia, nonimmune chronic idiopathic, of adults NGS Genetic Test
To identify mutations in the GFI1 gene for diagnosing nonimmune chronic idiopathic neutropenia in ad...
GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NGS Genetic Test
To identify pathogenic variants in the GGCX gene for accurate diagnosis of Pseudoxanthoma elasticum-...
GP1BA Gene Bernard Soulier syndrome type A1 NGS Genetic Test
The purpose of the GP1BA Gene Bernard Soulier Syndrome Type A1 NGS Genetic Test is to identify patho...
GP1BB Gene Bernard Soulier syndrome type B NGS Genetic Test
To confirm a suspected diagnosis of Bernard-Soulier syndrome type B, identify carriers of GP1BB gene...
GP9 Gene Bernard Soulier syndrome type C NGS Genetic Test
To diagnose Bernard Soulier Syndrome Type C by analyzing GP9 gene mutations using NGS technology, ai...
F2 Gene Factor II deficiency NGS Genetic Test
The purpose of this test is to diagnose Factor II deficiency by identifying mutations in the F2 gene...
F7 Gene Factor VII deficiency NGS Genetic Test
To identify mutations in the F7 gene causing Factor VII deficiency for diagnosis and management.
FGA Gene Afibrinogenemia, congenital NGS Genetic Test
To identify mutations in the FGA gene that cause congenital afibrinogenemia, aiding in definitive di...
FGB Gene Afibrinogenemia, congenital NGS Genetic Test
To detect mutations in the FGB gene that cause congenital afibrinogenemia, enabling accurate diagnos...
FGG Gene Afibrinogenemia, congenital NGS Genetic Test
The purpose of the FGG Gene Afibrinogenemia NGS Genetic Test is to identify mutations in the FGG gen...
PKLR Gene Adenosine triphosphate, elevated, of erythrocytes NGS Genetic Test
The purpose of the PKLR Gene NGS Genetic Test is to identify mutations in the PKLR gene that cause p...
IGLL1 Gene Agammaglobulinemia type 2, autosomal recessive NGS Genetic Test
To identify mutations in the IGLL1 gene for accurate diagnosis of Agammaglobulinemia Type 2, autosom...
BTK Gene Agammaglobulinemia type 1, X-linked NGS Genetic Test
The purpose of the BTK Gene NGS Genetic Test is to diagnose X-linked agammaglobulinemia by identifyi...
PIK3R1 Gene Agammaglobulinemia type 7, autosomal recessive NGS Genetic Test
To diagnose Agammaglobulinemia Type 7 by detecting mutations in the PIK3R1 gene using Next Generatio...
SPTB Gene Anemia, neonatal hemolytic, fatal and near-fatal NGS Genetic Test
To diagnose mutations in the SPTB gene that cause neonatal hemolytic anemia, enabling early treatmen...
ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test
The purpose of the ATRX Gene NGS Genetic Test is to diagnose Alpha-thalassemia/mental retardation sy...
SLC25A38 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive NGS Genetic Test
The purpose of this test is to diagnose SLC25A38 gene anemia by detecting mutations in the SLC25A38...
ABCB7 Gene Anemia, sideroblastic, with ataxia NGS Genetic Test
To diagnose ABCB7 gene mutations causing sideroblastic anemia with ataxia, guide treatment, and prov...
ALAS2 Gene Anemia, sideroblastic, X-linked NGS Genetic Test
The purpose of the ALAS2 Gene Anemia NGS Genetic Test is to diagnose X-linked sideroblastic anemia b...
RPL11 Gene Diamond-Blackfan anemia type 7 NGS Genetic Test
To diagnose Diamond-Blackfan anemia type 7 by detecting mutations in the RPL11 gene using next-gener...
RPS7 Gene Diamond-Blackfan anemia type 8 NGS Genetic Test
To diagnose Diamond-Blackfan Anemia Type 8 by detecting mutations in the RPS7 gene using next-genera...
RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic Test
The purpose of the RPL5 Gene Diamond-Blackfan Anemia Type 6 NGS Genetic Test is to identify pathogen...
CYBB Gene Granulomatous disease, chronic, X-linked NGS Genetic Test
To identify mutations in the CYBB gene associated with X-linked chronic granulomatous disease for ac...
G6PD Gene Hemolytic anemia due to G6PD deficiency NGS Genetic Test
The purpose of this test is to identify mutations in the G6PD gene that cause enzyme deficiency, lea...
TPI1 Gene Hemolytic anemia due to triosephosphate isomerase deficiency NGS Genetic Test
The purpose of the TPI1 Gene Hemolytic Anemia NGS Genetic Test is to diagnose triosephosphate isomer...
CD59 Gene Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy NGS Genetic Test
The purpose of the CD59 Gene NGS Genetic Test is to identify mutations in the CD59 gene that may lea...
F9 Gene Hemophilia B NGS Genetic Test
To diagnose Hemophilia B by detecting mutations in the F9 gene, identify carriers, guide treatment d...
KEL Gene Hemolytic anemia, Kell-system related NGS Genetic Test
To diagnose KEL gene hemolytic anemia and other Kell-system related disorders by identifying mutatio...
GPI Gene Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NGS Genetic Test
The purpose of this test is to diagnose glucose phosphate isomerase deficiency by detecting mutation...
HBG2 Gene Hereditary persistence of fetal hemoglobin NGS Genetic Test
To diagnose Hereditary Persistence of Fetal Hemoglobin (HPFH) by identifying mutations in the HBG2 g...
LARS2 Gene Hydrops, lactic acidosis, and sideroblastic anemia NGS Genetic Test
To identify pathogenic mutations in the LARS2 gene for accurate diagnosis of hydrops, lactic acidosi...
CBLIF Gene Intrinsic factor deficiency NGS Genetic Test
The purpose of this test is to identify genetic mutations in the CBLIF gene that lead to intrinsic f...
TMPRSS6 Gene Iron-refractory iron deficiency anemia NGS Genetic Test
To diagnose Iron-refractory iron deficiency anemia (IRIDA) by identifying mutations in the TMPRSS6 g...
FERMT3 Gene Leukocyte adhesion deficiency type 3 NGS Genetic Test
The purpose of this test is to identify mutations in the FERMT3 gene that cause Leukocyte Adhesion D...
TERT Gene Leukemia, acute myeloid form, susceptible due to TERT germline mutation NGS Genetic Test
To detect germline mutations in the TERT gene that confer susceptibility to Acute Myeloid Leukemia (...
ITK Gene Lymphoproliferative syndrome type 1 NGS Genetic Test
The purpose of the ITK Gene Lymphoproliferative Syndrome Type 1 NGS Genetic Test is to identify muta...
KLF1 Gene Lutheran inhibitor blood group NGS Genetic Test
The purpose of this test is to diagnose genetic mutations in the KLF1 gene that affect the Lutheran...
AMN Gene Megaloblastic anemia type 1 NGS Genetic Test
To diagnose AMN Gene Megaloblastic Anemia Type 1 by identifying mutations in the AMN gene using NGS...
CYB5R3 Gene Methemoglobinemia type 1 NGS Genetic Test
To diagnose CYB5R3 gene mutations causing Methemoglobinemia Type 1, confirm hereditary basis, guide...
HAX1 Gene Neutropenia, severe congenital type 3 NGS Genetic Test
To identify mutations in the HAX1 gene for diagnosis of severe congenital neutropenia type 3, guidin...
ELANE Gene Neutropenia, severe congenital type 1 NGS Genetic Test
The purpose of the ELANE Gene Neutropenia NGS Genetic Test is to identify mutations in the ELANE gen...
VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive NGS Genetic Test
The purpose of the VPS45 Gene Neutropenia Test is to confirm the genetic diagnosis of severe congeni...
PEAR1 Gene Platelet aggregation disorder NGS Genetic Test
To identify mutations or abnormalities in the PEAR1 gene that cause platelet aggregation disorders,...
CSF3R Gene Neutrophilia, hereditary NGS Genetic Test
To identify pathogenic variants in the CSF3R gene associated with hereditary neutrophilia, aiding in...
RUNX1 Gene Platelet disorder with associated myeloid malignancy NGS Genetic Test
To diagnose RUNX1 gene platelet disorder with associated myeloid malignancy using NGS technology, en...
ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic Test
The purpose of the ALAS2 Gene Protoporphyria NGS Genetic Test is to identify mutations in the ALAS2...
CD36 Gene Platelet glycoprotein IV deficiency NGS Genetic Test
To detect mutations in the CD36 gene that cause Platelet Glycoprotein IV Deficiency, aiding in diagn...
SBDS Gene Shwachman-Diamond syndrome NGS Genetic Test
The purpose of the SBDS Gene Shwachman-Diamond Syndrome NGS Genetic Test is to identify pathogenic m...
HBB Gene Sickle cell anemia NGS Genetic Test
The purpose of this test is to detect mutations in the HBB gene associated with sickle cell anemia f...
SPTB Gene Spherocytosis type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the SPTB gene to confirm a diagnosis of Spherocyt...
SPTA1 Gene Spherocytosis type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the SPTA1 gene associated with hereditary spheroc...
STIM1 Gene Stormorken syndrome NGS Genetic Test
To diagnose Stormorken syndrome by identifying pathogenic mutations in the STIM1 gene using Next-Gen...
HBD Gene Thalassemia, delta NGS Genetic Test
The purpose of the HBD Gene Thalassemia delta NGS Genetic Test is to identify mutations in the HBD g...
GP1BA Gene von Willebrand disease platelet type NGS Genetic Test
To accurately diagnose von Willebrand disease platelet type by identifying mutations in the GP1BA ge...
MPL Gene Thrombocytopenia congenital amegakaryocytic NGS Genetic Test
To identify mutations in the MPL gene causing congenital amegakaryocytic thrombocytopenia, enabling...
SLC19A2 Gene Thiamine-responsive megaloblastic anemia syndrome NGS Genetic Test
To diagnose Thiamine-responsive megaloblastic anemia syndrome by detecting mutations in the SLC19A2...
ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test
The purpose of the ERCC6L2 Gene NGS Genetic Test is to identify mutations in the ERCC6L2 gene associ...
LBR Gene Pelger-Huet anomaly NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the LBR gene that cause Pelger-Huet A...
JAK2 Gene Thrombocythemia type 3, somatic NGS Genetic Test
The purpose of this test is to detect somatic mutations in the JAK2 gene that are associated with es...
Beta Thalassemia -12 Common Mutations Screening (Single)
The primary purpose of this test is to identify carriers of beta thalassemia by detecting 12 common...
Beta Thalassemia-HBB Deletion/Duplication Analysis
The purpose of this test is to detect copy number variations (deletions or duplications) in the HBB...
Beta Thalassemia-9 Common Mutations Screening (Single)
The purpose of this test is to identify the presence of nine common beta thalassemia mutations in th...
Beta Thalassemia-HBB Full Gene Analysis (Single)
The primary purpose of the Beta Thalassemia-HBB Full Gene Analysis is to identify pathogenic variant...
GATA2 Full-Length Gene Sequencing (Chronic Neutropenia, MonoMac Syndrome, Mylodysplasia, AML)
The purpose of GATA2 Full-Length Gene Sequencing is to identify mutations in the GATA2 gene that cau...
Hemoglobin D Punjab(HbD) Mutation Study
The purpose of the Hemoglobin D Punjab mutation study is to detect the presence of the HbD mutation...
Jak-2 Mutation Detection (RNA Detection) Qualitative Test
The primary purpose of the JAK2 Mutation Detection (RNA) Qualitative Test is to aid in the diagnosis...
Alpha Thalassemia Gene Analysis HBA1
The purpose of this test is to identify pathogenic variants in the HBA1 and HBA2 genes that cause al...
Alpha Thalassemia HBA1
The primary purpose of the HBA1-HBA2 deletion/duplication analysis is to detect copy number changes...
FISH - 11q23 or LSI MLL Gene Breakapart Test
To detect MLL gene rearrangements for diagnosing and prognosing leukemia and lymphoma, guiding treat...
FISH - Aggressive Lymphoma Panel Test
The purpose of the FISH - Aggressive Lymphoma Panel Test is to detect specific genetic rearrangement...
ZBTB16 Gene Leukemia, acute promyelocytic, PL2F/RARA type NGS Genetic Test
To detect mutations in the ZBTB16 gene and identify the PL2F/RARA fusion protein for the diagnosis a...
FISH - Postnatal Gender Confirmation Test
For evaluating ambiguous genitalia, gender reversal cases, and confirming gender in newborns.
Microarray 60K (POC) + Couple Karyotyping
To diagnose genetic disorders, identify chromosomal abnormalities in couples, and assess causes of i...
Peripheral Blood for High Resolution Couple Karyotyping
The purpose of this test is to detect chromosomal abnormalities in couples experiencing infertility...
Pre-Implantation Genetic Disorder/PGD (Single Embryo)
To check for genetic abnormalities in embryos before implantation during IVF, reducing the risk of p...
Pre-Implantation Genetic Disorder/PGD (Single Embryo) with Maternal DNA Contamination Check
To identify genetic abnormalities in embryos before implantation, reducing the risk of genetic disor...
Pre-Implantation Genetic Disorder/PGD (Single Gene Disorder- Known Mutation)- Baseline
The purpose of PGD for single gene disorders with known mutations is to identify embryos that carry...
Pre-Implantation Genetic Disorder/PGD HLA Typing (Single Embryo)
The purpose of PGD HLA Typing is to identify genetic abnormalities and determine the HLA type of emb...
X & Y Identification Test
The purpose of the X & Y Identification Test is to accurately determine the chromosomal sex of an in...
FMR1 Gene Premature ovarian failure type 1 NGS Genetic Test
To identify mutations in the FMR1 gene that cause premature ovarian failure type 1, enabling accurat...
Infertility panel NGS Genetic Test
The purpose of the Infertility Panel NGS Genetic Test is to diagnose genetic causes of infertility b...
SRY Gene 46,XX sex reversal type 1 NGS Genetic Test
To diagnose mutations in the SRY gene that cause 46,XX sex reversal type 1, aiding in the identifica...
CYP19A1 Gene Aromatase deficiency NGS Genetic Test
To diagnose Aromatase Deficiency by identifying mutations in the CYP19A1 gene, aiding in early manag...
CFTR Gene Congenital bilateral absence of vas deferens NGS Genetic Test
To identify mutations in the CFTR gene that cause Congenital Bilateral Absence of Vas Deferens, aidi...
RXFP2 Gene Cryptorchidism NGS Genetic Test
To diagnose cryptorchidism and identify mutations in the RXFP2 gene, enabling early intervention and...
STRC Gene Deafness and male infertility NGS Genetic Test
To diagnose mutations in the STRC gene associated with deafness and male infertility, enabling early...
FOXF2 Gene Disorders of sex development with cleft palate NGS Genetic Test
To diagnose Disorders of Sex Development with Cleft Palate caused by mutations in the FOXF2 gene usi...
CATSPER2 Gene Deafness and male infertility, CATSPER2 related NGS Genetic Test
To identify mutations in the CATSPER2 gene for the diagnosis of CATSPER2-related deafness and male i...
NLRP7 Gene Hydatidiform mole NGS Genetic Test
The purpose of this test is to diagnose hydatidiform mole and related reproductive disorders by dete...
KHDC3L Gene Hydatidiform mole, recurrent, type 2 NGS Genetic Test
The purpose of the KHDC3L Gene NGS Genetic Test is to identify mutations in the KHDC3L gene that may...
KISS1 Gene Hypogonadotropic hypogonadism NGS Genetic Test
To diagnose KISS1 gene mutations causing hypogonadotropic hypogonadism, enabling early intervention,...
NSMF Gene Hypogonadotropic hypogonadism NGS Genetic Test
The purpose of this test is to diagnose Hypogonadotropic Hypogonadism by detecting mutations in the...
FGF8 Gene Hypogonadotropic hypogonadism type 6 with or without anosmia NGS Genetic Test
The purpose of the FGF8 Gene Hypogonadotropic Hypogonadism Type 6 NGS Genetic Test is to identify mu...
AR Gene Hypospadias type 1, X-linked NGS Genetic Test
The purpose of the AR Gene Hypospadias Type 1 NGS Genetic Test is to identify mutations in the AR ge...
WDR11 Gene Hypogonadtropic hypogonadism type 14 NGS Genetic Test
To identify mutations in the WDR11 gene for the diagnosis of hypogonadotropic hypogonadism type 14,...
MAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic Test
To detect mutations in the MAMLD1 gene associated with hypospadias type 2 for diagnosis, genetic cou...
ZP1 Gene Oocyte maturation defect NGS Genetic Test
To identify genetic mutations in the ZP1 gene that affect oocyte maturation, aiding in the diagnosis...
LHCGR Gene Leydig cell hypoplasia type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the LHCGR gene that cause Leydig cell hypoplasi...
FSHR Gene Ovarian dysgenesis type 1 NGS Genetic Test
The purpose of the FSHR Gene Ovarian Dysgenesis Type 1 NGS Genetic Test is to identify pathogenic mu...
BMP15 Gene Ovarian dysgenesis type 2 NGS Genetic Test
The purpose of the BMP15 Gene Ovarian Dysgenesis Type 2 NGS Genetic Test is to identify mutations in...
AMH Gene Persistent Mullerian duct syndrome type 1 NGS Genetic Test
To diagnose PMDS Type 1 by detecting mutations in the AMH gene using NGS technology, aiding in clini...
C4BPA Gene Pregnancy loss, recurrent, C4BPA related NGS Genetic Test
To identify mutations in the C4BPA gene associated with recurrent pregnancy loss, aiding in diagnosi...
AMHR2 Gene Persistent Mullerian duct syndrome type 2 NGS Genetic Test
To diagnose mutations in the AMHR2 gene causing Persistent Mullerian Duct Syndrome Type 2 (PMDS2), e...
CORIN Gene Preeclampsia/eclampsia type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the CORIN gene that are associated with an increa...
HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic Test
To identify mutations in the HSD17B3 gene for definitive diagnosis of pseudohermaphroditism with gyn...
SYCP3 Gene SPGF4 NGS Genetic Test
To identify mutations in the SYCP3 gene associated with primary ovarian insufficiency, infertility,...
AURKC Gene SPGF5 NGS Genetic Test
To identify mutations in the AURKC gene that cause SPGF5 syndrome, enabling accurate diagnosis, gene...
CATSPER1 Gene SPGF7 NGS Genetic Test
To detect mutations in the CATSPER1 gene that cause SPGF7, a genetic disorder leading to male infert...
SPATA16 Gene SPGF6 NGS Genetic Test
The purpose of the SPATA16 Gene SPGF6 NGS Genetic Test is to diagnose genetic mutations in the SPATA...
GATA4 Gene Testicular anomalies with or without congenital heart disease NGS Genetic Test
To detect mutations in the GATA4 gene that cause testicular anomalies and congenital heart disease,...
DPY19L2 Gene SPGF9 NGS Genetic Test
The purpose of the DPY19L2 Gene SPGF9 NGS Genetic Test is to diagnose globozoospermia and identify g...
NR5A1 Gene SPGF8 NGS Genetic Test
The purpose of the NR5A1 Gene SPGF8 NGS Genetic Test is to identify pathogenic or likely pathogenic...
LAMC1 Gene Pelvic organ prolapse, LAMC1 related NGS Genetic Test
The purpose of this test is to detect mutations in the LAMC1 gene that are associated with an increa...
Beta Thalassemia-HBB Full Gene Analysis (Couple)
The purpose of this test is to determine whether either partner carries a mutation in the HBB gene t...
Microarray 60K (POC)
The primary purpose of Microarray 60K (POC) is to identify chromosomal imbalances (CNVs) in products...
IVF Surrogacy Sperm Paternity Test
The primary purpose of the IVF Surrogacy Sperm Paternity Test is to confirm the biological father of...
Carrier Screening
The primary purpose of carrier screening is to identify individuals who carry a gene mutation for an...
Fragile X (FMR1) Carrier Test
The purpose of the Fragile X Carrier Test is to identify individuals who carry mutations in the FMR1...
Spinal Muscular Atrophy Carrier Screening
The purpose of SMA Carrier Screening is to determine if an individual carries a mutation in the SMN1...
Spinal Muscular Atrophy (SMA) Carrier Detection Test
The purpose of this test is to identify carriers of a mutation in the SMN1 gene, the most common gen...
Beta Thalassemia-9 Common Mutations Screening (Couple)
The primary purpose of this screening is to identify carriers of beta thalassemia among couples plan...
Cystic Fibrosis: CFTR Full Gene Sequence Analysis
The purpose of CFTR full gene sequence analysis is to identify mutations in the CFTR gene that cause...
DMD Carrier Screening (79 Exons)
The primary purpose of DMD Carrier Screening is to determine whether an individual carries a mutatio...
Fragile X Tremor / Ataxia Syndrome (FXTAS) Test
The purpose of the FXTAS test is to identify the FMR1 gene premutation that causes Fragile X Tremor/...
Nx Gen Sequencing: Dementia Test
The purpose of Nx Gen Sequencing for dementia is to identify genetic mutations that may contribute t...
ATP13A2 Gene PARK9 Parkinson NGS Genetic Test
The purpose of the ATP13A2 Gene PARK9 Parkinson NGS Genetic Test is to detect mutations in the ATP13...
NCL Enzyme Panel NGS Genetic Test
The purpose of the NCL Enzyme Panel NGS Genetic Test is to diagnose genetic mutations in NCL enzymes...
SORL1 Gene Alzheimers Disease, Early Onset, Autosomal Dominant NGS Genetic Test
The purpose of this NGS genetic test is to analyze the SORL1 gene for disease-associated variants th...
PSEN1 Gene Dementia, frontotemporal NGS Genetic Test
To detect disease-causing mutations in the PSEN1 gene in individuals with clinical features of PSEN1...
SNCA Gene Dementia, Lewy body NGS Genetic Test
The purpose of this NGS-based genetic test is to detect pathogenic variants in the SNCA gene that ar...
NALCN Gene Neuroaxonal neurodegeneration, infantile, with facial dysmophism NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the NALCN gene that cause infantile n...
Growth Disorder Panel Test
The Growth Disorder Panel Test is used to: - Diagnose growth hormone deficiency in children and adu...
CYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency NGS Genetic Test
To detect mutations in the CYP21A2 gene for the diagnosis of adrenal hyperplasia due to 21-hydroxyla...
NKX2-2 Gene Maturity-onset diabetes of the young, NKX2-2 related NGS Genetic Test
To detect pathogenic variants in the NKX2-2 gene and other MODY-related genes for accurate diagnosis...
HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic Test
To detect mutations in the HSD17B3 gene associated with pseudohermaphroditism and gynecomastia for d...
CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the CYP27B1 gene that cause vitamin D-dependent...
TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic Test
To diagnose Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HDR syndrome) by identifying pathog...
TSHR Gene Hypothyroidism congenital nongoitrous type 1 NGS Genetic Test
The purpose of this test is to confirm a diagnosis of congenital nongoitrous hypothyroidism by analy...
TSHB Gene Hypothyroidism congenital nongoitrous type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the TSHB gene that cause congenital non...
PAX8 Gene Hypothyroidism congenital nongoitrous type 2, familial NGS Genetic Test
To identify mutations in the PAX8 gene associated with congenital nongoitrous hypothyroidism type 2...
TRHR Gene Hypothyroidism, isolated, TRHR related NGS Genetic Test
The purpose of the TRHR Gene Hypothyroidism Test is to identify mutations in the TRHR gene that caus...
ANOS1 Gene Kallmann syndrome type 1 NGS Genetic Test
The purpose of the ANOS1 Gene Kallmann Syndrome Type 1 NGS Genetic Test is to confirm a clinical dia...
PROK2 Gene Kallmann syndrome type 4 NGS Genetic Test
The purpose of this test is to detect mutations in the PROK2 gene that cause Kallmann Syndrome Type...
GHR Gene Laron syndrome NGS Genetic Test
To identify mutations in the GHR gene for early diagnosis and risk assessment of Laron Syndrome.
SEMA3A Gene Kallmann syndrome, SEMA3A related NGS Genetic Test
To identify mutations in the SEMA3A gene for the diagnosis of Kallmann syndrome and related disorder...
FGFR1 Gene Kallmann syndrome type 2 NGS Genetic Test
The purpose of the FGFR1 Gene Kallmann Syndrome Type 2 NGS Genetic Test is to identify mutations in...
PCSK1 Gene Obesity with impaired prohormone processing NGS Genetic Test
To diagnose mutations in the PCSK1 gene causing obesity with impaired prohormone processing, aiding...
MC4R Gene Obesity NGS Genetic Test
To identify mutations in the MC4R gene associated with obesity for personalized medical management a...
LEP Gene Obesity due to leptin deficiency NGS Genetic Test
To detect mutations in the LEP gene that cause leptin deficiency and associated obesity, aiding in d...
POMC Gene Obesity, early-onset, susceptibility to NGS Genetic Test
To diagnose POMC gene mutations for early-onset obesity susceptibility, enabling personalized treatm...
PPARG Gene Obesity, severe NGS Genetic Test
To identify mutations in the PPARG gene associated with severe obesity for diagnosis and personalize...
SLC5A5 Gene Thyroid dyshormonogenesis type 1 NGS Genetic Test
To detect mutations in the SLC5A5 gene responsible for thyroid dyshormonogenesis type 1, aiding in d...
DUOX2 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test
To diagnose mutations in the DUOX2 gene causing thyroid dyshormonogenesis type 6, facilitating early...
DUOXA2 Gene Thyroid dyshormonogenesis type 5 NGS Genetic Test
To diagnose DUOXA2 gene mutations causing thyroid dyshormonogenesis type 5, enabling targeted treatm...
THRB Gene Thyroid hormone resistance NGS Genetic Test
To diagnose thyroid hormone resistance by detecting mutations in the THRB gene through NGS technolog...
SECISBP2 Gene Thyroid hormone metabolism abnormal NGS Genetic Test
To identify mutations in the SECISBP2 gene that cause thyroid hormone metabolism abnormalities, aidi...
CDKN1B Gene Multiple endocrine neoplasia type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the CDKN1B gene to diagnose Multiple E...
CDKN2B Gene Multiple endocrine neoplasia type 1, CDKN2B related NGS Genetic Test
The purpose of the CDKN2B Gene NGS Genetic Test is to detect mutations or variants in the CDKN2B gen...
AIP Gene Pituitary adenoma, ACTH-secreting, due to AIP germline mutation NGS Genetic Test
To identify germline mutations in the AIP gene associated with ACTH-secreting pituitary adenomas, ai...
CAH (Congenital Adrenal Hyperplasia) Full Gene Sequence Analysis
The purpose of the CAH Full Gene Sequence Analysis is to identify genetic mutations causing Congenit...
PEX1 Gene Peroxisome biogenesis disorder type 1B NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing sequence variants in the PEX1 gene...
HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic Test
The purpose of the HSD3B2 Gene NGS Genetic Test is to detect pathogenic mutations in the HSD3B2 gene...
AGPAT2 Gene Lipodystrophy generalized type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the AGPAT2 gene associated with generalized lipod...
AIRE Gene Autoimmune polyendocrinopathy syndrome type 1 NGS Genetic Test
To diagnose Autoimmune Polyendocrinopathy Syndrome Type 1 by detecting mutations in the AIRE gene us...
Congenital adrenal hyperplasia Panel NGS Genetic Test
To diagnose Congenital Adrenal Hyperplasia by identifying genetic mutations in associated genes, ena...
TBX19 Gene Adrenocorticotropic hormone deficiency NGS Genetic Test
To identify pathogenic mutations in the TBX19 gene that cause adrenocorticotropic hormone (ACTH) def...
CYP11A1 Gene Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete NGS Genetic Test
To diagnose CYP11A1 gene mutations causing congenital adrenal insufficiency and 46XY sex reversal fo...
GPR101 Gene Acromegaly, predisposition to, due to germline GPR101 mutation NGS Genetic Test
The purpose of the GPR101 Gene Acromegaly NGS Genetic Test is to identify germline mutations in the...
AR Gene Androgen insensitivity NGS Genetic Test
To diagnose Androgen Insensitivity Syndrome and related disorders by identifying mutations in the AR...
AR Gene Androgen insensitivity, partial, with or without breast cancer NGS Genetic Test
To identify mutations in the AR gene for diagnosis of androgen insensitivity syndrome and associated...
SHBG Gene Androgen-binding protein deficiency NGS Genetic Test
To identify genetic mutations in the SHBG gene causing androgen-binding protein deficiency, aiding i...
NR3C1 Gene Glucocorticoid resistance, generalized NGS Genetic Test
To identify mutations in the NR3C1 gene that cause glucocorticoid resistance, aiding in diagnosis, t...
NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test
To diagnose glucocorticoid deficiency type 4 by detecting pathogenic mutations in the NNT gene using...
KEAP1 Gene Goitre, multinodular NGS Genetic Test
To identify genetic mutations in the KEAP1 gene that may contribute to the development of multinodul...
GHRHR Gene Growth hormone deficiency NGS Genetic Test
The purpose of the GHRHR Gene Growth Hormone Deficiency NGS Genetic Test is to detect pathogenic mut...
GH1 Gene Growth hormone deficiency NGS Genetic Test
The purpose of the GH1 Gene Growth Hormone Deficiency NGS Genetic Test is to identify mutations in t...
KCNJ5 Gene Hyperaldosteronism type 3 NGS Genetic Test
To identify mutations in the KCNJ5 gene that cause Hyperaldosteronism type 3, aiding in accurate dia...
CDC73 Gene Hyperparathyroidism type 1, familial NGS Genetic Test
To detect mutations in the CDC73 gene for diagnosis of Familial Hyperparathyroidism type 1, enabling...
CASR Gene Hyperparathyroidism, neonatal severe NGS Genetic Test
The purpose of this test is to detect mutations in the CASR gene that cause neonatal severe hyperpar...
CDC73 Gene Hyperparathyroidism type 2, familial NGS Genetic Test
To detect mutations in the CDC73 gene for the diagnosis of familial hyperparathyroidism type 2 and t...
CASR Gene Hypocalcemia, autosomal dominant, with Bartter syndrome NGS Genetic Test
To identify mutations in the CASR gene that cause autosomal dominant hypocalcemia with Bartter syndr...
CASR Gene Hypocalciuric hypercalcemia, type 1 NGS Genetic Test
To diagnose hypocalciuric hypercalcemia type 1 by detecting pathogenic mutations in the CASR gene us...
NSMF Gene Hypogonadotropic hypogonadism NGS Genetic Test
The purpose of the NSMF Gene Hypogonadotropic Hypogonadism NGS Genetic Test is to identify mutations...
KISS1R Gene Hypogonadotropic hypogonadism NGS Genetic Test
To identify pathogenic mutations in the KISS1R gene that cause hypogonadotropic hypogonadism, aiding...
LHB Gene Hypogonadotropic hypogonadism NGS Genetic Test
The purpose of the LHB Gene Hypogonadotropic Hypogonadism NGS Genetic Test is to detect pathogenic m...
TAC3 Gene Hypogonadotropic hypogonadism type 10 with or without anosmia NGS Genetic Test
To diagnose mutations in the TAC3 gene causing hypogonadotropic hypogonadism type 10, enabling early...
TACR3 Gene Hypogonadotropic hypogonadism type 11 with or without anosmia NGS Genetic Test
To diagnose mutations in the TACR3 gene causing hypogonadotropic hypogonadism type 11 with or withou...
GNRH1 Gene Hypogonadotropic hypogonadism type 12 with or without anosmia NGS Genetic Test
The purpose of this test is to detect mutations in the GNRH1 gene to confirm a diagnosis of hypogona...
PROKR2 Gene Hypogonadotropic hypogonadism type 3 with or without anosmia NGS Genetic Test
The purpose of this test is to diagnose hypogonadotropic hypogonadism type 3 caused by mutations in...
HS6ST1 Gene Hypogonadotropic hypogonadism type 15 with or without anosmia NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the HS6ST1 gene to confirm a diagnosi...
GNRHR Gene Hypogonadotropic hypogonadism type 7 with or without anosmia NGS Genetic Test
The purpose of this test is to detect mutations in the GNRHR gene that cause hypogonadotropic hypogo...
GCM2 Gene Hypoparathyroidism, familial isolated NGS Genetic Test
The purpose of this test is to identify mutations in the GCM2 gene that cause familial isolated hypo...
THRA Gene Hypothyroidism congenital nongoitrous type 6 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the THRA gene that cause congenital...
MEN1 Gene Multiple endocrine neoplasia type 1 NGS Genetic Test
The purpose of the MEN1 NGS Genetic Test is to detect mutations in the MEN1 gene to diagnose Multipl...
SLC9A3R1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the SLC9A3R1 gen...
SOX3 Gene Panhypopituitarism, X-linked NGS Genetic Test
To identify mutations in the SOX3 gene that cause panhypopituitarism, enabling accurate diagnosis an...
CDC73 Gene Parathyroid adenoma with cystic changes, familial NGS Genetic Test
To detect mutations in the CDC73 gene associated with familial parathyroid adenoma with cystic chang...
LHX3 Gene Pituitary hormone deficiency, combined type 3 NGS Genetic Test
To diagnose mutations in the LHX3 gene that cause combined pituitary hormone deficiency type 3, enab...
PRKAR1A Gene Pigmented nodular adrenocortical disease type 1, primary NGS Genetic Test
To diagnose Pigmented Nodular Adrenocortical Disease Type 1 by identifying mutations in the PRKAR1A...
LHX4 Gene Pituitary hormone deficiency, combined type 4 NGS Genetic Test
The purpose of this test is to diagnose genetic predisposition to pituitary hormone deficiency by de...
SULT2B1 Gene Polycystic ovary syndrome type 1 NGS Genetic Test
The purpose of this test is to identify variations in the SULT2B1 gene that may be associated with P...
SULT2A1 Gene Polycystic ovary syndrome type 1 NGS Genetic Test
To identify genetic variations in the SULT2A1 gene associated with Polycystic Ovary Syndrome Type 1,...
CACNA1D Gene Primary aldosteronism, seizures, and neurologic abnormalities NGS Genetic Test
To identify mutations in the CACNA1D gene that cause primary aldosteronism, seizures, and neurologic...
SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test
To identify mutations in the SCNN1A gene for diagnosis of Pseudohypoaldosteronism type 1, autosomal...
NR3C2 Gene Pseudohypoaldosteronism, type 1, autosomal dominant NGS Genetic Test
The purpose of this test is to diagnose pseudohypoaldosteronism type 1 by identifying mutations in t...
WNK4 Gene Pseudohypoaldosteronism, type 2B NGS Genetic Test
The purpose of this test is to diagnose pseudohypoaldosteronism type 2B by detecting pathogenic muta...
GNAS Gene Pseudohypoparathyroidism type 1B NGS Genetic Test
To diagnose pseudohypoparathyroidism type 1B by analyzing the GNAS gene for mutations, aiding in cli...
GNAS Gene Pseudopseudohypoparathyroidism NGS Genetic Test
The purpose of the GNAS Gene Pseudopseudohypoparathyroidism NGS Genetic Test is to detect mutations...
GNAS Gene Pseudohypoparathyroidism type 1A NGS Genetic Test
To identify mutations in the GNAS gene associated with pseudohypoparathyroidism type 1A for accurate...
FGF8 Gene Hypogonadotropic hypogonadism type 6 with or without anosmia NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the FGF8 gene that cause Hypogonado...
POU1F1 Gene Pituitary hormone deficiency type 1 NGS Genetic Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of POU1F1-related combined p...
PROP1 Gene Pituitary hormone deficiency type 2 NGS Genetic Test
The primary purpose of this test is to identify mutations in the PROP1 gene that cause combined pitu...
SHOX Gene Short stature syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the SHOX gene that cause short stat...
HLA - A2 (A*02) Test
The purpose of the HLA - A2 (A*02) test is to identify the presence of the HLA-A2 genetic marker, wh...
HLA C Locus Typing: Any Antigen Test
To identify specific HLA C antigens for transplant compatibility assessment, autoimmune disease diag...
HLA - B22 (B*22) Test
To identify the presence of HLA-B22 allele for the diagnosis and risk assessment of associated autoi...
HLA - B5 (B*51/52) Test
To identify genetic variants HLA B*51 and B*52 that increase the risk of Behcet's disease, aiding in...
HLA - DQB1 Typing Test
The HLA-DQB1 typing test is used to assess genetic compatibility for organ transplantation, diagnose...
HLA B Locus Typing: Any Antigen Test
To identify HLA B antigens for transplant compatibility and autoimmune disease risk assessment.
HLA DNA High Resolution Typing - C Locus Test
The purpose of this test is to determine the genetic makeup of HLA-C genes for transplant compatibil...
Leucocyte Adhesion Deficiency (LAD I & II) Test
The purpose of this test is to diagnose Leucocyte Adhesion Deficiency (LAD I & II) by evaluating whi...
CR1 Gene CR1 deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the CR1 gene th...
MBL2 Gene Mannose-binding protein deficiency NGS Genetic Test
The purpose of the MBL2 Gene NGS Genetic Test is to identify mutations in the MBL2 gene that cause m...
MEFV Gene Mediterranean fever NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Familial Mediterranean Fever by id...
TNFRSF1A Gene Periodic fever autosomal dominant NGS Genetic Test
The purpose of this test is to diagnose TNFRSF1A gene-related periodic fever syndrome by detecting p...
TYK2 Gene Tyrosine kinase 2 deficiency NGS Genetic Test
To identify mutations in the TYK2 gene that cause tyrosine kinase 2 deficiency, aiding in diagnosis,...
IKBKG Gene Atypical Mycobacterial infection NGS Genetic Test
To identify genetic mutations in the IKBKG gene that cause atypical mycobacterial infections and rel...
IL12RB1 Gene Atypical Mycobacterial infection NGS Genetic Test
The purpose of this test is to identify genetic mutations in the IL12RB1 gene that contribute to aty...
IFNGR2 Gene Atypical Mycobacterial infection NGS Genetic Test
The purpose of the IFNGR2 Gene Atypical Mycobacterial Infection NGS Genetic Test is to detect mutati...
FASLG Gene Autoimmune lymphoproliferative syndrome type 1B NGS Genetic Test
The purpose of this test is to detect mutations in the FASLG gene that cause Autoimmune Lymphoprolif...
FAS Gene Autoimmune lymphoproliferative syndrome type 1A NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Autoimmune Lymphoproliferative Syndrome Type 1...
CASP10 Gene Autoimmune lymphoproliferative syndrome type 2A NGS Genetic Test
To identify mutations in the CASP10 gene for definitive diagnosis of autoimmune lymphoproliferative...
CASP8 Gene Autoimmune lymphoproliferative syndrome type 2B NGS Genetic Test
To detect mutations in the CASP8 gene for diagnosis of Autoimmune Lymphoproliferative Syndrome Type...
NLRC4 Gene Cold autoinflammatory syndrome type 4, familial NGS Genetic Test
To diagnose Cold Autoinflammatory Syndrome Type 4 by identifying pathogenic mutations in the NLRC4 g...
LYST Gene Chediak-Higashi syndrome NGS Genetic Test
To detect mutations in the LYST gene for accurate diagnosis of Chediak-Higashi Syndrome, enabling ea...
NLRP12 Gene Cold autoinflammatory syndrome type 2 NGS Genetic Test
The purpose of the NLRP12 Gene Cold Autoinflammatory Syndrome Type 2 NGS Genetic Test is to detect m...
RAG2 Gene Combined cellular and humoral immune defects with granulomas NGS Genetic Test
To accurately diagnose mutations in the RAG2 gene that cause combined cellular and humoral immune de...
CD81 Gene Immunodeficiency common variable type 6 NGS Genetic Test
The purpose of this test is to identify mutations or variants in the CD81 gene associated with Immun...
LRBA Gene Immunodeficiency common variable type 8 NGS Genetic Test
To detect pathogenic mutations in the LRBA gene associated with common variable immunodeficiency typ...
ICOS Gene Immunodeficiency common variable type 1 NGS Genetic Test
The purpose of this test is to diagnose Immunodeficiency Common Variable Type 1 caused by ICOS gene...
CD19 Gene Immunodeficiency common variable type 3 NGS Genetic Test
The purpose of this test is to identify mutations in the CD19 gene associated with immunodeficiency...
TNFRSF13C Gene Immunodeficiency common variable type 4 NGS Genetic Test
The purpose of the TNFRSF13C Gene NGS Genetic Test is to detect genetic mutations in the TNFRSF13C g...
TNFRSF13B Gene Immunodeficiency common variable type 2 NGS Genetic Test
To identify mutations in the TNFRSF13B gene for the diagnosis of Common Variable Immunodeficiency Ty...
CD27 Gene Lymphoproliferative syndrome type 2 NGS Genetic Test
The purpose of this test is to diagnose CD27 Gene Lymphoproliferative Syndrome Type 2 by detecting m...
DCLRE1C Gene Severe combined immunodeficiency, Athabascan type NGS Genetic Test
The purpose of this test is to detect mutations in the DCLRE1C gene that cause Athabascan type sever...
PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic Test
To identify pathogenic mutations in the PTPRC gene responsible for severe combined immunodeficiency...
ADA Gene Severe combined immunodeficiency due to ADA deficiency NGS Genetic Test
The purpose of the ADA Gene NGS Genetic Test is to diagnose Severe Combined Immunodeficiency (SCID)...
IL2 Gene Severe combined immunodeficiency due to IL2 deficiency NGS Genetic Test
To detect mutations in the IL2 gene for accurate diagnosis of severe combined immunodeficiency (SCID...
ZAP70 Gene Selective T-cell defect NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ZAP70 gene to diagnose selective...
NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NGS Genetic Test
To diagnose severe combined immunodeficiency caused by mutations in the NHEJ1 gene, providing inform...
RAG1 Gene Severe combined immunodeficiency, B cell-negative NGS Genetic Test
The purpose of the RAG1 Gene SCID NGS Genetic Test is to identify mutations in the RAG1 gene that ca...
AK2 Gene Reticular dysgenesis NGS Genetic Test
The purpose of the AK2 Gene Reticular Dysgenesis NGS Genetic Test is to identify mutations in the AK...
NOD2 Gene Sarcoidosis, early-onset NGS Genetic Test
To identify genetic variants in the NOD2 gene that may increase the risk of developing early-onset s...
CR2 Gene Immunodeficiency, common variable type 7 NGS Genetic Test
The purpose of the CR2 Gene Immunodeficiency NGS Genetic Test is to identify mutations in the CR2 ge...
MCM4 Gene Immunodeficiency with natural killer cell deficiency NGS Genetic Test
To detect mutations in the MCM4 gene associated with immunodeficiency and natural killer cell defici...
MAGT1 Gene Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia NGS Genetic Test
To identify mutations in the MAGT1 gene for the diagnosis of X-linked immunodeficiency with magnesiu...
RFX5 Gene Bare lymphocyte syndrome, type 2, complementation group C NGS Genetic Test
The purpose of this test is to detect mutations in the RFX5 gene that cause Bare Lymphocyte Syndrome...
CYBA Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NGS Genetic Test
The purpose of this test is to detect mutations in the CYBA gene to diagnose Chronic Granulomatous D...
NCF1 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 NGS Genetic Test
To identify mutations in the NCF1 gene for diagnosing chronic granulomatous disease type 1, guiding...
HLA A, B, C, DRB1, DQB1 [High Resolution]
To determine HLA compatibility for organ and tissue transplants, diagnose autoimmune diseases, and a...
HLA A, B, C, DRB1, DQB1 (Any One) [Low Resolution]
The purpose of HLA A, B, C, DRB1, DQB1 (Low Resolution) Test is to assess compatibility for organ an...
HLA A, B, C, DRB1, DQB1 [Low Resolution]
HLA A, B, C, DRB1, DQB1 testing is done to identify a person's risk for certain diseases, such as au...
HLA A, B, DRB1 [High Resolution]
The primary purpose of the HLA A, B, DRB1 High Resolution test is to determine genetic compatibility...
HLA - DR5 (DRB1*11/12) Test
The purpose of HLA-DR5 (DRB1*11/12) genotyping is to detect the presence of HLA-DRB1*11 or HLA-DRB1*...
KIR (Killer cell immunoglobulin-like receptor) Genotyping Test
KIR genotyping helps evaluate NK cell receptor gene variants that affect pregnancy maintenance, canc...
ITGB1 Gene Leukocyte adhesion deficiency NGS Genetic Test
To identify mutations in the ITGB1 gene for the diagnosis of Leukocyte Adhesion Deficiency, enabling...
ITGB2 Gene Leukocyte adhesion deficiency NGS Genetic Test
To identify pathogenic mutations in the ITGB2 gene that cause Leukocyte Adhesion Deficiency Type 1,...
CARD11 Gene B-cell expansion with NFKB and T-cell anergy NGS Genetic Test
To diagnose medical conditions associated with mutations in the CARD11 gene, including lymphoprolife...
PSMB8 Gene Autoinflammation, lipodystroph and dermatosis syndrome NGS Genetic Test
The purpose of the PSMB8 Gene Autoinflammation, Lipodystrophy, and Dermatosis Syndrome NGS Genetic T...
RFXANK Gene Bare lymphocyte syndrome, type 2 NGS Genetic Test
The purpose of this test is to diagnose Bare Lymphocyte Syndrome Type 2 by detecting mutations in th...
CIITA Gene Bare lymphocyte syndrome, type 2, complementation group A NGS Genetic Test
The purpose of this test is to diagnose Bare Lymphocyte Syndrome Type 2A (BLS2A) by detecting pathog...
C1QA Gene C1q deficiency NGS Genetic Test
The purpose of the C1QA Gene C1q deficiency NGS Genetic Test is to identify mutations in the C1QA ge...
C2 Gene C2 deficiency NGS Genetic Test
The purpose of this test is to diagnose C2 Gene C2 Deficiency by detecting mutations in the C2 gene...
C5 Gene C5 deficiency NGS Genetic Test
To diagnose C5 gene deficiency and guide clinical management for patients with recurrent infections...
RAG2 Gene Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive NGS Genetic Test
The purpose of this test is to diagnose RAG2 gene mutations that cause combined immunodeficiency, en...
C7 Gene C7 deficiency NGS Genetic Test
To identify genetic variations in the C7 gene associated with C7 deficiency, aiding in diagnosis, ri...
C3 Gene C3 deficiency NGS Genetic Test
To diagnose C3 deficiency by identifying mutations in the C3 gene using NGS technology, aiding in th...
IL2RG Gene Combined immunodeficiency, X-linked, moderate NGS Genetic Test
To diagnose X-linked combined immunodeficiency caused by IL2RG gene mutations, enabling early treatm...
GATA2 Gene Emberger syndrome NGS Genetic Test
To identify mutations in the GATA2 gene associated with Emberger Syndrome for accurate diagnosis and...
CYBA Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NGS Genetic Test
To identify mutations in the CYBA gene for diagnosis of chronic granulomatous disease, guide treatme...
NCF1 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 NGS Genetic Test
To diagnose chronic granulomatous disease by detecting pathogenic mutations in the NCF1 gene using n...
NCF4 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NGS Genetic Test
The purpose of this test is to diagnose granulomatous disease type 3 by identifying pathogenic mutat...
NCF2 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 NGS Genetic Test
The purpose of the NCF2 Gene NGS Genetic Test is to identify mutations in the NCF2 gene that cause C...
CYBB Gene Granulomatous disease, chronic, X-linked NGS Genetic Test
This test is designed to identify mutations in the CYBB gene for the early diagnosis and management...
PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 NGS Genetic Test
To identify mutations in the PRF1 gene for diagnosis of Hemophagocytic Lymphohistiocytosis Type 2, e...
UNC13D Gene Hemophagocytic lymphohistiocytosis type 3 NGS Genetic Test
The purpose of the UNC13D Gene HLH Type 3 NGS Genetic Test is to identify mutations in the UNC13D ge...
STX11 Gene Hemophagocytic lymphohistiocytosis type 4 NGS Genetic Test
The purpose of the STX11 Gene HLH Type 4 NGS Genetic Test is to identify pathogenic mutations in the...
STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 NGS Genetic Test
To identify pathogenic mutations in the STXBP2 gene for diagnosis of Hemophagocytic Lymphohistiocyto...
SLC29A3 Gene Histiocytosis-lymphadenopathy plus syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the SLC29A3 gene to confirm a diagno...
STAT3 Gene Hyper-IgE recurrent infection syndrome NGS Genetic Test
The purpose of this test is to diagnose STAT3 Gene Hyper-IgE Recurrent Infection Syndrome by detecti...
DOCK8 Gene Hyper-IgE recurrent infection syndrome, autosomal recessive NGS Genetic Test
The purpose of this test is to detect mutations in the DOCK8 gene to diagnose Hyper-IgE Recurrent In...
STIM1 Gene Immunodeficiency type 10 NGS Genetic Test
To diagnose STIM1 gene immunodeficiency type 10 by detecting pathogenic variants in the STIM1 gene u...
PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency NGS Genetic Test
To diagnose purine nucleoside phosphorylase deficiency through comprehensive genetic analysis of the...
CARD11 Gene Immunodeficiency type 11 NGS Genetic Test
To diagnose CARD11 gene immunodeficiency type 11 through genetic testing, enabling early interventio...
PIK3CD Gene Immunodeficiency type 14 NGS Genetic Test
The purpose of the PIK3CD Gene Immunodeficiency Type 14 NGS Genetic Test is to diagnose mutations in...
IKBKB Gene Immunodeficiency type 15 NGS Genetic Test
To diagnose Immunodeficiency Type 15 by detecting pathogenic mutations in the IKBKB gene using NGS t...
MALT1 Gene Immunodeficiency type 12 NGS Genetic Test
To diagnose MALT1 Gene Immunodeficiency type 12 by detecting mutations in the MALT1 gene using NGS t...
CD3D Gene Immunodeficiency type 19 NGS Genetic Test
The purpose of the CD3D Gene Immunodeficiency Type 19 NGS Genetic Test is to diagnose CD3D-ID19 by d...
CD3E Gene Immunodeficiency type 18 NGS Genetic Test
The purpose of the CD3E Gene Immunodeficiency Type 18 NGS Genetic Test is to identify mutations in t...
GATA2 Gene Immunodeficiency type 21 NGS Genetic Test
The purpose of this test is to diagnose GATA2 gene mutations causing Immunodeficiency Type 21, enabl...
AICDA Gene Immunodeficiency type 2, with hyper-IgM NGS Genetic Test
The purpose of the AICDA Gene Immunodeficiency Type 2 NGS Genetic Test is to identify mutations in t...
LCK Gene Immunodeficiency type 22 NGS Genetic Test
To diagnose LCK Gene Immunodeficiency Type 22 by identifying mutations in the LCK gene using NGS tec...
IRF8 Gene Immunodeficiency type 32B, monocyte and dendritic cell deficiency, autosomal recessive NGS Genetic Test
To diagnose IRF8 Gene Immunodeficiency type 32B through genetic analysis, aiding in clinical managem...
CD40 Gene Immunodeficiency type 3, with hyper-IgM NGS Genetic Test
To diagnose CD40 Gene Immunodeficiency Type 3 with Hyper-IgM by identifying mutations in the CD40 ge...
CTPS1 Gene Immunodeficiency type 24 NGS Genetic Test
To identify mutations in the CTPS1 gene responsible for Immunodeficiency Type 24, aiding in diagnosi...
IRF8 Gene Immunodeficiency type 32A, mycobacteriosis, autosomal dominant NGS Genetic Test
To diagnose mutations in the IRF8 gene that cause immunodeficiency type 32A, leading to susceptibili...
TYK2 Gene Immunodeficiency type 35 NGS Genetic Test
To diagnose TYK2 Gene Immunodeficiency Type 35 by detecting pathogenic mutations in the TYK2 gene, e...
CYBB Gene Immunodeficiency type 34 NGS Genetic Test
The purpose of the CYBB Gene Immunodeficiency Type 34 NGS Genetic Test is to accurately diagnose gen...
ISG15 Gene Immunodeficiency type 38 NGS Genetic Test
To diagnose ISG15 gene mutations causing Immunodeficiency Type 38, confirm clinical suspicion, and g...
PIK3R1 Gene Immunodeficiency type 36 NGS Genetic Test
The purpose of the PIK3R1 Gene Immunodeficiency Type 36 NGS Genetic Test is to detect mutations in t...
IL21R Gene Immunodeficiency, primary, autosomal recessive, IL21R-related NGS Genetic Test
To diagnose IL21R Gene Immunodeficiency by identifying mutations in the IL21R gene using NGS technol...
RORC Gene Immunodeficiency type 42 NGS Genetic Test
To diagnose immunodeficiency type 42 by identifying mutations in the RORC gene using NGS technology.
UNG Gene Immunodeficiency type 5, with hyper IgM NGS Genetic Test
To identify mutations in the UNG gene that cause Immunodeficiency Type 5 with Hyper IgM, aiding in d...
IKBKG Gene Immunodeficiency, isolated NGS Genetic Test
The purpose of this test is to identify mutations in the IKBKG gene that cause immunodeficiency, ena...
CORO1A Gene Immunodeficiency type 8 NGS Genetic Test
The purpose of the CORO1A Gene Immunodeficiency type 8 NGS Genetic Test is to identify mutations in...
CD40LG Gene Immunodeficiency, X-linked with hyper-IgM NGS Genetic Test
To diagnose CD40LG gene mutations causing X-linked hyper-IgM syndrome, enabling early treatment and...
FOXP3 Gene Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked NGS Genetic Test
To confirm diagnosis of Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-linked (IPEX) sy...
ZBTB24 Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ZBTB24 gene to confirm a diagnos...
PICALM Gene Immunological disorder, PICALM related NGS Genetic Test
The purpose of the PICALM Gene NGS Genetic Test is to identify pathogenic mutations in the PICALM ge...
ABCB1 Gene Inflammatory bowel disease type 13 NGS Genetic Test
To identify mutations in the ABCB1 gene associated with inflammatory bowel disease type 13 (IBD13) f...
IL2RA Gene Interleukin 2 receptor deficiency NGS Genetic Test
To detect mutations in the IL2RA gene for accurate diagnosis of Interleukin 2 Receptor Deficiency, e...
IL12A Gene Interleukin 12A deficiency NGS Genetic Test
To diagnose Interleukin 12A deficiency by detecting pathogenic mutations in the IL12A gene using NGS...
IKBKG Gene Invasive pneumococcal disease, recurrent isolated type 2 NGS Genetic Test
To detect mutations in the IKBKG gene that may increase the risk of developing invasive pneumococcal...
IRAK4 Gene Invasive pneumococcal disease, recurrent isolated type 1 NGS Genetic Test
To identify genetic mutations in the IRAK4 gene that predispose individuals to recurrent invasive pn...
IRAK4 Gene IRAK4 deficiency NGS Genetic Test
The purpose of the IRAK4 Gene IRAK4 deficiency NGS Genetic Test is to accurately diagnose IRAK4 defi...
FERMT3 Gene Leukocyte adhesion deficiency type 3 NGS Genetic Test
To diagnose Leukocyte Adhesion Deficiency Type 3 (LAD3) by analyzing the FERMT3 gene using Next-Gene...
MR1 Gene Major histocompatibility comples 1 deficiency NGS Genetic Test
To diagnose MR1 gene mutations causing Major Histocompatibility Complex 1 deficiency for early inter...
NLRP3 Gene Muckle-wells syndrome NGS Genetic Test
To diagnose Muckle-Wells syndrome by identifying mutations in the NLRP3 gene, enabling early interve...
IFNGR1 Gene Mycobacterial infection, atypical, familial disseminated NGS Genetic Test
The purpose of this test is to identify genetic mutations in the IFNGR1 gene that cause susceptibili...
G6PC3 Gene Neutropenia, severe congenital type 4, autosomal recessive NGS Genetic Test
The purpose of the G6PC3 Gene Neutropenia NGS Genetic Test is to accurately diagnose severe congenit...
GFI1 Gene Neutropenia, severe congenital type 2, autosomal dominant NGS Genetic Test
The purpose of the GFI1 Gene Neutropenia NGS Genetic Test is to diagnose severe congenital neutropen...
VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive NGS Genetic Test
To diagnose VPS45 gene mutations causing severe congenital neutropenia type 5, enabling early interv...
RAC2 Gene Neutrophil immunodeficiency syndrome NGS Genetic Test
To diagnose Neutrophil Immunodeficiency Syndrome by detecting mutations in the RAC2 gene using Next...
JAGN1 Gene Neutropenia, severe congenital type 6, autosomal recessive NGS Genetic Test
To diagnose JAGN1 gene mutations causing severe congenital neutropenia type 6 through NGS genetic te...
RAG2 Gene Omenn syndrome NGS Genetic Test
To diagnose Omenn Syndrome by detecting mutations in the RAG2 gene using Next-Generation Sequencing...
DCLRE1C Gene Omenn syndrome NGS Genetic Test
To diagnose Omenn Syndrome by detecting mutations in the DCLRE1C gene using NGS technology, aiding i...
USB1 Gene Poikiloderma with neutropenia NGS Genetic Test
The purpose of the USB1 Gene Poikiloderma with Neutropenia NGS Genetic Test is to detect mutations i...
PSTPIP1 Gene Pyogenic sterile arthritis, pyoderma gangrenosum, and acne NGS Genetic Test
To diagnose PSTPIP1-associated autoinflammatory diseases, including pyogenic sterile arthritis, pyod...
MYD88 Gene Pyogenic bacterial infections, recurrent, due to MYD88 deficiency NGS Genetic Test
To diagnose MYD88 deficiency in individuals with recurrent pyogenic bacterial infections, enabling t...
DNASE1 Gene Systemic lupus erythematosus NGS Genetic Test
The purpose of the DNASE1 Gene NGS Genetic Test is to identify mutations in the DNASE1 gene that may...
DNASE1L3 Gene Systemic lupus erythematosus type 16 NGS Genetic Test
To identify mutations in the DNASE1L3 gene and other genetic variants associated with systemic lupus...
FOXN1 Gene T-cell immunodeficiency, congenital alopecia, and nail dystrophy NGS Genetic Test
To diagnose FOXN1 gene mutations associated with T-cell immunodeficiency, congenital alopecia, and n...
CXCR4 Gene WHIM syndrome NGS Genetic Test
The purpose of the CXCR4 Gene WHIM Syndrome NGS Genetic Test is to identify pathogenic or likely pat...
CR1 Gene CR1 deficiency NGS Genetic Test
The purpose of the CR1 Gene CR1 Deficiency NGS Genetic Test is to identify pathogenic or likely path...
STAT5B Gene Growth hormone insensitivity with immunodeficiency NGS Genetic Test
The purpose of this test is to diagnose STAT5B gene growth hormone insensitivity with immunodeficien...
BTK Gene Agammaglobulinemia and isolated hormone deficiency NGS Genetic Test
To diagnose BTK gene mutations causing agammaglobulinemia and isolated hormone deficiency, enabling...
LRRC8A Gene Agammaglobulinemia type 5, autosomal recessive NGS Genetic Test
The purpose of this test is to identify mutations in the LRRC8A gene to confirm a diagnosis of agamm...
CD79B Gene Agammaglobulinemia type 6, autosomal recessive NGS Genetic Test
The purpose of this test is to diagnose CD79B Gene Agammaglobulinemia Type 6 by identifying mutation...
BLNK Gene Agammaglobulinemia type 4, autosomal recessive NGS Genetic Test
The purpose of the BLNK Gene Agammaglobulinemia Type 4 NGS Genetic Test is to identify pathogenic or...
NCF4 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NGS Genetic Test
The purpose of this test is to diagnose chronic granulomatous disease type 3 by identifying mutation...
CTLA4 Gene Lymphoproliferative syndrome, autoimmune, type 5 NGS Genetic Test
The purpose of this test is to diagnose CTLA4 Gene Lymphoproliferative Syndrome by identifying genet...
XIAP Gene Lymphoproliferative syndrome, X-linked type 2 NGS Genetic Test
To diagnose XIAP Gene Lymphoproliferative Syndrome, X-linked type 2 (XLP-2) through genetic analysis...
JAK3 Gene SCID autosomal recessive T negative B positive type NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the JAK3 gene r...
ZBTB24 Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of ICF2 syndrome in individuals presenti...
IGHM Gene Agammaglobulinemia Type 1, Autosomal Recessive NGS Genetic Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of agammaglobulinemia type 1...
High Resolution HLA Typing Test
The purpose of high-resolution HLA typing is to determine the exact allele-level HLA profile of an i...
HLA - B38 (B*38) Test
To detect HLA-B38 antigen for diagnosis of associated autoimmune diseases and assessment of transpla...
HLA - Cw6 (C*06) Test
To identify the presence of the HLA-C*06:02 allele for assessing the risk of psoriasis and psoriatic...
HLA - B8 (B*08) Test
The purpose of the HLA-B8 (B*08) test is to determine the presence of the HLA-B8 genetic marker, whi...
HLA - DR4 (DRB1*04) Test
To determine the presence of the HLA-DRB1*04 allele, which is associated with a higher risk of devel...
HLA - DR2 (DRB1*02) Test
To determine genetic predisposition to autoimmune diseases such as multiple sclerosis, lupus, and rh...
HLA - DR3 (DRB1*03) Test
To diagnose autoimmune diseases by detecting the presence of HLA-DR3 (DRB1*03) protein, which is ass...
HLA DNA High Resolution Typing - DRB1 Locus Test
This test is performed to determine the precise HLA-DRB1 allele profile for organ transplantation ma...
TNFAIP3 Gene Rheumatoid arthritis, TNFAIP3 related NGS Genetic Test
To identify mutations in the TNFAIP3 gene associated with rheumatoid arthritis for early diagnosis,...
PRKCD Gene Autoimmune lymphoproliferative syndrome type 3 NGS Genetic Test
To identify mutations in the PRKCD gene for diagnosing Autoimmune Lymphoproliferative Syndrome Type...
ITGAM Gene Systemic lupus erythematosus, susceptibility to NGS Genetic Test
To detect genetic variations in the ITGAM gene associated with increased susceptibility to systemic...
NLRP1 Gene Vitiligo-associated multiple autoimmune disease NGS Genetic Test
To identify genetic variations in the NLRP1 gene that may increase the risk of developing vitiligo a...
HLA - Celiac Disease (DR-DQB1-DQA1 Haplotype Association including DQ2DQ8) Test
The primary purpose of the HLA Celiac Disease (DQ2/DQ8) Test is to detect genetic susceptibility to...
SLC6A14 Gene Cystic fibrosis, SLC6A14 related NGS Genetic Test
To detect mutations in the SLC6A14 gene that may modify cystic fibrosis symptoms, aiding in early di...
NEUROG3 Gene Diarrhea type 4, malabsorptive, congenital NGS Genetic Test
The purpose of this test is to diagnose Diarrhea Type 4 caused by mutations in the NEUROG3 gene, fac...
GUCY2C Gene Meconium ileus NGS Genetic Test
To detect pathogenic mutations in the GUCY2C gene associated with meconium ileus, facilitating early...
SFTPA2 Gene Pulmonary fibrosis, idiopathic NGS Genetic Test
To identify mutations in the SFTPA2 gene associated with idiopathic pulmonary fibrosis, enabling acc...
GUCY2C Gene Diarrhea type 6 NGS Genetic Test
To diagnose Diarrhea Type 6 caused by mutations in the GUCY2C gene, enabling early intervention and...
MYO5B Gene Diarrhea type 2 with microvillus atrophy NGS Genetic Test
The purpose of the MYO5B Gene NGS Genetic Test is to detect pathogenic mutations in the MYO5B gene f...
Pancreatitis Panel NGS Genetic Test
The purpose of the Pancreatitis Panel NGS Genetic Test is to identify genetic mutations that may cau...
CTRC Gene Pancreatitis NGS Genetic Test
The purpose of the CTRC Gene Pancreatitis NGS Genetic Test is to detect mutations in the CTRC gene t...
PRSS1 Gene Pancreatitis NGS Genetic Test
To identify mutations in the PRSS1 gene associated with hereditary pancreatitis, aiding in diagnosis...
SPINK1 Gene Pancreatitis NGS Genetic Test
The purpose of the SPINK1 Gene Pancreatitis NGS Genetic Test is to detect mutations in the SPINK1 ge...
PRSS2 Gene Pancreatitis, chronic, protection against NGS Genetic Test
To identify genetic mutations in the PRSS2 gene that may increase the risk of chronic pancreatitis,...
CPA1 Gene Pancreatitis, chronic, early onset NGS Genetic Test
The purpose of this test is to identify mutations in the CPA1 gene associated with chronic pancreati...
CLMP Gene Congenital short-bowel syndrome NGS Genetic Test
The purpose of this test is to confirm a diagnosis of congenital short-bowel syndrome caused by CLMP...
EDN3 Gene Hirschsprung disease NGS Genetic Test
The purpose of the EDN3 Gene Hirschsprung Disease NGS Genetic Test is to identify mutations in the E...
DNA Extraction from Stool
The primary purpose of DNA extraction from stool is to obtain pure DNA for molecular analysis. This...
RNA Extraction from Stool
The purpose of RNA Extraction from Stool is to detect the presence of RNA from pathogens or abnormal...
HLA Hypersensitivity to Abacavir (B*57:01) Test
To determine if an individual carries the HLA-B*57:01 allele, indicating a risk for hypersensitivity...
Huntington Disease Mutation Detection Test
The purpose of the Huntington Disease Mutation Detection Test is to determine the exact number of CA...
Myotonic Dystrophy Type 1 Test
The primary purpose of the Myotonic Dystrophy Type 1 Test is to detect the CTG trinucleotide repeat...
Nx Gen Sequencing: Duchenne & Becker Muscular Dystrophy Test
To identify pathogenic mutations in the DMD gene for accurate diagnosis of Duchenne and Becker Muscu...
Nx Gen Sequencing: Tuberous Sclerosis Complex Test
The primary purpose of the Nx Gen Sequencing test for Tuberous Sclerosis Complex is to provide a def...
MED25 Gene CMT2B2 NGS Genetic Test
The purpose of the MED25 Gene CMT2B2 NGS Genetic Test is to confirm or rule out a molecular diagnosi...
FLNA Gene Intestinal pseudoobstraction, neuronal NGS Genetic Test
The purpose of this test is to identify genetic mutations in the FLNA gene associated with Neuronal...
CNKSR2 Gene Intellectual disability nonsyndromic, CNKSR2 related NGS Genetic Test
The primary purpose of the CNKSR2 Gene NGS Genetic Test is to identify pathogenic or likely pathogen...
TMEM231 Gene Joubert syndrome type 20 NGS Genetic Test
The purpose of the TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic Test is to identify pathogenic...
WDR81 Gene Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2 NGS Genetic Test
The purpose of the WDR81 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutati...
HSD17B10 Gene Mental retardation, X-linked type 17 NGS Genetic Test
The primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the HSD...
ZNF674 Gene Mental retardation, X-linked type 92 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic mutations in the ZNF674 gene t...
UQCRQ Gene Mitochondrial complex III deficiency NGS Genetic Test
The purpose of the UQCRQ Gene Mitochondrial Complex III Deficiency NGS Genetic Test is to identify p...
FOLR1 Gene Neurodegeneration due to cerebral folate transport deficiency NGS Genetic Test
To identify mutations in the FOLR1 gene that cause cerebral folate transport deficiency (CFTD), enab...
PINK1 Gene PARK6 Parkinson NGS Genetic Test
The PINK1 Gene PARK6 Parkinson NGS Genetic Test is performed to identify pathogenic or likely pathog...
PPT1 Gene Ceroid lipofuscinosis neuronal type 1 NGS Genetic Test
The primary purpose of the PPT1 Gene CLN1 NGS Genetic Test is to confirm or rule out a molecular dia...
GRN Gene Ceroid lipofuscinosis neuronal type 11 NGS Genetic Test
The purpose of the GRN Gene Ceroid Lipofuscinosis Neuronal Type 11 NGS Genetic Test is to identify p...
SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic Test
The purpose of this test is to detect mutations in the SLC52A3 gene to confirm a diagnosis of Brown-...
TIMM8A Gene Opticoacoustic nerve atrophy with dementia NGS Genetic Test
To detect mutations in the TIMM8A gene for diagnosing Opticoacoustic Nerve Atrophy with Dementia, en...
MAGEL2 Gene Schaaf-Yang syndrome NGS Genetic Test
To identify mutations in the MAGEL2 gene for diagnosis of Schaaf-Yang syndrome, enabling early inter...
Neuronal Ceroid Lipofuscinosis Gene Panel
The purpose of the Neuronal Ceroid Lipofuscinosis Gene Panel is to identify pathogenic genetic mutat...
ITPR1 Gene Gillespie Syndrome NGS Genetic Test
The purpose of this test is to provide a molecular diagnosis for individuals with signs of ITPR1-ass...
Ataxia Repeat Expansion Panel NGS Genetic Test
To detect repeat expansions in genes associated with hereditary ataxia and aid in confirming a genet...
PSEN2 Gene Alzheimer Disease Type 4 NGS Genetic Test
The main purpose of this NGS genetic test is to identify disease-causing variants in the PSEN2 gene....
CHMP2B Gene Amyotrophic Lateral Sclerosis Type 17 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the CHMP2B gene in individuals w...
UBQLN2 Gene Amyotrophic Lateral Sclerosis, X-Linked Juvenile and Adult-Onset ALS NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the UBQLN2 gene in a patient with features o...
C9orf72 Gene Amyotrophic Lateral Sclerosis with Frontotemporal Dementia NGS Genetic Test
The purpose of this test is to detect disease-associated C9orf72 repeat expansions in patients with...
NTNG1 Gene Autism, NTNG1 Related NGS Genetic Test
The purpose of this test is to detect clinically significant variants in the NTNG1 gene that may be...
ATP10A Gene Autism/Mental Retardation/Angelman Syndrome, Susceptibility to, ATP10A Related NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the ATP10A gene that may increase susceptibi...
NSDHL Gene CK Syndrome NGS Genetic Test
To identify pathogenic mutations in the NSDHL gene that are associated with CK Syndrome, enabling ea...
EGR2 Gene CMT1D NGS Genetic Test
This test is intended for individuals showing clinical features of Charcot-Marie-Tooth disease, for...
GDAP1 Gene CMT2K NGS Genetic Test
This NGS genetic test is intended to analyse the GDAP1 gene coding and splice sites to identify dise...
KARS1 Gene CMTRIB NGS Genetic Test
The KARS1 Gene CMTRIB NGS Genetic Test is used to detect disease-causing variants in the KARS1 gene,...
ITM2B Gene Dementia, familial, Danish type NGS Genetic Test
The purpose of this NGS genetic test is to confirm or exclude a pathogenic mutation in the ITM2B gen...
PRX Gene Dejerine-Sottas disease NGS Genetic Test
To confirm a clinical diagnosis of Dejerine-Sottas disease by identifying pathogenic variants in the...
DNM2 Gene DI-CMTB NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the DNM2 gene. Suc...
HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the HSPG2 gene that cause Dyssegmenta...
SLC13A5 Gene Early infantile epileptic encephalopathy type 25 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the SLC13A5 gene, confirm or rul...
SPTLC1 Gene HSAN1 NGS Genetic Test
To identify mutations in the SPTLC1 gene associated with HSAN1, allowing accurate diagnosis, differe...
RETREG1 Gene HSAN2B NGS Genetic Test
The purpose of the RETREG1 Gene HSAN2B NGS Genetic Test is to detect pathogenic or likely pathogenic...
KIF1A Gene HSN2C NGS Genetic Test
The purpose of this NGS genetic test is to detect clinically significant variants in the KIF1A gene...
SCN9A Gene Insensitivity to pain, channelopathy-associated NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the SCN9A gene associated...
MT-ND6 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the MT-ND6 gene that are associated wit...
LRPPRC Gene Leigh syndrome, French-Canadian type NGS Genetic Test
The purpose of this test is to confirm the clinical diagnosis of Leigh syndrome (French-Canadian typ...
LIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related NGS Genetic Test
To confirm a clinical suspicion of LIPT1-related Leigh syndrome by identifying disease-causing varia...
FAM126A Gene Leukodystrophy hypomyelinating type 5 NGS Genetic Test
The test is intended to detect sequence variants in the FAM126A gene in order to confirm or exclude...
SOBP Gene Mental retardation, anterior maxillary protrusion, and strabismus NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the SOBP gene that cause...
SMARCB1 Gene Mental retardation, autosomal dominant type 15 NGS Genetic Test
To detect sequence variants in the SMARCB1 gene that may be associated with autosomal dominant type...
MED23 Gene Mental retardation, autosomal recessive type 18 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the MED23 gene to confirm or exclude a...
MTAP Gene Myopathy, limb girdle with bone fragility NGS Genetic Test
This NGS genetic test is done to confirm the clinical diagnosis of MTAP gene myopathy, identify path...
SPTLC2 Gene Neuropathy, hereditary sensory and autonomic type 1C NGS Genetic Test
To detect sequence variants in the SPTLC2 gene using NGS and help confirm or exclude a diagnosis of...
DST Gene Neuropathy, hereditary sensory and autonomic type 6 NGS Genetic Test
The test is intended to identify disease-causing variants in the DST gene to establish a molecular d...
SLC2A1 Gene Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia NGS Genetic Test
To detect pathogenic or likely pathogenic variants in the SLC2A1 gene using next generation sequenci...
EXOSC3 Gene Pontocerebellar hypoplasia type 1B NGS Genetic Test
The primary purpose of this NGS genetic test is to identify mutations in the EXOSC3 gene that cause...
VRK1 Gene Pontocerebellar hypoplasia type 1A NGS Genetic Test
The purpose of this single-gene NGS test is to detect mutations in the VRK1 gene that are known to c...
CELSR2 Gene Schizophrenia, CELSR2 related NGS Genetic Test
The purpose is to detect disease-associated sequence variants in the CELSR2 gene that may contribute...
RTN2 Gene SPG12 NGS Genetic Test
To identify disease-causing sequence variants in the RTN2 gene in individuals with clinical features...
SPART Gene SPG20 NGS Genetic Test
The purpose of the SPART Gene SPG20 NGS Genetic Test is to identify pathogenic variants in the SPG20...
C19orf12 Gene SPG43 NGS Genetic Test
To confirm the clinical diagnosis of SPG43 by detecting pathogenic variants in the C19orf12 gene, en...
REEP1 Gene SPG31 NGS Genetic Test
To detect pathogenic variants in the REEP1 gene and confirm a clinical diagnosis of hereditary spast...
BCAP31 Gene Deafness, dystonia, and cerebral hypomyelination, X-linked NGS Genetic Test
To identify pathogenic mutations in the BCAP31 gene for diagnosis of X-linked deafness, dystonia, an...
ERCC8 Gene Cockayne syndrome type A NGS Genetic Test
The purpose of the ERCC8 Gene Cockayne Syndrome Type A NGS Genetic Test is to confirm a diagnosis of...
ZIC2 Gene Holoprosencephaly type 5 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the ZIC2 gene to confirm a diagnosis of...
Interleukin 28B rs12979860 & rs 8099917 Genotyping Qualitative PCR Test
The purpose of the IL28B Genotyping Test is to determine the genetic variants at rs12979860 and rs80...
NAFLD - PNPLA3 & TM6SF2 Genotyping Test
To detect genetic variants in PNPLA3 and TM6SF2 genes that are linked to non-alcoholic fatty liver d...
NR1H4 Gene Cholestasis, infantile, NR1H4 related NGS Genetic Test
To identify mutations in the NR1H4 gene responsible for infantile cholestasis, enabling accurate dia...
UGT1A1 Gene Crigler-Najjar syndrome, type 1 NGS Genetic Test
To identify mutations in the UGT1A1 gene that cause Crigler-Najjar Syndrome Type 1, aiding in diagno...
UGT1A1 Gene Crigler-Najjar syndrome, type 2 NGS Genetic Test
To identify mutations in the UGT1A1 gene for the diagnosis of Crigler-Najjar Syndrome Type 2, aiding...
ABCC2 Gene Dubin-Johnson syndrome NGS Genetic Test
To diagnose Dubin-Johnson Syndrome by detecting mutations in the ABCC2 gene using NGS technology, ai...
NBAS Gene Infantile liver failure syndrome type 2 NGS Genetic Test
To diagnose infantile liver failure syndrome type 2 by identifying mutations in the NBAS gene using...
Criggler Najjar Syndrome
The purpose of this test is to diagnose Criggler Najjar Syndrome by identifying genetic mutations in...
SP110 Gene Hepatic venoocclusive disease with immunodeficiency NGS Genetic Test
To diagnose mutations in the SP110 gene associated with hepatic venoocclusive disease and immunodefi...
UGT1A1 Gene Gilbert syndrome NGS Genetic Test
To diagnose Gilbert syndrome by identifying mutations in the UGT1A1 gene using next-generation seque...
SLCO1B1 Gene Hyperbilirubinemia, Rotor type NGS Genetic Test
To diagnose Hyperbilirubinemia, Rotor Type by detecting mutations in the SLCO1B1 gene using NGS tech...
SLCO1B3 Gene Hyperbilirubinemia, Rotor type NGS Genetic Test
To diagnose Rotor type hyperbilirubinemia by identifying pathogenic mutations in the SLCO1B3 gene us...
PRKCSH Gene Polycystic liver disease NGS Genetic Test
To diagnose mutations in the PRKCSH gene associated with polycystic liver disease, enabling early de...
Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test
The purpose of this test is to detect specific mitochondrial DNA mutations that cause Leber's Heredi...
Nx Gen Sequencing: Cataract Test
The purpose of this test is to identify genetic mutations that may increase the risk of developing c...
Nx Gen Sequencing: Glaucoma Test
The purpose of Nx Gen Sequencing: Glaucoma Test is to analyze genetic mutations linked to glaucoma,...
Nx Gen Sequencing: Corneal Dystrophy Test
To identify specific genetic mutations responsible for corneal dystrophy for accurate diagnosis, tar...
Nx Gen Sequencing: Leber Congenital Amaurosis Test
The purpose of the Nx Gen Sequencing test for Leber Congenital Amaurosis is to identify specific gen...
Nx Gen Sequencing: Ophthalmoplegia Test
The purpose of Nx Gen Sequencing for Ophthalmoplegia is to identify genetic mutations in genes such...
Nx Gen Sequencing: Microphthalmia / Anophthalmia / Coloboma Spectrum Test
The purpose of this test is to determine the genetic basis of Microphthalmia, Anophthalmia, and Colo...
Nx Gen Sequencing: Optic Atrophy Test
The purpose of the Nx Gen Sequencing: Optic Atrophy Test is to identify genetic mutations or abnorma...
GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls Type NGS Genetic Test
The purpose of this test is to identify mutations in the GPR143 gene that cause ocular albinism, ena...
SLC24A5 Gene Albinism, Oculocutaneous Nonsyndromic NGS Genetic Test
To identify mutations in the SLC24A5 gene associated with oculocutaneous albinism for diagnostic con...
Ophthalmology Eyes Vision Panel NGS Genetic Test
The purpose of this test is to diagnose genetic disorders affecting the eyes and vision by identifyi...
CNGA3 Gene Achromatopsia Type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the CNGA3 gene that cause achromatop...
TYR Gene Albinism, Oculocutaneous Type 1A NGS Genetic Test
The purpose of this test is to detect mutations in the TYR gene that cause oculocutaneous albinism t...
CNGB3 Gene Achromatopsia Type 3 NGS Genetic Test
To identify pathogenic mutations in the CNGB3 gene responsible for achromatopsia type 3, enabling ac...
TYR Gene Albinism, Oculocutaneous Type 1B NGS Genetic Test
To diagnose mutations in the TYR gene associated with Oculocutaneous Albinism Type 1B, confirm clini...
OCA2 Gene Albinism, Oculocutaneous Type 2 NGS Genetic Test
The purpose of the OCA2 Gene Albinism Genetic Test is to identify mutations in the OCA2 gene to diag...
ADAMTSL4 Gene Ectopia Lentis, Isolated, Autosomal Recessive NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the ADAMTSL4 ge...
PXDN Gene Corneal Opacification and Other Ocular Anomalies NGS Genetic Test
The purpose of this test is to detect genetic mutations in the PXDN gene that cause corneal opacific...
VSX1 Gene Corneal Dystrophy, Posterior Polymorphous, Type 1 NGS Genetic Test
To identify mutations in the VSX1 gene associated with posterior polymorphous corneal dystrophy type...
LOXL1 Gene Exfoliation Syndrome, Susceptibility to NGS Genetic Test
The purpose of the LOXL1 Gene Exfoliation Syndrome NGS Genetic Test is to identify specific genetic...
CHN1 Gene Duane Retraction Syndrome NGS Genetic Test
The purpose of this test is to diagnose Duane Retraction Syndrome by identifying mutations in the CH...
FZD4 Gene Exudative Vitreoretinopathy NGS Genetic Test
To detect pathogenic mutations in the FZD4 gene for early diagnosis, risk assessment, and management...
FBN1 Gene Ectopia Lentis, Familial NGS Genetic Test
To identify pathogenic mutations in the FBN1 gene that cause ectopia lentis and related connective t...
NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Genetic Test
The primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the NLR...
NDP Gene Exudative Vitreoretinopathy Type 2 NGS Genetic Test
To detect mutations in the NDP gene for diagnosis of Exudative Vitreoretinopathy Type 2, aiding in e...
SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic Test
The purpose of the SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic Test is to identify...
KIF21A Gene Fibrosis of Extraocular Muscles, Congenital Type 1 NGS Genetic Test
To detect pathogenic mutations in the KIF21A gene associated with Congenital Fibrosis of Extraocular...
SALL4 Gene Duane Retraction syndrome NGS Genetic Test
To diagnose SALL4 Gene Duane Retraction Syndrome by identifying pathogenic variants in the SALL4 gen...
Retinal Degeneration Gene Panel
The purpose of the Retinal Degeneration Gene Panel is to identify genetic mutations responsible for...
SLC45A2 Gene Albinism, Oculocutaneous Type 4 NGS Genetic Test
The purpose of this test is to confirm or exclude a clinical suspicion of oculocutaneous albinism ty...
PAX6 Gene Aniridia NGS Genetic Test
The purpose of the PAX6 Gene Aniridia NGS Genetic Test is to detect pathogenic or likely pathogenic...
PITX3 Gene Anterior Segment Mesenchymal Dysgenesis NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the PITX3 gene in individuals with...
C10ORF11 Gene Albinism, Oculocutaneous Type 5 NGS Genetic Test
To detect mutations in the C10ORF11 gene using next-generation sequencing and provide a molecular di...
CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy NGS Genetic Test
The purpose of this CYP4V2 NGS genetic test is to detect pathogenic variants in the CYP4V2 gene that...
BEST1 Gene Bestrophinopathy NGS Genetic Test
The BEST1 Gene Bestrophinopathy NGS Genetic Test is a high-throughput sequencing assay designed to d...
FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the FOXL2 gene in individuals wi...
RLBP1 Gene Bothnia Retinal Dystrophy NGS Genetic Test
This test is used to detect disease-causing mutations in the RLBP1 gene, confirm a diagnosis of Both...
RGS9 Gene Bradyopsia NGS Genetic Test
The purpose of the RGS9 Gene Bradyopsia NGS Genetic Test is to identify pathogenic mutations in the...
RGS9BP Gene Bradyopsia NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the RG...
PITX3 Gene Cataract 11, Multiple Types NGS Genetic Test
The purpose of the PITX3 Gene Cataract 11 NGS Genetic Test is to identify pathological mutations in...
CRYBB3 Gene Cataract, Autosomal Recessive Congenital Nuclear Type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the CRYBB3 gene responsible for autosomal recessi...
ZNF469 Gene Brittle Cornea Syndrome NGS Genetic Test
The primary purpose of this test is to identify disease-causing sequence variants in the ZNF469 gene...
CRYBA4 Gene Cataract Type 23 NGS Genetic Test
The primary purpose is to identify pathogenic variants in the CRYBA4 gene associated with Cataract T...
UNC45B Gene Cataract Type 43 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the UNC45B gene associated...
FYCO1 Gene Cataract, Autosomal Recessive Congenital Type 2 NGS Genetic Test
The purpose of this test is to confirm the diagnosis of autosomal recessive congenital cataract type...
GCNT2 Gene Cataract, Autosomal Dominant NGS Genetic Test
The purpose of this test is to identify clinically significant pathogenic variants in the GCNT2 gene...
CRYBB1 Gene Cataract Type 17, Multiple Types NGS Genetic Test
To identify pathogenic variants in the CRYBB1 gene that are associated with cataract type 17. This h...
TDRD7 Gene Cataract, Autosomal Recessive Congenital Type 4 NGS Genetic Test
The purpose of this NGS test is to detect pathogenic disease-causing variants in the TDRD7 gene, con...
AGK Gene Cataract, Autosomal Recessive Type 38 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the AGK gene that cause autosomal reces...
HSF4 Gene Cataract, Lamellar NGS Genetic Test
Confirm HSF4 gene mutations and support presymptomatic risk assessment in hereditary lamellar catara...
LIM2 Gene Cataract, Cortical Pulverulent, Late-Onset NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the LIM2 gene and confirm t...
SORD Gene Cataract, Congenital NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the SORD gene in...
SIL1 Gene Cataract, Congenital, Associated with Marinesco-Sjogren Syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing sequence variants in the SIL1 gene...
GJA8 Gene Cataract-Microcornea Syndrome NGS Genetic Test
The purpose of this test is to identify clinically significant pathogenic variants in the GJA8 gene...
MAF Gene Cataract, Pulverulent or Cerulean, with or without Microcornea NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MAF gene associated with pulverul...
CRYAA Gene Cataract, Autosomal Recessive Congenital Type 1 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the CRYAA gene that are associated wi...
PAX6 Gene Coloboma of Optic Nerve NGS Genetic Test
To detect pathogenic variants in the PAX6 gene in individuals with optic nerve coloboma or related o...
PAX6 Gene Coloboma, Ocular, Autosomal Dominant NGS Genetic Test
The primary purpose of this NGS genetic test is to identify germline mutations in the PAX6 gene that...
CTC1 Gene Coat Plus Syndrome NGS Genetic Test
This test is intended to detect mutations in the CTC1 gene and other genes associated with Coat plus...
RAX2 Gene Cone-Rod Dystrophy Type 11 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the RAX2 gene as...
AIPL1 Gene Cone-Rod Dystrophy NGS Genetic Test
The primary purpose of the AIPL1 Gene Cone-Rod Dystrophy NGS Genetic Test is to identify pathogenic...
TENM1 Gene Colobomatous Microphthalmia NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the TENM1 gene associated with coloboma...
YAP1 Gene Coloboma, Ocular, with or without Hearing Impairment, Cleft Lip/Palate, and/or Mental Retardation NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the YAP1 gene in individual...
UNC119 Gene Cone-Rod Dystrophy NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the UNC119 gene and confirm a mo...
CD3G Gene Cone-Rod Dystrophy Type 17 NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the CD3G gene that cause Cone-Rod D...
RPGRIP1 Gene Cone-Rod Dystrophy Type 13 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the RPGRIP1 gene that are...
PROM1 Gene Cone-Rod Dystrophy Type 12 NGS Genetic Test
The purpose of this test is to identify a pathogenic or likely pathogenic variant in the PROM1 gene...
GUCA1A Gene Cone-Rod Dystrophy Type 14 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the GUCA1A gene that cause Cone-Rod Dys...
CDHR1 Gene Cone-Rod Dystrophy Type 15 NGS Genetic Test
To detect mutations in the CDHR1 gene associated with Cone-Rod Dystrophy Type 15, confirm a clinical...
CRX Gene Cone-Rod Dystrophy Type 2 NGS Genetic Test
The test is intended to identify a molecular genetic cause of cone-rod dystrophy in individuals whos...
POC1B Gene Cone-Rod Dystrophy Type 20 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the POC1B gene using NGS technology t...
ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic Test
To confirm a suspected diagnosis of cone-rod dystrophy type 9 by identifying pathogenic variants in...
PITPNM3 Gene Cone-Rod Dystrophy Type 5 NGS Genetic Test
To detect pathogenic or likely pathogenic variants in the PITPNM3 gene associated with cone-rod dyst...
PDE6C Gene Cone-Rod Dystrophy Type 4 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the PDE6C gene using next-genera...
C21ORF2 Gene Cone-Rod Dystrophy, C21ORF2 Related NGS Genetic Test
To detect pathogenic variants in the C21ORF2 gene associated with cone-rod dystrophy, confirming the...
RIMS1 Gene Cone-Rod Dystrophy Type 7 NGS Genetic Test
The purpose of this test is to identify genetic variants in the RIMS1 gene in individuals with suspe...
TUBB3 Gene Fibrosis of Extraocular Muscles, Congenital Type 3a NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the TUBB3 gene that are associated with...
ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic Test
To confirm the clinical diagnosis of cone-rod dystrophy type 3 by identifying pathogenic variants in...
PAX6 Gene Foveal Hypoplasia Type 1 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the PAX6 gene that are as...
PLA2G5 Gene Fleck Retina, Familial Benign NGS Genetic Test
The primary purpose of this test is to confirm a clinical suspicion of familial benign fleck retina...
OPTN Gene Glaucoma, Open Angle Type 1E NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the OPTN gene that cause op...
MYOC Gene Glaucoma, Open Angle Type 1A NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing mutations in the MYOC gene associa...
PRPH2 Gene Fundus Albipunctatus NGS Genetic Test
The purpose of this NGS genetic test is to detect clinically significant variants in the PRPH2 gene...
ASB10 Gene Glaucoma, Open Angle Type 1F NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the ASB10 gene...
WDR36 Gene Glaucoma, Open Angle Type 1G NGS Genetic Test
The purpose of this NGS genetic test is to detect sequence variants in the WDR36 gene that are assoc...
NTF4 Gene Glaucoma, Open Angle Type 1F NGS Genetic Test
The test is performed to identify mutations in the NTF4 gene associated with open-angle glaucoma typ...
CYP1B1 Gene Glaucoma, Primary Type 3A NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the CYP1B1 gene that may ca...
LTBP2 Gene Glaucoma, Primary Type 3D NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the LTBP2 gene using NGS technol...
OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia NGS Genetic Test
The purpose of this test is to confirm the diagnosis of gyrate atrophy of choroid and retina in indi...
RB1 Gene Hereditary Retinoblastoma NGS Genetic Test
The purpose of the RB1 gene hereditary retinoblastoma NGS genetic test is to identify pathogenic var...
OCA2 Gene Albinism, oculocutaneous type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the OCA2 gene t...
CDH3 Gene Ectodermal dysplasia, ectrodactyly, and macular dystrophy NGS Genetic Test
To confirm mutations in the CDH3 gene for diagnosis of ectodermal dysplasia, ectrodactyly, and macul...
PHOX2A Gene Fibrosis of extraocular muscles, congenital type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the PHOX2A gene to confirm a diagnosis of conge...
PITX3 Gene Anterior segment mesenchymal dysgenesis NGS Genetic Test
The purpose of this test is to diagnose Anterior Segment Mesenchymal Dysgenesis (ASMD) by detecting...
PITX2 Gene Axenfeld-Rieger syndrome type 1 NGS Genetic Test
To diagnose Axenfeld-Rieger Syndrome Type 1 by detecting mutations in the PITX2 gene using NGS techn...
CHM Gene Choroideremia NGS Genetic Test
The purpose of the CHM Gene Choroideremia NGS Genetic Test is to identify mutations in the CHM gene...
Comprehensive Ophthalmic Genetic Disorder Panel
The purpose of this test is to identify the underlying genetic cause of ophthalmic disorders. This c...
MICM (Maternally Inherited Cardiomyopathy) Mutation Detection Test
This assay detects pathogenic mutations in mitochondrial DNA (mtDNA) which are responsible for the m...
APOB Gene Hypercholesterolemia type B autosomanl dominant NGS Genetic Test
The purpose of the APOB Gene Hypercholesterolemia NGS Genetic Test is to accurately diagnose mutatio...
EPHX2 Gene Hypercholesterolemia, familial, due to LDLR defect, modifier of NGS Genetic Test
To identify pathogenic variants in the EPHX2 gene that modify the risk and severity of familial hype...
DSC2 Gene Arrhythmogenic right ventricular cardiomyopathy type 11 NGS Genetic Test
To identify mutations in the DSC2 gene associated with Arrhythmogenic right ventricular cardiomyopat...
KCNA5 Gene Atrial fibrillation type 7 NGS Genetic Test
To identify pathogenic mutations in the KCNA5 gene associated with atrial fibrillation type 7, enabl...
MYH6 Gene Atrial septal defect type 3 NGS Genetic Test
The purpose of the MYH6 Gene Atrial Septal Defect Type 3 NGS Genetic Test is to identify mutations o...
MAP2K2 Gene Cardiofaciocutaneous syndrome type 4 NGS Genetic Test
To detect mutations in the MAP2K2 gene associated with Cardiofaciocutaneous syndrome type 4, aiding...
FBN1 Gene Marfan syndrome NGS Genetic Test
The purpose of the FBN1 Gene Marfan Syndrome NGS Genetic Test is to identify mutations in the FBN1 g...
SMAD6 Gene Aortic valve disease type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the SMAD6 gene associated with aortic valve dis...
NOTCH1 Gene Aortic valve disease type 1 NGS Genetic Test
To identify pathogenic mutations in the NOTCH1 gene for the diagnosis and management of aortic valve...
MAT2A Gene Aortic aneurysm, familial thoracic, MAT2A related NGS Genetic Test
To diagnose familial thoracic aortic aneurysm caused by MAT2A gene mutations and assess the risk of...
PRKAR1A Gene Myxoma, intracardiac NGS Genetic Test
The purpose of the PRKAR1A Gene Myxoma NGS Genetic Test is to identify mutations in the PRKAR1A gene...
CETP Gene Hyperalphalipoproteinemia NGS Genetic Test
To identify mutations in the CETP gene associated with hyperalphalipoproteinemia for accurate diagno...
TLL1 Gene Atrial septal defect type 6 NGS Genetic Test
To identify mutations in the TLL1 gene associated with atrial septal defect type 6, aiding in diagno...
KCNE3 Gene Brugada syndrome type 6 NGS Genetic Test
The purpose of this test is to identify mutations in the KCNE3 gene associated with Brugada Syndrome...
TIMP1 Gene Bicuspid aortic valve NGS Genetic Test
The purpose of the TIMP1 Gene Bicuspid Aortic Valve NGS Genetic Test is to identify mutations in the...
SCN1B Gene Brugada syndrome type 5 NGS Genetic Test
To detect mutations in the SCN1B gene associated with Brugada syndrome type 5, enabling accurate dia...
CACNA1C Gene Brugada syndrome type 3 NGS Genetic Test
To confirm a diagnosis of Brugada Syndrome Type 3 by identifying pathogenic mutations in the CACNA1C...
DES Gene Cardiomyopathy, dilated type 1I NGS Genetic Test
The purpose of this test is to detect mutations in the DES gene associated with dilated cardiomyopat...
MT-ATP8 Gene Cardiomyopathy, infantile hypertrophic, MT-ATP8 related NGS Genetic Test
The purpose of the MT-ATP8 Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the MT-A...
KCNE1 Gene Jervell and Lange-Nielsen syndrome type 2 NGS Genetic Test
The purpose of the KCNE1 Gene NGS Genetic Test is to identify mutations in the KCNE1 gene associated...
ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the ACTA2 gene to confirm a diagnosis of multisys...
ACTA2 Gene Moyamoya disease type 5 NGS Genetic Test
The purpose of the ACTA2 Gene Moyamoya Disease Type 5 NGS Genetic Test is to identify mutations in t...
CRHR1 Gene Pulmonary newborn hypertension NGS Genetic Test
The purpose of the CRHR1 Gene Pulmonary Newborn Hypertension NGS Genetic Test is to identify mutatio...
KCNQ1 Gene Short QT syndrome type 2 NGS Genetic Test
To identify pathogenic mutations in the KCNQ1 gene that cause Short QT syndrome type 2, enabling acc...
SCN5A Gene Sick sinus syndrome type 1 NGS Genetic Test
The purpose of this test is to diagnose SCN5A gene mutations that cause sick sinus syndrome type 1,...
GATA4 Gene Testicular anomalies with or without congenital heart disease NGS Genetic Test
To identify genetic mutations in the GATA4 gene that may cause testicular anomalies and/or congenita...
ABCA1 Gene Coronary artery disease in familial hypercholesterolemia, protection against NGS Genetic Test
The purpose of this test is to identify mutations and variants in the ABCA1 gene that may influence...
MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the MED13L gene that cause transpositio...
CRELD1 Gene Atrioventricular septal defect, partial with heterotaxy syndrome NGS Genetic Test
This test aims to confirm a diagnosis of CRELD1 gene-related atrioventricular septal defect with het...
FOXH1 Gene Congenital heart disease and transposition of the great arteries NGS Genetic Test
The purpose of the FOXH1 Gene NGS Genetic Test is to detect mutations in the FOXH1 gene that are ass...
FBN1 Gene Marfan syndrome NGS Genetic Test
The purpose of the FBN1 gene NGS genetic test is to identify pathogenic mutations in the FBN1 gene t...
GDF1 Gene Transposition of great arteries, dextro-looped 3 NGS Genetic Test
The purpose of this test is to identify mutations in the GDF1 gene that are associated with dextro-l...
MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of dextro-looped transposition o...
MMC (Maternal Myopathy with Cardiomyopathy) Mutation Detection Test
The purpose of the MMC Mutation Detection Test is to identify mutations in the TTN gene that cause M...
LPA Gene Coronary artery disease, susceptibility to NGS Genetic Test
The purpose of the LPA Gene Coronary Artery Disease Susceptibility NGS Genetic Test is to identify g...
ITIH4 Gene Hypercholesterolemia, susceptibility to NGS Genetic Test
To identify genetic mutations in the ITIH4 gene associated with susceptibility to hypercholesterolem...
PPP1R17 Gene Hypercholesterolemia, susceptibility to NGS Genetic Test
To identify mutations in the PPP1R17 gene associated with susceptibility to hypercholesterolemia, ai...
APOA1 Gene Hypoalphalipoproteinemia NGS Genetic Test
To detect pathogenic mutations in the APOA1 gene associated with hypoalphalipoproteinemia, enabling...
GJC2 Gene Lymphedema, hereditary, type IC NGS Genetic Test
The purpose of this test is to detect mutations in the GJC2 gene to diagnose hereditary lymphedema t...
RYR2 Gene Arrhythmogenic right ventricular dysplasia type 2 NGS Genetic Test
To identify mutations in the RYR2 gene associated with Arrhythmogenic Right Ventricular Dysplasia Ty...
DSG2 Gene Arrhythmogenic right ventricular cardiomyopathy type 10 NGS Genetic Test
To identify pathogenic mutations in the DSG2 gene associated with arrhythmogenic right ventricular c...
DSP Gene Arrhythmogenic right ventricular cardiomyopathy type 8 NGS Genetic Test
To identify mutations in the DSP gene associated with Arrhythmogenic Right Ventricular Cardiomyopath...
Cardiology Panel NGS Genetic Test
To identify genetic mutations associated with cardiovascular diseases for early diagnosis, risk asse...
TMEM43 Gene Arrhythmogenic right ventricular cardiomyopathy type 5 NGS Genetic Test
The purpose of the TMEM43 Gene ARVC5 NGS Genetic Test is to identify mutations in the TMEM43 gene th...
TGFB3 Gene Arrhythmogenic right ventricular cardiomyopathy type 1 NGS Genetic Test
The purpose of the TGFB3 Gene NGS Genetic Test is to identify mutations in the TGFB3 gene that cause...
FOXF1 Gene Alveolar capillary dysplasia with misalignment of pulmonary veins NGS Genetic Test
To detect mutations in the FOXF1 gene for the diagnosis of Alveolar capillary dysplasia with misalig...
PKP2 Gene Arrhythmogenic right ventricular cardiomyopathy type 9 NGS Genetic Test
The purpose of this test is to detect mutations in the PKP2 gene associated with Arrhythmogenic Righ...
JUP Gene Arrhythmogenic right ventricular cardiomyopathy type 12 NGS Genetic Test
The purpose of the JUP Gene ARVC Type 12 NGS Genetic Test is to identify mutations in the JUP gene t...
NPPA Gene Atrial fibrillation type 6 NGS Genetic Test
To identify mutations in the NPPA gene associated with atrial fibrillation type 6, aiding in early d...
KCNQ1 Gene Atrial fibrillation type 3 NGS Genetic Test
The purpose of the KCNQ1 Gene Atrial Fibrillation Type 3 NGS Genetic Test is to detect mutations in...
CNOT3 Gene Cardiac defects, CNOT3 related NGS Genetic Test
To identify mutations in the CNOT3 gene associated with cardiac defects for early diagnosis and mana...
PPP1R8 Gene Cardiac defects, PPP1R8 related NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the PPP1R8 gene that are linked to car...
FLNA Gene Cardiac valvular dysplesia, X-linked NGS Genetic Test
To identify mutations in the FLNA gene that cause cardiac valvular dysplasia, enabling accurate diag...
SCO2 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency NGS Genetic Test
To identify mutations in the SCO2 gene responsible for cardioencephalomyopathy, aiding in diagnosis,...
CAV3 Gene Cardiomyopathy, familial hypertrophic NGS Genetic Test
To detect mutations in the CAV3 gene that cause familial hypertrophic cardiomyopathy, aiding in diag...
MYL2 Gene Cardiomyopathy, familial hypertrophic type 10 NGS Genetic Test
The purpose of the MYL2 Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the MYL2 ge...
MYOZ2 Gene Cardiomyopathy, familial hypertrophic type 16 NGS Genetic Test
To diagnose MYOZ2 gene-related familial hypertrophic cardiomyopathy through genetic sequencing, aidi...
DSP Gene Cardiomyopathy, dilated with woolly hair and keratoderma NGS Genetic Test
To detect mutations in the DSP gene associated with dilated cardiomyopathy, woolly hair, and keratod...
DNAJC19 Gene Cardiomyopathy, dilated with ataxia NGS Genetic Test
To identify mutations in the DNAJC19 gene for diagnosis of dilated cardiomyopathy with ataxia.
TNNT2 Gene Cardiomyopathy, familial hypertrophic type 2 NGS Genetic Test
To detect mutations in the TNNT2 gene associated with familial hypertrophic cardiomyopathy for diagn...
CALR3 Gene Cardiomyopathy, familial hypertrophic type 19 NGS Genetic Test
To identify mutations in the CALR3 gene associated with familial hypertrophic cardiomyopathy type 19...
LMNA Gene Cardiomyopathy, dilated with hypergonadotropic hypogonadism NGS Genetic Test
The purpose of this test is to identify mutations in the LMNA gene that cause dilated cardiomyopathy...
GATAD1 Gene Cardiomyopathy, dilated type 2B NGS Genetic Test
The purpose of this test is to identify mutations in the GATAD1 gene that cause dilated cardiomyopat...
CAV3 Gene Long QT syndrome type 9 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the CAV3 gene associated with Long Q...
ANK2 Gene Long QT syndrome type 4 NGS Genetic Test
The purpose of the ANK2 Gene Long QT Syndrome Type 4 NGS Genetic Test is to detect mutations in the...
KCNE2 Gene Long QT syndrome type 6 NGS Genetic Test
To identify pathogenic variants in the KCNE2 gene associated with Long QT Syndrome Type 6 for accura...
MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic Test
To diagnose MELAS syndrome by detecting mutations in the MT-TL1 gene using Next-Generation Sequencin...
SCN5A Gene Long QT syndrome type 3 NGS Genetic Test
The purpose of the SCN5A Gene Long QT Syndrome Type 3 NGS Genetic Test is to accurately diagnose Lon...
FBN1 Gene MASS syndrome NGS Genetic Test
To detect mutations in the FBN1 gene associated with MASS syndrome and related connective tissue dis...
CACNA1C Gene Long QT syndrome type 8 NGS Genetic Test
To identify mutations in the CACNA1C gene that cause Long QT Syndrome Type 8, enabling early diagnos...
KCNH2 Gene Long QT syndrome type 2 NGS Genetic Test
To diagnose Long QT syndrome type 2 by detecting pathogenic mutations in the KCNH2 gene using NGS te...
TGFBR1 Gene Aortic aneurysm, familial thoracic type 5 NGS Genetic Test
To identify pathogenic mutations in the TGFBR1 gene that cause familial thoracic aortic aneurysm typ...
ABCC6 Gene Arterial calcification type 2, generalized, infantile NGS Genetic Test
To identify mutations in the ABCC6 gene for diagnosis of Arterial calcification type 2, generalized,...
PRKG1 Gene Aortic aneurysm, familial thoracic type 8 NGS Genetic Test
The purpose of this test is to detect mutations in the PRKG1 gene associated with familial thoracic...
SLC2A10 Gene Arterial Tortuosity Syndrome NGS Genetic Test
The purpose of the SLC2A10 Gene Arterial Tortuosity Syndrome NGS Genetic Test is to identify pathoge...
MYH11 Gene Aortic aneurysm, familial thoracic type 4 NGS Genetic Test
To detect mutations in the MYH11 gene for early diagnosis, risk assessment, and management of famili...
MYLK Gene Aortic aneurysm, familial thoracic type 7 NGS Genetic Test
To identify pathogenic mutations in the MYLK gene that increase the risk of familial thoracic aortic...
SOAT1 Gene Atherosclerosis, SOAT1 related NGS Genetic Test
To identify mutations in the SOAT1 gene associated with an increased risk of atherosclerosis, aiding...
TGFBR2 Gene Aortic aneurysm, familial thoracic type 3 NGS Genetic Test
The purpose of the TGFBR2 Gene Aortic Aneurysm NGS Genetic Test is to identify mutations in the TGFB...
ACTA2 Gene Aortic aneurysm, familial thoracic type 6 NGS Genetic Test
To identify genetic mutations in the ACTA2 gene associated with familial thoracic aortic aneurysm an...
SERPINC1 Gene Antithrombin III deficiency NGS Genetic Test
To detect pathogenic mutations in the SERPINC1 gene for diagnosing hereditary antithrombin III defic...
Cardiomyopathy Gene Panel
To identify genetic mutations responsible for cardiomyopathy, aiding in diagnosis, family screening,...
Cardiac Channelopathy Gene Panel
The purpose of the Cardiac Channelopathy Gene Panel is to identify genetic mutations responsible for...
LDB3 Gene Cardiomyopathy, Hypertrophic, Type 24 NGS Genetic Test
This test is used to identify pathogenic variants in the LDB3 gene in individuals with clinical or f...
LDLRAP1 Gene Hypercholesterolemia autosomal recessive NGS Genetic Test
To diagnose autosomal recessive hypercholesterolemia caused by mutations in the LDLRAP1 gene using N...
CACNA1D Gene Sinoatrial node dysfunction and deafness NGS Genetic Test
To identify genetic mutations in the CACNA1D gene that cause sinoatrial node dysfunction and deafnes...
GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic Test
To diagnose Hereditary Hemorrhagic Telangiectasia Type 5 by detecting mutations in the GDF2 gene usi...
ENG Gene Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 1 NGS Genetic Test
The purpose of the ENG Gene Telangiectasia NGS Genetic Test is to confirm a diagnosis of Hereditary...
ACVRL1 Gene Telangiectasia, hereditary hemorrhagic, type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the ACVRL1 gene to confirm a diagnosis of Heredit...
TBX20 Gene Atrial septal defect type 4 NGS Genetic Test
The purpose of this test is to identify mutations in the TBX20 gene that may cause Atrial Septal Def...
ACTC1 Gene Atrial septal defect type 5 NGS Genetic Test
To detect mutations in the ACTC1 gene for accurate diagnosis, management, and genetic counseling of...
GATA6 Gene Atrial septal defect type 9 NGS Genetic Test
To diagnose Atrial Septal Defect Type 9 by detecting mutations in the GATA6 gene using next-generati...
GATA6 Gene Atrioventricular septal defect type 5 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the GATA6 gene that cause Atrioventr...
TAZ Gene Barth syndrome NGS Genetic Test
To diagnose Barth Syndrome by identifying mutations in the TAZ gene using NGS technology, enabling a...
SCN5A Gene Brugada syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm the presence of pathogenic mutations in the SCN5A gene, aidin...
GPD1L Gene Brugada syndrome type 2 NGS Genetic Test
To detect mutations in the GPD1L gene associated with Brugada Syndrome Type 2 for accurate diagnosis...
HCN4 Gene Brugada syndrome type 8 NGS Genetic Test
The purpose of the HCN4 Gene Brugada Syndrome Type 8 NGS Genetic Test is to identify pathogenic muta...
MT-ATP8 Gene Cardiomyopathy, apical hypertrophic, and neuropathy, MT-ATP8 related NGS Genetic Test
To detect mutations in the MT-ATP8 gene associated with cardiomyopathy, apical hypertrophic, and neu...
DSG2 Gene Cardiomyopathy, dilated type 1BB NGS Genetic Test
To detect mutations in the DSG2 gene associated with dilated cardiomyopathy type 1BB for diagnosis,...
RBM20 Gene Cardiomyopathy, dilated type 1DD NGS Genetic Test
To diagnose RBM20 gene cardiomyopathy by detecting mutations in the RBM20 gene using next-generation...
TNNT2 Gene Cardiomyopathy, dilated type 1D NGS Genetic Test
To identify mutations in the TNNT2 gene that cause dilated cardiomyopathy type 1D, aiding in diagnos...
LDB3 Gene Cardiomyopathy, dilated type 1C NGS Genetic Test
The purpose of the LDB3 Gene Cardiomyopathy NGS Genetic Test is to detect mutations in the LDB3 gene...
CRYAB Gene Cardiomyopathy, dilated type 1 NGS Genetic Test
To identify mutations in the CRYAB gene that may cause dilated cardiomyopathy type 1, aiding in diag...
SCN5A Gene Cardiomyopathy, dilated type 1E NGS Genetic Test
The purpose of the SCN5A Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the SCN5A...
MYH6 Gene Cardiomyopathy, dilated type 1EE NGS Genetic Test
The purpose of the MYH6 Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the MYH6 ge...
TTN Gene Cardiomyopathy, dilated type 1G NGS Genetic Test
The purpose of this test is to detect mutations in the TTN gene that cause dilated cardiomyopathy ty...
EYA4 Gene Cardiomyopathy, dilated type 1J NGS Genetic Test
The purpose of the EYA4 Gene Cardiomyopathy, dilated type 1J NGS Genetic Test is to detect mutations...
SGCD Gene Cardiomyopathy, dilated type 1L NGS Genetic Test
The purpose of this test is to identify mutations in the SGCD gene that cause dilated cardiomyopathy...
PRDM16 Gene Cardiomyopathy, dilated type 1LL NGS Genetic Test
The purpose of this test is to detect mutations in the PRDM16 gene that cause dilated cardiomyopathy...
TMPO Gene Cardiomyopathy, dilated type 1T NGS Genetic Test
To diagnose TMPO gene mutations causing dilated cardiomyopathy type 1T, aiding in early detection, t...
PLN Gene Cardiomyopathy, dilated type 1P NGS Genetic Test
The purpose of the PLN Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the PLN gene...
FKTN Gene Cardiomyopathy, dilated type 1X NGS Genetic Test
To diagnose dilated cardiomyopathy caused by mutations in the FKTN gene, aiding in early detection,...
TNNC1 Gene Cardiomyopathy, dilated type 1Z NGS Genetic Test
The purpose of the TNNC1 gene cardiomyopathy NGS genetic test is to identify mutations in the TNNC1...
TPM1 Gene Cardiomyopathy, dilated type 1Y NGS Genetic Test
To identify mutations in the TPM1 gene for accurate diagnosis of dilated type 1Y cardiomyopathy, aid...
MYBPC3 Gene Cardiomyopathy, familial hypertrophic type 4 NGS Genetic Test
To identify pathogenic mutations in the MYBPC3 gene that cause familial hypertrophic cardiomyopathy...
TNNI3 Gene Cardiomyopathy, familial hypertrophic type 7 NGS Genetic Test
The purpose of the TNNI3 Gene Cardiomyopathy NGS Genetic Test is to detect mutations in the TNNI3 ge...
TTN Gene Cardiomyopathy, familial hypertrophic type 9 NGS Genetic Test
To detect mutations in the TTN gene associated with familial hypertrophic cardiomyopathy type 9, aid...
MT-TH Gene Cardiomyopathy, idiopathic dilated, mitochondrial, MT-TH related NGS Genetic Test
The purpose of the MT-TH Gene Cardiomyopathy NGS Genetic Test is to detect mutations in the MT-TH ge...
MT-TG Gene Cardiomyopathy, hypertrophic, MT-TG related NGS Genetic Test
The purpose of the MT-TG Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the MT-TG...
PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic Test
To detect pathogenic mutations in the PRKD1 gene for accurate diagnosis of congenital heart defects...
GATA5 Gene Congenital heart defects multiple types NGS Genetic Test
To identify mutations in the GATA5 gene for diagnosing congenital heart defects and guiding treatmen...
MYH7B Gene Cardiomyopathy, left ventricular noncompaction, MYH7B related NGS Genetic Test
To detect mutations in the MYH7B gene for diagnosis of left ventricular noncompaction cardiomyopathy...
ZFPM2 Gene Diaphragmatic hernia type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the ZFPM2 gene to confirm a diagnosis of diaphrag...
DBH Gene Dopamine beta-hydroxylase (DBH) deficiency NGS Genetic Test
To identify mutations in the DBH gene causing dopamine beta-hydroxylase deficiency for diagnosis, ca...
LAMP2 Gene Danon disease NGS Genetic Test
The purpose of this test is to identify mutations in the LAMP2 gene that cause Danon disease, enabli...
DSP Gene Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis NGS Genetic Test
To identify mutations in the DSP gene that cause dilated cardiomyopathy with woolly hair, keratoderm...
MYLK2 Gene Cardiomyopathy, hypertrophic, midventricular, digenic NGS Genetic Test
To identify mutations in the MYLK2 gene and associated genes using next-generation sequencing for th...
SCN5A Gene Heart block, progressive, familial, type 1A NGS Genetic Test
To confirm the diagnosis of SCN5A gene-related progressive familial heart block type 1A through iden...
LMNA Gene Heart-hand syndrome, Slovenian type NGS Genetic Test
The purpose of the LMNA Gene Heart-hand Syndrome NGS Genetic Test is to identify pathogenic mutation...
KCNQ1 Gene Jervell and Lange-Nielsen syndrome type 1 NGS Genetic Test
To detect pathogenic mutations in the KCNQ1 gene for diagnosis of Jervell and Lange-Nielsen Syndrome...
DTNA Gene Left ventricular noncompaction 1, with or without congenital heart defects NGS Genetic Test
The purpose of this test is to identify mutations in the DTNA gene that cause left ventricular nonco...
KCNQ1 Gene Long QT syndrome type 1 NGS Genetic Test
The purpose of the KCNQ1 Gene Long QT Syndrome Type 1 NGS Genetic Test is to detect mutations in the...
SNTA1 Gene Long QT syndrome type 12 NGS Genetic Test
The purpose of the SNTA1 Gene Long QT Syndrome Type 12 NGS Genetic Test is to identify mutations in...
SCN4B Gene Long QT syndrome type 10 NGS Genetic Test
To identify mutations in the SCN4B gene associated with Long QT Syndrome Type 10 for accurate diagno...
MT-TS2 Gene MERRF/MELAS overlap syndrome, MT-TS2 related NGS Genetic Test
To diagnose MERRF/MELAS overlap syndrome by detecting mutations in the MT-TS2 gene using advanced NG...
SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic Test
To identify mutations in the SLC25A3 gene for the diagnosis of Mitochondrial Phosphate Carrier Defic...
MT-TQ Gene Myopathy, MT-TQ related NGS Genetic Test
To diagnose MT-TQ gene myopathy by identifying mutations in the MT-TQ gene using next-generation seq...
TRPM4 Gene Progressive familial heart block NGS Genetic Test
To diagnose progressive familial heart block by detecting mutations in the TRPM4 gene, aiding in cli...
GATA6 Gene Pancreatic agenesis and congenital heart defects NGS Genetic Test
To identify mutations in the GATA6 gene that cause pancreatic agenesis and congenital heart defects,...
AGK Gene Sengers syndrome NGS Genetic Test
To diagnose Sengers syndrome by identifying mutations in the AGK gene using Next-Generation Sequenci...
EIF2AK4 Gene Pulmonary venoocclusive disease type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the EIF2AK4 gene that cause Pulmonary Venoocclu...
KCNJ2 Gene Short QT syndrome type 3 NGS Genetic Test
To identify pathogenic mutations in the KCNJ2 gene associated with Short QT Syndrome Type 3, enablin...
CACNA1D Gene Sinoatrial node dysfunction and deafness NGS Genetic Test
The purpose of the CACNA1D Gene Test is to identify genetic mutations or variants in the CACNA1D gen...
MYH6 Gene Sick sinus syndrome type 3 NGS Genetic Test
To detect mutations in the MYH6 gene associated with sick sinus syndrome type 3, aiding in diagnosis...
SCN5A Gene Sudden infant death syndrome, susceptibility to NGS Genetic Test
To identify genetic mutations in the SCN5A gene that may increase susceptibility to sudden infant de...
ALDH1A2 Gene Tetralogy of Fallot NGS Genetic Test
To identify genetic mutations in the ALDH1A2 gene that may cause Tetralogy of Fallot, enabling early...
GATA4 Gene Tetralogy of Fallot NGS Genetic Test
The purpose of this test is to detect genetic mutations in the GATA4 gene that are linked to Tetralo...
ZFPM2 Gene Tetralogy of Fallot NGS Genetic Test
To detect mutations in the ZFPM2 gene associated with Tetralogy of Fallot, aiding in diagnosis, risk...
MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MED13L gene that cause transposit...
SMAD2 Gene Thoracic aortic aneurysm dissection NGS Genetic Test
The purpose of this test is to identify mutations in the SMAD2 gene associated with thoracic aortic...
CITED2 Gene Ventricular septal defect type 2 NGS Genetic Test
To identify genetic mutations in the CITED2 gene associated with Ventricular Septal Defect type 2, a...
GATA4 Gene Ventricular septal defect type 1 NGS Genetic Test
To confirm a diagnosis of GATA4 gene-related ventricular septal defect type 1 through advanced genet...
RYR2 Gene Ventricular tachycardia, catecholaminergic polymorphic type 1 NGS Genetic Test
The purpose of the RYR2 Gene CPVT NGS Genetic Test is to identify pathogenic mutations in the RYR2 g...
CALM1 Gene Ventricular tachycardia, catecholaminergic polymorphic type 4 NGS Genetic Test
To detect mutations in the CALM1 gene that cause catecholaminergic polymorphic ventricular tachycard...
PRKAG2 Gene Wolff -Parkinson-White syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the PRKAG2 gene associated with Wolff-Parkinson-W...
HTRA1 Gene CARASIL NGS Genetic Test
To identify mutations in the HTRA1 gene associated with CARASIL for diagnostic purposes and genetic...
RASA1 Gene Capillary malformation-arteriovenous malformation NGS Genetic Test
The purpose of this test is to detect mutations in the RASA1 gene that cause Capillary Malformation-...
PPARG Gene Carotid intimal medial thickness type 1 NGS Genetic Test
The purpose of this test is to identify genetic variations in the PPARG gene that are associated wit...
KRIT1 Gene Cerebral cavernous malformations type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the KRIT1 gene to diagnose cerebral cavernous m...
CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic Test
To diagnose mutations in the CCM2 gene causing cerebral cavernous malformations type 2, enabling ear...
MCTP2 Gene Coarctation of the aorta NGS Genetic Test
To identify mutations in the MCTP2 gene that may cause coarctation of the aorta, facilitating early...
ITGA2 Gene Glycoprotein Ia C807T polymorphism NGS Genetic Test
The purpose of this test is to detect the ITGA2 C807T polymorphism to assess genetic risk for arteri...
JAM3 Gene Hemorrhagic destruction of the brain, subependymal calcification, and cataracts NGS Genetic Test
To detect genetic mutations in the JAM3 gene associated with hemorrhagic destruction of the brain, s...
NR3C2 Gene Hypertension early onset NGS Genetic Test
To identify mutations in the NR3C2 gene associated with early onset hypertension for accurate diagno...
CYP3A5 Gene Hypertension, salt-sensitive essential, susceptibility to NGS Genetic Test
To identify genetic susceptibility to salt-sensitive hypertension through CYP3A5 gene analysis, enab...
ADD2 Gene Hypertension, ADD2 related NGS Genetic Test
The purpose of this test is to identify genetic variations in the ADD2 gene that may be associated w...
NOS2 Gene Hypertension, susceptibility to NGS Genetic Test
To determine an individual's genetic susceptibility to hypertension by analyzing variations in the N...
TGFB2 Gene Loeys-Dietz syndrome type 4 NGS Genetic Test
The purpose of this test is to detect mutations in the TGFB2 gene associated with Loeys-Dietz Syndro...
GUCY1A3 Gene Moyamoya type 6 with achalasia NGS Genetic Test
To diagnose Moyamoya type 6 with Achalasia by identifying mutations in the GUCY1A3 gene using NGS te...
SERPINE1 Gene Plasminogen activator inhibitor type 1 NGS Genetic Test
To identify mutations or variations in the SERPINE1 gene that may increase the risk of vascular dise...
SLC6A2 Gene Orthostatic intolerance NGS Genetic Test
The purpose of the SLC6A2 Gene Orthostatic Intolerance NGS Genetic Test is to identify genetic varia...
RASA1 Gene Parkes Weber syndrome NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Parkes Weber syndrome by detecting mutations i...
PROC Gene Protein C Deficiency, AD NGS Genetic Test
The purpose of the AD NGS Genetic Test is to identify mutations in the PROC gene that cause Protein...
ADA2 Gene Polyarteritis nodosa, childhood-onset NGS Genetic Test
To identify pathogenic mutations in the ADA2 gene that cause childhood-onset Polyarteritis Nodosa, a...
PROS1 Gene Protein S Deficiency, autosomal dominant NGS Genetic Test
To diagnose PROS1 gene mutations causing protein S deficiency, assess thrombosis risk, guide treatme...
CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic Test
The purpose of the CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic Test is to identify mutatio...
BMPR2 Gene Pulmonary hypertension, primary type NGS Genetic Test
To diagnose BMPR2 gene mutations causing hereditary pulmonary arterial hypertension, enabling early...
ADA2 Gene Sneddon syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the ADA2 gene that cause Sneddon syndrome, aidi...
F2 Gene Thrombophilia due to thrombin defect NGS Genetic Test
The purpose of this test is to detect mutations in the F2 gene that cause thrombophilia, helping to...
GNA13 Gene Vascular system defects due to GNA13 deficiency NGS Genetic Test
The purpose of the GNA13 Gene NGS Genetic Test is to identify mutations in the GNA13 gene that cause...
ELN Gene Supravalvar aortic stenosis NGS Genetic Test
The purpose of this test is to identify mutations in the ELN gene that cause Supravalvar Aortic Sten...
CALCRL Gene Vascular system defects due to CALCRL deficiency NGS Genetic Test
The purpose of the CALCRL Gene NGS Genetic Test is to identify mutations or deficiencies in the CALC...
MT-TY Gene Focal segmental glomerulosclerosis and dilated cardiomyopath, MT-TY related NGS Genetic Test
The purpose of the MT-TY Gene NGS Genetic Test is to diagnose Focal Segmental Glomerulosclerosis and...
GATA4 Gene Atrial septal defect type 2 NGS Genetic Test
To detect mutations in the GATA4 gene associated with atrial septal defect type 2 (ASD2) for diagnos...
MTHFR Gene Mutation Qualitative PCR Test
The purpose of the MTHFR Gene Mutation Qualitative PCR Test is to detect the presence of clinically...
F2 Gene Factor II deficiency NGS Genetic Test
To identify pathogenic mutations in the F2 gene and associated coagulation genes using NGS technolog...
F5 Gene Factor V deficiency NGS Genetic Test
To identify mutations in the F5 gene associated with Factor V deficiency for diagnosis and genetic c...
F13B Gene Factor XIIIB deficiency NGS Genetic Test
To diagnose genetic mutations in the F13B gene causing factor XIII deficiency, aiding in clinical ma...
F11 Gene Factor XI deficiency NGS Genetic Test
To identify pathogenic mutations in the F11 gene that cause Factor XI deficiency, enabling accurate...
F13A1 Gene Factor XIIIA deficiency NGS Genetic Test
The purpose of the F13A1 Gene Factor XIIIA deficiency NGS Genetic Test is to identify mutations in t...
F12 Gene Factor XII deficiency NGS Genetic Test
To diagnose Factor XII deficiency by identifying mutations in the F12 gene using next-generation seq...
GFI1B Gene Bleeding disorder, platelet-type 17 NGS Genetic Test
To identify mutations in the GFI1B gene that cause Platelet-Type 17 Bleeding Disorder, aiding in dia...
Factor II Mutation Screening (F2 - G20210A)
The purpose of Factor II Mutation Screening is to detect the F2-G20210A mutation to assess an indivi...
Factor V Leiden Detection (RNA Detection) Qualitative Test
The purpose of the Factor V Leiden Detection (RNA Detection) Qualitative Test is to diagnose the pre...
Plasminogen Activator Inhibitor-1/SERPINE-1 4G/5G Genotyping Test
Screens for genetic susceptibility for venous thromboembolism (VTE) or myocardial infarction (MI) in...
Prothrombin Time Studies Test
To detect the prothrombin G20210A mutation, which increases the risk of venous thromboembolism (VTE)...
GP1BA Gene Bernard Soulier syndrome type A2 NGS Genetic Test
The purpose of the GP1BA Gene Bernard Soulier Syndrome Type A2 NGS Genetic Test is to detect mutatio...
Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion Analysis)
The purpose of this test is to detect the intron 22 inversion mutation in the F8 gene, which is the...
Nx Gen Sequencing: Albinism Test
The purpose of the Nx Gen Sequencing: Albinism Test is to confirm a diagnosis of albinism, identify...
ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test
To diagnose Dyschromatosis Symmetrica Hereditaria by detecting pathogenic mutations in the ADAR gene...
HR Gene Atrichia with papular lesions NGS Genetic Test
To diagnose mutations in the HR gene associated with Atrichia with Papular Lesions for accurate iden...
ENPP1 Gene Cole disease NGS Genetic Test
The purpose of this test is to detect mutations in the ENPP1 gene to diagnose Cole disease, a rare g...
KRT14 Gene Epidermolysis bullosa simplex, autosomal recessive type 1 NGS Genetic Test
The purpose of the KRT14 Gene EBS NGS Genetic Test is to detect mutations in the KRT14 gene that cau...
MMP1 Gene Epidermolysis bullosa dystrophica, autosomal recessive, modifier of NGS Genetic Test
To identify mutations or variations in the MMP1 gene that serve as genetic modifiers for autosomal r...
COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test
To identify mutations in the COL7A1 gene for accurate diagnosis of Epidermolysis Bullosa Dystrophica...
KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test
To identify mutations in the KRT14 gene associated with Epidermolysis Bullosa Simplex, Dowling-Meara...
LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test
The purpose of this test is to identify mutations in the LAMA3 gene using next-generation sequencing...
ITGA6 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test
To diagnose Epidermolysis Bullosa with Pyloric Atresia caused by ITGA6 gene mutations, confirm clini...
PLEC Gene Epidermolysis bullosa simplex, Ogna type NGS Genetic Test
To identify mutations in the PLEC gene for accurate diagnosis of Epidermolysis Bullosa Simplex, Ogna...
DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic Test
To identify mutations in the DST gene responsible for Epidermolysis Bullosa Simplex, Autosomal Reces...
LAMC2 Gene Epidermolysis bullosa, junctional NGS Genetic Test
The purpose of this genetic test is to identify pathogenic mutations in the LAMC2 gene associated wi...
KRT14 Gene Epidermolysis bullosa simplex, Koebner type NGS Genetic Test
The purpose of this test is to identify mutations in the KRT14 gene that cause Epidermolysis Bullosa...
COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic Test
To identify pathogenic mutations in the COL17A1 gene for the diagnosis of junctional epidermolysis b...
KRT5 Gene Epidermolysis bullosa simplex NGS Genetic Test
To identify mutations in the KRT5 gene for the diagnosis of Epidermolysis Bullosa Simplex (EBS).
KRT14 Gene Epidermolysis bullosa simplex, Weber-Cockayne type NGS Genetic Test
The purpose of the KRT14 Gene NGS Genetic Test is to identify pathogenic mutations in the KRT14 gene...
ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the ITGB4 gene...
LAMA3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic Test
The purpose of the LAMA3 Gene NGS Genetic Test is to identify mutations in the LAMA3 gene associated...
LAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic Test
To identify pathogenic mutations in the LAMB3 gene for accurate diagnosis and management of junction...
LAMB3 Gene Epidermolysis bullosa, junctional, non-Herlitz type NGS Genetic Test
To identify mutations in the LAMB3 gene for accurate diagnosis of junctional epidermolysis bullosa n...
KRT10 Gene Epidermolytic hyperkeratosis NGS Genetic Test
To diagnose Epidermolytic Hyperkeratosis and determine the specific mutation in the KRT10 gene for t...
DSP Gene Epidermolysis bullosa, lethal acantholytic NGS Genetic Test
To identify mutations in the DSP gene associated with lethal acantholytic epidermolysis bullosa for...
EXPH5 Gene Epidermolysis bullosa, nonspecific, autosomal recessive NGS Genetic Test
To identify mutations in the EXPH5 gene for definitive diagnosis of autosomal recessive epidermolysi...
KRT9 Gene Epidermolytic palmoplantar keratoderma NGS Genetic Test
The purpose of the KRT9 Gene Epidermolytic Palmoplantar Keratoderma NGS Genetic Test is to accuratel...
KRT1 Gene Epidermolytic hyperkeratosis NGS Genetic Test
To confirm the diagnosis of Epidermolytic Hyperkeratosis, identify specific mutations in the KRT1 ge...
CERS3 Gene Ichthyosis, congenital, autosomal recessive, type 9 NGS Genetic Test
The purpose of the CERS3 Gene Ichthyosis NGS Genetic Test is to identify mutations in the CERS3 gene...
STS Gene Ichthyosis, X-linked NGS Genetic Test
To identify mutations in the STS gene for accurate diagnosis and management of X-linked Ichthyosis,...
ABCA12 Gene Ichthyosis, lamellar type 2 NGS Genetic Test
The purpose of the ABCA12 Gene Ichthyosis, Lamellar Type 2 NGS Genetic Test is to accurately diagnos...
LIPN Gene Ichthyosis, lamellar type 4 NGS Genetic Test
To diagnose LIPN gene mutations causing lamellar ichthyosis type 4, enabling accurate identification...
CLDN1 Gene Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the CLDN1 gene to confirm diagnosis of...
SLURP1 Gene Mal de Meleda NGS Genetic Test
To diagnose Mal de Meleda by identifying mutations in the SLURP1 gene using NGS technology, enabling...
ADAM10 Gene Reticulate acropigmentation of Kitamura NGS Genetic Test
The purpose of this test is to identify mutations in the ADAM10 gene for the diagnosis of reticulate...
DSP Gene Skin fragility-woolly hair syndrome NGS Genetic Test
To identify pathogenic mutations in the DSP gene for diagnosis of Skin Fragility-Woolly Hair Syndrom...
SLC24A4 Gene Skin hair eye pigmentation type 6 NGS Genetic Test
The purpose of this test is to detect mutations in the SLC24A4 gene that may cause variations in ski...
CYLD Gene Cylindromatosis, familial NGS Genetic Test
To detect mutations in the CYLD gene for accurate diagnosis of familial cylindromatosis, aiding in c...
Hair Loss DNA Test
The purpose of this test is to identify genetic predisposition to hair loss by analyzing the AR gene...
DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic Test
The purpose of this test is to sequence the DST gene and detect disease-causing mutations associated...
Comprehensive Skin Panel NGS Genetic Test
The purpose of this test is to diagnose genetic skin disorders, identify mutations responsible for s...
PSEN1 Gene Acne inversa familial type 3 NGS Genetic Test
The purpose of the PSEN1 Gene Acne inversa familial type 3 NGS Genetic Test is to confirm the diagno...
ATP2A2 Gene Acrokeratosis verruciformis NGS Genetic Test
To confirm the diagnosis of acrokeratosis verruciformis by identifying mutations in the ATP2A2 gene...
DOCK6 Gene Adams-Oliver syndrome type 2 NGS Genetic Test
To detect mutations in the DOCK6 gene for definitive diagnosis of Adams-Oliver Syndrome Type 2, aidi...
EOGT Gene Adams-Oliver syndrome type 4 NGS Genetic Test
The purpose of this test is to detect mutations in the EOGT gene associated with Adams-Oliver Syndro...
SMARCAD1 Gene Adermatoglyphia NGS Genetic Test
To identify pathogenic mutations in the SMARCAD1 gene for the diagnosis of adermatoglyphia, aiding i...
SLC24A5 Gene Albinism, oculocutaneous nonsyndromic NGS Genetic Test
To diagnose oculocutaneous albinism caused by SLC24A5 gene mutations, guide treatment and management...
TYR Gene Albinism, oculocutaneous type 1A NGS Genetic Test
The purpose of this test is to detect mutations in the TYR gene that cause oculocutaneous albinism t...
TYR Gene Albinism, oculocutaneous type 1B NGS Genetic Test
To detect mutations in the TYR gene for definitive diagnosis of oculocutaneous albinism type 1B, gui...
TYRP1 Gene Albinism, oculocutaneous type 3 NGS Genetic Test
To identify pathogenic variants in the TYRP1 gene for diagnosing oculocutaneous albinism type 3, gui...
SLC45A2 Gene Albinism, oculocutaneous type 4 NGS Genetic Test
The purpose of the SLC45A2 Gene Albinism, Oculocutaneous Type 4 NGS Genetic Test is to diagnose OCA4...
HR Gene Alopecia universalis NGS Genetic Test
To identify mutations in the HR gene associated with alopecia universalis for early diagnosis, sympt...
AMBN Gene Amelogenesis imperfecta type 1F NGS Genetic Test
The purpose of this test is to detect mutations in the AMBN gene associated with Amelogenesis Imperf...
OSMR Gene Amyloidosis, primary localized cutaneous, type 1 NGS Genetic Test
To detect mutations in the OSMR gene for diagnosis of primary localized cutaneous amyloidosis type 1...
IL31RA Gene Amyloidosis, primary localized cutaneous, type 2 NGS Genetic Test
To identify mutations in the IL31RA gene for accurate diagnosis, management, and family counseling i...
FGFR2 Gene Craniofacial-skeletal-dermatologic dysplasia NGS Genetic Test
The purpose of this test is to detect mutations in the FGFR2 gene to confirm a diagnosis of craniofa...
FGFR3 Gene Crouzon syndrome with acanthosis nigricans NGS Genetic Test
To identify pathogenic mutations in the FGFR3 gene associated with Crouzon Syndrome with Acanthosis...
FBLN5 Gene Cutis laxa type 1A, autosomal recessive NGS Genetic Test
The purpose of the FBLN5 Gene Cutis Laxa Type 1A NGS Genetic Test is to detect mutations in the FBLN...
EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic Test
To diagnose Cutis Laxa Type 1B by detecting pathogenic mutations in the EFEMP2 gene using Next-Gener...
FBLN5 Gene Cutis laxa type 2, autosomal dominant NGS Genetic Test
To diagnose Cutis Laxa Type 2 by detecting mutations in the FBLN5 gene using NGS technology, aiding...
PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic Test
To diagnose Cutis Laxa Type 2B caused by mutations in the PYCR1 gene, enabling accurate identificati...
ATP6V0A2 Gene Cutis laxa type 2A, autosomal recessive NGS Genetic Test
The purpose of the ATP6V0A2 Gene Cutis Laxa Type 2A NGS Genetic Test is to diagnose Cutis Laxa Type...
ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive NGS Genetic Test
The purpose of the ALDH18A1 Gene Cutis Laxa Type 3A NGS Genetic Test is to detect mutations in the A...
ELN Gene Cutis laxa, autosomal dominant NGS Genetic Test
To identify mutations in the ELN gene for diagnosis of autosomal dominant cutis laxa, assess disease...
PYCR1 Gene Cutis laxa type 3B, autosomal recessive NGS Genetic Test
The purpose of this test is to detect mutations in the PYCR1 gene to confirm a diagnosis of Cutis La...
KRT14 Gene Dermatopathia pigmentosa reticularis NGS Genetic Test
To identify mutations in the KRT14 gene for accurate diagnosis, treatment planning, and management o...
FLG Gene Dermatitis, atopic type 2 NGS Genetic Test
To identify genetic mutations in the FLG gene that contribute to the development of atopic dermatiti...
NOP10 Gene Dyskeratosis congenita, autosomal recessive type 1 NGS Genetic Test
To identify mutations in the NOP10 gene for diagnosis of dyskeratosis congenita, autosomal recessive...
RTEL1 Gene Dyskeratosis congenita, autosomal recessive type 5 NGS Genetic Test
The purpose of this test is to diagnose RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type...
ABCB6 Gene Dyschromatosis universalis hereditaria type 3 NGS Genetic Test
The purpose of the ABCB6 Gene DUH3 NGS Genetic Test is to detect mutations in the ABCB6 gene that ca...
PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic Test
To diagnose PARN Gene Dyskeratosis Congenita, Autosomal Recessive Type 6 by detecting mutations in t...
KRT85 Gene Ectodermal dysplasia type 4, hair/nail type NGS Genetic Test
To detect pathogenic mutations in the KRT85 gene associated with ectodermal dysplasia type 4, hair/n...
GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test
To identify mutations in the GJB6 gene for accurate diagnosis of ectodermal dysplasia, hidrotic, ena...
EDAR Gene Ectodermal dysplasia, hypohidrotic, autosomal recessive NGS Genetic Test
To diagnose EDAR gene ectodermal dysplasia through genetic testing for accurate identification and m...
EDARADD Gene Ectodermal dysplasia, hypohidrotic, autosomal recessive NGS Genetic Test
The purpose of the EDARADD gene NGS genetic test is to identify mutations in the EDARADD gene respon...
EDA Gene Ectodermal dysplasia, hypohidrotic, X-linked NGS Genetic Test
To identify pathogenic mutations in the EDA gene that cause X-linked hypohidrotic ectodermal dysplas...
IKBKG Gene Ectodermal dysplasia, hypohidrotic, with immune deficiency NGS Genetic Test
To detect mutations in the IKBKG gene responsible for ectodermal dysplasia with immune deficiency, e...
TNXB Gene Ehlers-Danlos syndrome type 3 NGS Genetic Test
To diagnose Ehlers-Danlos Syndrome Type 3 by identifying mutations in the TNXB gene using Next-Gener...
PKP1 Gene Ectodermal dysplasia/skin fragility syndrome NGS Genetic Test
To diagnose ectodermal dysplasia/skin fragility syndrome by identifying mutations in the PKP1 gene u...
COL1A2 Gene Ehlers-Danlos syndrome type 7B NGS Genetic Test
To identify mutations in the COL1A2 gene causing Ehlers-Danlos Syndrome Type 7B for accurate diagnos...
FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the FKBP14 gene that cause Ehlers-Danlo...
ADAMTS2 Gene Ehlers-Danlos syndrome type 7C NGS Genetic Test
To diagnose Ehlers-Danlos Syndrome Type 7C by detecting mutations in the ADAMTS2 gene using NGS tech...
B3GALT6 Gene Ehlers-Danlos syndrome, progeroid type, type 2 NGS Genetic Test
To identify pathogenic mutations in the B3GALT6 gene for definitive diagnosis of Ehlers-Danlos Syndr...
DSG1 Gene Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE NGS Genetic Test
To diagnose DSG1 gene erythroderma through genetic sequencing, enabling accurate identification of p...
GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test
To diagnose Erythrokeratodermia variabilis et progressive (EKVP) by identifying pathogenic mutations...
GJB4 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test
The purpose of this test is to detect mutations in the GJB4 gene to confirm a diagnosis of Erythroke...
PORCN Gene Focal dermal hypoplasia NGS Genetic Test
To diagnose Focal Dermal Hypoplasia by analyzing the PORCN gene for mutations using NGS technology,...
GORAB Gene Geroderma osteodysplasticum NGS Genetic Test
To identify mutations in the GORAB gene for diagnosis of Geroderma osteodysplasticum.
MYO5A Gene Griscelli syndrome type 1 NGS Genetic Test
To diagnose Griscelli Syndrome Type 1 by detecting pathogenic mutations in the MYO5A gene using Next...
MLPH Gene Griscelli syndrome type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the MLPH gene to confirm a diagnosis of Griscelli...
CTSC Gene Haim-Munk syndrome NGS Genetic Test
The purpose of the CTSC Gene Haim-Munk Syndrome NGS Genetic Test is to identify mutations in the CTS...
DSC3 Gene Hypotrichosis and recurrent skin vesicles NGS Genetic Test
To identify mutations in the DSC3 gene for accurate diagnosis of hypotrichosis and recurrent skin ve...
APCDD1 Gene Hypotrichosis type 1 NGS Genetic Test
The purpose of the APCDD1 Gene Hypotrichosis Type 1 NGS Genetic Test is to detect pathogenic mutatio...
SNRPE Gene Hypotrichosis type 11 NGS Genetic Test
The purpose of this test is to diagnose SNRPE Gene Hypotrichosis Type 11 by detecting mutations in t...
KRT71 Gene Hypotrichosis type 13 NGS Genetic Test
To diagnose mutations in the KRT71 gene causing hypotrichosis type 13, enabling early management, ge...
RPL21 Gene Hypotrichosis type 12 NGS Genetic Test
The purpose of the RPL21 Gene Hypotrichosis Type 12 NGS Genetic Test is to detect mutations in the R...
CDSN Gene Hypotrichosis type 2 NGS Genetic Test
The purpose of the CDSN Gene Hypotrichosis Type 2 NGS Genetic Test is to identify mutations in the C...
HR Gene Hypotrichosis type 4 NGS Genetic Test
The purpose of this test is to detect mutations in the HR gene to diagnose Hypotrichosis type 4, ena...
KRT74 Gene Hypotrichosis type 3 NGS Genetic Test
To diagnose Hypotrichosis Type 3 by identifying mutations in the KRT74 gene, aiding in clinical mana...
DSG4 Gene Hypotrichosis type 6 NGS Genetic Test
The purpose of this test is to identify mutations in the DSG4 gene to diagnose Hypotrichosis Type 6,...
LPAR6 Gene Hypotrichosis type 8 NGS Genetic Test
To diagnose LPAR6 Gene Hypotrichosis Type 8 through genetic analysis, confirm mutations in the LPAR6...
LIPH Gene Hypotrichosis type 7 NGS Genetic Test
The purpose of this test is to detect mutations in the LIPH gene to confirm a diagnosis of hypotrich...
SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome NGS Genetic Test
To identify pathogenic mutations in the SOX18 gene for accurate diagnosis of Hypotrichosis-lymphedem...
ALOXE3 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test
The purpose of the ALOXE3 Gene NGS Genetic Test is to confirm the diagnosis of congenital nonbullous...
NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test
To diagnose congenital nonbullous ichthyosiform erythroderma type 1 by detecting pathogenic mutation...
ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic Test
The purpose of the ABCA12 gene NGS genetic test is to confirm the presence of mutations in the ABCA1...
PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic Test
To confirm a diagnosis of PNPLA1 gene ichthyosis congenital or to determine carrier status for the c...
SLC27A4 Gene Ichthyosis prematurity syndrome NGS Genetic Test
To detect mutations in the SLC27A4 gene for diagnosis of Ichthyosis Prematurity Syndrome, aiding in...
FLG Gene Ichthyosis vulgaris NGS Genetic Test
To identify mutations in the FLG gene that cause Ichthyosis Vulgaris, confirming diagnosis and guidi...
KRT2 Gene Ichthyosis, bullous type NGS Genetic Test
To confirm the diagnosis of bullous ichthyosis caused by KRT2 gene mutations, guide treatment decisi...
TGM1 Gene Ichthyosis, congenital, autosomal recessive type 1 NGS Genetic Test
To confirm the diagnosis of TGM1 gene ichthyosis by identifying pathogenic mutations in the TGM1 gen...
ST14 Gene Ichthyosis, congenital, autosomal recessive, type 11 NGS Genetic Test
To diagnose congenital ichthyosis autosomal recessive type 11 caused by ST14 gene mutations, enablin...
CYP4F22 Gene Ichthyosis, lamellar type 3 NGS Genetic Test
The purpose of this test is to diagnose lamellar type 3 ichthyosis by identifying pathogenic mutatio...
ADAM17 Gene Inflammatory skin and bowel disease, neonatal, type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the ADAM17 gene to diagnose inflammatory skin and...
IKBKG Gene Incontinentia pigmenti type 2 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the IKBKG gene to confirm a diagnosis...
POMP Gene Keratosis linearis with ichthyosis congenita and sclerosing keratoderma NGS Genetic Test
To identify mutations in the POMP gene for definitive diagnosis of Keratosis linearis with ichthyosi...
MBTPS2 Gene Keratosis follicularis spinulosa declavans, X-linked NGS Genetic Test
To diagnose Keratosis follicularis spinulosa declavans by identifying mutations in the MBTPS2 gene u...
FERMT1 Gene Kindler syndrome NGS Genetic Test
The purpose of the FERMT1 Gene Kindler Syndrome NGS Genetic Test is to identify mutations in the FER...
FBLIM1 Gene Kindler syndrome NGS Genetic Test
The purpose of the FBLIM1 Gene Kindler Syndrome NGS Genetic Test is to diagnose Kindler syndrome by...
DSG1 Gene Keratosis palmoplantaris striata type 1 NGS Genetic Test
To diagnose Keratosis Palmoplantaris Striata Type 1 by identifying mutations in the DSG1 gene using...
DSP Gene Keratosis palmoplantaris striata type 2 NGS Genetic Test
To identify mutations in the DSP gene for diagnosis of Keratosis Palmoplantaris Striata Type 2.
AAGAB Gene Keratoderma, palmoplantar, punctate type 1A NGS Genetic Test
The purpose of the AAGAB Gene Keratoderma NGS Genetic Test is to identify pathogenic mutations in th...
LAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic Test
To confirm the diagnosis of Laryngoonychocutaneous syndrome by detecting mutations in the LAMA3 gene...
SPRED1 Gene Legius syndrome NGS Genetic Test
To diagnose Legius Syndrome by detecting pathogenic mutations in the SPRED1 gene using NGS technolog...
KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic Test
To confirm diagnosis of Naegeli-Franceschetti-Jadassohn syndrome by detecting mutations in the KRT14...
SPINK5 Gene Netherton syndrome NGS Genetic Test
To diagnose Netherton Syndrome by identifying mutations in the SPINK5 gene using next-generation seq...
TRPV3 Gene Olmsted syndrome NGS Genetic Test
To diagnose Olmsted Syndrome by detecting mutations in the TRPV3 gene using Next-Generation Sequenci...
WNT10A Gene Odontoonychodermal dysplasia NGS Genetic Test
To identify mutations in the WNT10A gene for accurate diagnosis of Odontoonychodermal dysplasia, ena...
GNAS Gene Osseous heteroplasia, progressive NGS Genetic Test
The purpose of this test is to detect mutations in the GNAS gene that cause progressive osseous hete...
KRT16 Gene Pachyonychia congenita type 1 NGS Genetic Test
To diagnose Pachyonychia Congenita Type 1 by detecting mutations in the KRT16 gene using NGS technol...
KRT17 Gene Pachyonychia congenita type 2 NGS Genetic Test
To identify mutations in the KRT17 gene for accurate diagnosis of Pachyonychia congenita type 2, aid...
KRT6A Gene Pachyonychia congenita type 3 NGS Genetic Test
The purpose of the KRT6A Gene Pachyonychia Congenita Type 3 NGS Genetic Test is to identify mutation...
KRT6B Gene Pachyonychia congenita type 4 NGS Genetic Test
To identify mutations in the KRT6B gene for accurate diagnosis of Pachyonychia congenita type 4, ena...
KRT16 Gene Palmoplantar keratoderma, nonepidermolytic, focal NGS Genetic Test
The purpose of this test is to confirm a diagnosis of KRT16 Gene Palmoplantar Keratoderma by identif...
TGM5 Gene Peeling skin syndrome type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the TGM5 gene to confirm diagnosis of peeling s...
CDSN Gene Peeling skin syndrome type 1 NGS Genetic Test
To detect mutations in the CDSN gene for diagnosis of Peeling Skin Syndrome Type 1.
CTSC Gene Papillon-Lefevre syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the CTSC gene associated with Papillon-Lefevre...
CHST8 Gene Peeling skin syndrome type 3 NGS Genetic Test
To detect mutations in the CHST8 gene for the diagnosis of Peeling Skin Syndrome Type 3.
CAST Gene Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads NGS Genetic Test
To diagnose PPK-SC by identifying pathogenic mutations in the CAST gene using NGS technology, enabli...
KIT Gene Piebaldism NGS Genetic Test
The purpose of the KIT Gene Piebaldism NGS Genetic Test is to confirm the diagnosis of piebaldism by...
CARD14 Gene Pityriasis rubra pilaris NGS Genetic Test
To identify mutations in the CARD14 gene associated with Pityriasis rubra pilaris (PRP), aiding in d...
SNAI2 Gene Piebaldism NGS Genetic Test
The purpose of the SNAI2 Gene Piebaldism NGS Genetic Test is to identify pathogenic mutations in the...
MVK Gene Porokeratosis type 3, disseminated superficial actinic NGS Genetic Test
The purpose of this test is to confirm the diagnosis of DSAP by identifying mutations in the MVK gen...
ABCC6 Gene Pseudoxanthoma elasticum, forme fruste NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ABCC6 gene using NGS technology...
UROD Gene Porphyria cutanea tarda NGS Genetic Test
The purpose of this test is to diagnose Porphyria Cutanea Tarda by identifying mutations in the UROD...
IL12B Gene Psoriasis susceptibility type 11 NGS Genetic Test
To diagnose genetic susceptibility to psoriasis type 11 by analyzing IL12B gene variants using NGS t...
CARD14 Gene Psoriasis type 2 NGS Genetic Test
To diagnose psoriasis type 2 by identifying mutations in the CARD14 gene using Next Generation Seque...
IL36RN Gene Psoriasis, generalized pustular NGS Genetic Test
To diagnose IL36RN gene mutations associated with psoriasis and generalized pustular psoriasis, aidi...
ZMPSTE24 Gene Restrictive dermopathy, lethal NGS Genetic Test
The purpose of this test is to diagnose restrictive dermopathy by identifying pathogenic variants in...
LMNA Gene Restrictive dermopathy, lethal NGS Genetic Test
To diagnose restrictive dermopathy by detecting pathogenic mutations in the LMNA gene using next-gen...
FBN1 Gene Stiff skin syndrome NGS Genetic Test
The purpose of the FBN1 Gene Stiff Skin Syndrome NGS Genetic Test is to identify mutations in the FB...
KRT17 Gene Steatocystoma multiplex NGS Genetic Test
The purpose of the KRT17 Gene Steatocystoma Multiplex NGS Genetic Test is to detect mutations in the...
MPLKIP Gene Trichothiodystrophy, nonphotosensitive type 1 NGS Genetic Test
To diagnose nonphotosensitive type 1 Trichothiodystrophy by identifying pathogenic mutations in the...
ERCC2 Gene Trichothiodystrophy NGS Genetic Test
To diagnose Trichothiodystrophy by identifying mutations in the ERCC2 gene using NGS technology.
GTF2H5 Gene Trichothiodystrophy NGS Genetic Test
The purpose of the GTF2H5 Gene Trichothiodystrophy NGS Genetic Test is to diagnose Trichothiodystrop...
UVSSA Gene UV-sensitive syndrome type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the UVSSA gene to diagnose UV-sensitive syndrome...
ERCC6 Gene UV-sensitive syndrome type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ERCC6 gene associated with UV-se...
LORICRIN Gene Vohwinkel syndrome with ichthyosis NGS Genetic Test
The purpose of the LORICRIN Gene Vohwinkel Syndrome with Ichthyosis NGS Genetic Test is to diagnose...
SOX10 Gene Waardenburg syndrome type 2E NGS Genetic Test
To identify mutations in the SOX10 gene for accurate diagnosis of Waardenburg Syndrome Type 2E, aidi...
SOX10 Gene Waardenburg syndrome type 4C NGS Genetic Test
The purpose of this test is to identify mutations in the SOX10 gene that cause Waardenburg syndrome...
XPA Gene Xeroderma pigmentosum, group A NGS Genetic Test
To diagnose Xeroderma pigmentosum group A by detecting mutations in the XPA gene using NGS technolog...
ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic Test
To diagnose Wrinkly Skin Syndrome by identifying mutations in the ATP6V0A2 gene, confirm clinical su...
ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test
The purpose of the ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test is to identify mutatio...
ERCC4 Gene Xeroderma pigmentosum, group F NGS Genetic Test
The purpose of this test is to diagnose Xeroderma pigmentosum, group F by detecting pathogenic mutat...
DDB2 Gene Xeroderma pigmentosum, group E, DDB-negative subtype NGS Genetic Test
The purpose of the DDB2 Gene Xeroderma Pigmentosum, Group E NGS Genetic Test is to identify mutation...
XPC Gene Xeroderma pigmentosum, group C NGS Genetic Test
To diagnose Xeroderma Pigmentosum Group C by detecting mutations in the XPC gene using NGS technolog...
ERCC5 Gene Xeroderma pigmentosum, group G NGS Genetic Test
The purpose of the ERCC5 Gene Xeroderma pigmentosum, group G NGS Genetic Test is to identify mutatio...
POLH Gene Xeroderma pigmentosum, variant type NGS Genetic Test
To diagnose Xeroderma pigmentosum variant type by detecting pathogenic variants in the POLH gene usi...
CYLD Gene Trichoepithelioma, multiple familial, type 1 NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of multiple familial trichoepith...
Nx Gen Sequencing: Usher Syndrome Test
To diagnose Usher syndrome by identifying genetic mutations in associated genes using next-generatio...
Nx Gen Sequencing: Retinitis Pigmentosa Test
The purpose of the Nx Gen Sequencing: Retinitis Pigmentosa Test is to identify pathogenic or likely...
PDE6H Gene Achromatopsia Type 6 NGS Genetic Test
The primary purpose of the PDE6H Gene Achromatopsia Type 6 NGS Genetic Test is to identify pathogeni...
CACNA1F Gene Aland Island Eye Disease NGS Genetic Test
To diagnose Aland Island Eye Disease by identifying pathogenic mutations in the CACNA1F gene through...
TGFBI Gene Corneal Dystrophy, Epithelial Basement Membrane NGS Genetic Test
The primary purpose of the TGFBI Gene Corneal Dystrophy NGS Genetic Test is to identify pathogenic o...
ADAMTSL4 Gene Ectopia Lentis Et Pupillae NGS Genetic Test
The purpose of the ADAMTSL4 Gene Ectopia Lentis et Pupillae NGS Genetic Test is to identify pathogen...
TSPAN12 Gene Exudative Vitreoretinopathy Type 5 NGS Genetic Test
The primary purpose of the TSPAN12 Gene EVR Type 5 NGS Genetic Test is to identify pathogenic or lik...
IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
The purpose of the IARS2 Gene NGS Genetic Test is to identify pathogenic mutations in the IARS2 gene...
WHRN Gene Deafness, autosomal recessive type 31 NGS Genetic Test
The purpose of the WHRN Gene Deafness Type 31 NGS Genetic Test is to identify pathogenic or likely p...
GJB2 Gene Keratoderma, palmoplantar, with deafness NGS Genetic Test
The primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the GJB...
TYRP1 Gene Albinism, Oculocutaneous Type 3 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic sequence variants in the TYRP1 gene t...
CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the CEP290 gene associated with Ba...
WFS1 Gene Cataract Type 41 NGS Genetic Test
The purpose of this NGS genetic test is to identify a clinically significant variant in the WFS1 gen...
CRYAB Gene Cataract, Posterior Polar Type 2 NGS Genetic Test
To confirm a clinical diagnosis of posterior polar cataract type 2 due to CRYAB gene mutations, iden...
NHS Gene Cataract, X-Linked NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the NHS gene associated with X-linke...
CACNA1F Gene Cone-Rod Dystrophy, X-Linked Type 3 NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the CACNA1F gene to confirm a...
LOXHD1 Gene Deafness, autosomal recessive type 77 NGS Genetic Test
The purpose of the LOXHD1 Gene Deafness autosomal recessive type 77 NGS Genetic Test is to identify...
LAMB3 Gene Amelogenesis imperfecta type 1A NGS Genetic Test
To identify mutations in the LAMB3 gene that cause Amelogenesis Imperfecta Type 1A, enabling accurat...
ENAM Gene Amelogenesis imperfecta type 1C NGS Genetic Test
To diagnose amelogenesis imperfecta type 1C by detecting pathogenic mutations in the ENAM gene using...
AMELX Gene Amelogenesis imperfecta type 1E NGS Genetic Test
To identify pathogenic mutations in the AMELX gene for diagnosis of Amelogenesis Imperfecta Type 1E,...
FAM20A Gene Amelogenesis imperfecta type 1G NGS Genetic Test
The purpose of this test is to identify mutations in the FAM20A gene to diagnose amelogenesis imperf...
KLK4 Gene Amelogenesis imperfecta type 2A1 NGS Genetic Test
To identify mutations in the KLK4 gene for accurate diagnosis of Amelogenesis Imperfecta Type 2A1, e...
WDR72 Gene Amelogenesis imperfecta type 2A3 NGS Genetic Test
The purpose of this test is to identify mutations in the WDR72 gene that cause Amelogenesis Imperfec...
DLX3 Gene Amelogenesis imperfecta type 4 NGS Genetic Test
The purpose of the DLX3 Gene Amelogenesis Imperfecta Type 4 NGS Genetic Test is to identify mutation...
DSPP Gene Dentin dysplasia, type 2 NGS Genetic Test
To identify mutations in the DSPP gene for definitive diagnosis of dentin dysplasia type 2, enabling...
DSPP Gene Dentinogenesis imperfecta, Shields type 2 NGS Genetic Test
To identify mutations in the DSPP gene that cause Dentinogenesis Imperfecta Shields type 2, aiding i...
TUFT1 Gene Tuftelin deficiency NGS Genetic Test
To identify mutations in the TUFT1 gene associated with tuftelin deficiency and tooth enamel defects...
AHNAK2 Gene Autism Spectrum Disorder NGS Genetic Test
The purpose of the AHNAK2 Gene Autism Spectrum Disorder NGS Genetic Test is to detect pathogenic mut...
KCTD3 Gene Neurodevelopmental disorder, KCTD3 related NGS Genetic Test
The purpose of the KCTD3 Gene Neurodevelopmental Disorder NGS Genetic Test is to detect mutations in...
CNTNAP4 Gene Neurodevelopmental disorder, CNTNAP4 related NGS Genetic Test
The purpose of the CNTNAP4 Gene NGS Genetic Test is to identify mutations in the CNTNAP4 gene that a...
CROCC Gene Neurodevelopmental disorder, CROCC related NGS Genetic Test
The purpose of the CROCC Gene NGS Genetic Test is to detect pathogenic or likely pathogenic mutation...
MACF1 Gene Neurodevelopmental disorder, MACF1 related NGS Genetic Test
To detect mutations in the MACF1 gene for diagnosis of MACF1-related neurodevelopmental disorders, e...
ATP1B4 Gene Autism, ATP1B4 Related NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
IQCE Gene Autism, IQCE Related NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the IQ...
C7orf43 Gene Autism, C7orf43 Related NGS Genetic Test
The purpose of this targeted NGS test is to evaluate whether a pathogenic variant in C7orf43 is pres...
OR13H1 Gene Autism, OR13H1 Related NGS Genetic Test
This NGS test is designed to identify variants in the OR13H1 gene that may contribute to autism-rela...
UNC13B Gene Autism, UNC13B Related NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the UN...
PKHD1L1 Gene Autism, PKHD1L1 Related NGS Genetic Test
The purpose of the PKHD1L1-related NGS genetic test is to detect clinically significant variants in...
MECP2 Gene Mental retardation X-linked, syndromic, Lubs type NGS Genetic Test
To detect mutations in the MECP2 gene that cause X-linked mental retardation Lubs type and related n...
FOXP1 Gene Mental retardation with language impairment and autistic features NGS Genetic Test
The purpose of this test is to detect pathogenic sequence variants in FOXP1 in individuals with inte...
GATAD2B Gene Mental retardation, autosomal dominant type 18 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the GATAD2B gene to confirm...
EEF1A2 Gene Mental retardation, autosomal dominant type 38 NGS Genetic Test
To detect pathogenic mutations in the EEF1A2 gene associated with autosomal dominant mental retardat...
KAT6A Gene Mental retardation, autosomal dominant type 32 NGS Genetic Test
The purpose of this NGS genetic test is to identify a pathogenic or likely pathogenic variant in the...
GPT2 Gene Mental retardation, autosomal recessive type 49 NGS Genetic Test
The purpose of this GPT2 gene NGS genetic test is to identify pathogenic or likely pathogenic varian...
NSUN2 Gene Mental retardation, autosomal recessive type 5 NGS Genetic Test
The primary purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants i...
ZNF311 Gene Neurodevelopmental disorder, ZNF311 related NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ZNF311 gene that may be associate...
TUBB Gene Neurodevelopmental disorder, TUBB related NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the TUBB gene in individuals with clini...
MTOR Gene Neurodevelopmental disorder, MTOR related NGS Genetic Test
To detect disease-causing mutations in the MTOR gene and other genes associated with neurodevelopmen...
ADAM22 Gene Neurodevelopmental disorder, ADAM22 related NGS Genetic Test
The primary purpose of the ADAM22 gene NGS genetic test is to identify pathogenic variants in the AD...
CALR Gene Schizophrenia, CALR related NGS Genetic Test
The purpose of this test is to detect sequence variants in the CALR gene that have been reported in...
HUWE1 Gene Mental retardation, X-linked syndromic, Turner type NGS Genetic Test
The purpose of this test is to identify mutations in the HUWE1 gene that cause X-linked syndromic in...
FOXP2 Gene Speech-language disorder type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the FOXP2 gene that cause speech-language disor...
Autism Gene Panel
The purpose of the Autism Gene Panel is to identify genetic variations associated with ASD. This can...
EN2 Gene Autism Spectrum Disorder NGS Genetic Test
To detect genetic variations in the EN2 gene associated with Autism Spectrum Disorder, facilitating...
MYO16 Gene Autism Spectrum, MYO16 Related NGS Genetic Test
This test is intended to identify mutations in the MYO16 gene that may contribute to autism spectrum...
CHD8 Gene Autism Susceptibility, Type 18 NGS Genetic Test
To detect pathogenic variants in the CHD8 gene associated with autism susceptibility type 18 and to...
RPL10 Gene Autism Susceptibility, X-Linked Type 5 NGS Genetic Test
This targeted NGS test identifies mutations in the RPL10 gene on the X chromosome. It is used to con...
EIF4E Gene Autism Susceptibility, Type 19 NGS Genetic Test
To detect sequence variants in the EIF4E gene that are associated with autism susceptibility type 19...
MECP2 Gene Autism Susceptibility, X-Linked Type 3 NGS Genetic Test
The purpose of this test is to detect clinically significant variants in the MECP2 gene that may inc...
AVPR1A Gene Autism, AVPR1A Related NGS Genetic Test
The purpose of this test is to detect clinically significant variants in the AVPR1A gene and support...
FAAH2 Gene Autism, FAAH2 Related NGS Genetic Test
The test is designed to detect genetic variants in the FAAH2 gene associated with autism spectrum di...
SETD2 Gene Autism, SETD2 Related NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the SETD2 gene that are associated with...
OXTR Gene Autism, OXTR Related NGS Genetic Test
The purpose of this NGS test is to detect clinically significant sequence variants in the OXTR gene...
RNF128 Gene Autism, RNF128 Related NGS Genetic Test
The purpose of this test is to detect clinically significant sequence variants in the RNF128 gene us...
ZNF778 Gene Autism, ZNF778 Related NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ZNF778 gene that are associated...
RRM1 Gene Autism, RRM1 Related NGS Genetic Test
The purpose of this RRM1-related NGS genetic test is to provide a molecular analysis of the RRM1 gen...
KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test
To diagnose Joubert Syndrome Type 23 by identifying mutations in the KIAA0586 gene through NGS techn...
CAT Gene Acatalasemia NGS Genetic Test
To diagnose acatalasemia by sequencing the CAT gene and identifying pathogenic mutations, aiding in...
BLM Gene Bloom syndrome NGS Genetic Test
The purpose of the BLM Gene Bloom Syndrome NGS Genetic Test is to identify mutations in the BLM gene...
FANCC Gene Fanconi anemia type C NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FANCC gene to diagnose Fanconi A...
FANCI Gene Fanconi anemia type I NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Fanconi Anemia Type I by identifying mutations...
DPM3 Gene Glycosylation disorder type 1O NGS Genetic Test
The purpose of this test is to detect mutations in the DPM3 gene to diagnose Glycosylation Disorder...
BCKDHA Gene Maple syrup urine disease type 1a NGS Genetic Test
The purpose of this test is to diagnose Maple Syrup Urine Disease Type 1a by identifying mutations i...
TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test
To detect pathogenic mutations in the TPI1 gene for accurate diagnosis of triosephosphate isomerase...
PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test
To identify pathogenic mutations in the PTPN23 gene for diagnosis and management of ciliogenesis rel...
FLNA Gene Otopaladigital syndrome type 2 NGS Genetic Test
To diagnose Otopaladigital Syndrome Type 2 by identifying mutations in the FLNA gene using NGS techn...
GJB2 Gene Keratitis ichthyosis deafness syndrome autosomal dominant NGS Genetic Test
To identify mutations in the GJB2 gene for diagnosis of Keratitis Ichthyosis Deafness Syndrome (KID...
PIEZO2 Gene Arthrogryposis, distal, type 5 NGS Genetic Test
The purpose of this test is to identify mutations in the PIEZO2 gene to confirm a diagnosis of Arthr...
PIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic Test
The purpose of the PIEZO2 Gene NGS Genetic Test is to diagnose distal arthrogryposis type 3 by detec...
ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic Test
The purpose of the ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic Test is to identify pathog...
VPS33B Gene Arthrogryposis, renal dysfunction, and cholestasis type 1 NGS Genetic Test
The primary purpose of the VPS33B Gene NGS Genetic Test is to confirm a clinical diagnosis of ARC sy...
TGFBR2 Gene Loeys-Dietz syndrome type 2B NGS Genetic Test
The purpose of this test is to detect mutations in the TGFBR2 gene to confirm a diagnosis of Loeys-D...
SMAD3 Gene Loeys-Dietz syndrome type 1C NGS Genetic Test
The purpose of the SMAD3 Gene Loeys-Dietz Syndrome Type 1C NGS Genetic Test is to identify pathogeni...
ERCC4 Gene XFE progeroid syndrome NGS Genetic Test
The purpose of the ERCC4 Gene XFE Progeroid Syndrome NGS Genetic Test is to identify pathogenic muta...
MAP2K1 Gene Cardiofaciocutaneous syndrome type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the MAP2K1 gene to confirm a diagnosis of Cardiof...
ENPP1 Gene Arterial calcification type 1, generalized, infantile NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ENPP1 gene for the accurate diag...
CCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic Test
The purpose of the CCDC28B gene test is to identify genetic variations in the CCDC28B gene that modi...
BBS9 Gene Bardet-Biedl syndrome type 9 NGS Genetic Test
To detect mutations in the BBS9 gene for the diagnosis of Bardet-Biedl Syndrome Type 9, aiding in cl...
PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test
To diagnose Hypotonia-Cystinuria Syndrome by analyzing the PREPL gene for pathogenic mutations using...
UBR1 Gene Johanson Blizzard syndrome NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the UBR1 gene to confirm a diagnosis o...
SCNN1B Gene Liddle syndrome NGS Genetic Test
The purpose of the SCNN1B Gene Liddle Syndrome NGS Genetic Test is to identify pathogenic mutations...
OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic Test
To identify mutations in the OCRL gene for accurate diagnosis of Lowe oculocerebrorenal syndrome, ai...
CEP290 Gene Senior-Loken syndrome type 6 NGS Genetic Test
To identify mutations in the CEP290 gene for diagnosis of Senior-Loken syndrome type 6, guiding clin...
WAC Gene Desanto-Shinawi syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the WAC gene to confirm a diagnosis of Desanto-Sh...
KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the KIF1BP gene for the diagnosis of Goldberg-S...
BCS1L Gene GRACILE syndrome NGS Genetic Test
To detect mutations in the BCS1L gene for diagnosis of GRACILE syndrome, enabling early intervention...
FBN1 Gene Geleophysic dysplasia type 2 NGS Genetic Test
The purpose of this test is to diagnose Geleophysic dysplasia type 2 by detecting mutations in the F...
SATB2 Gene Glass syndrome NGS Genetic Test
To identify mutations in the SATB2 gene that cause Glass syndrome, enabling accurate diagnosis, gene...
GLI3 Gene Greig cephalopolysyndactyly syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the GLI3 gene to confirm a diagnosis of Greig cep...
PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic Test
To identify mutations in the PTDSS1 gene for diagnosis of Lenz-Majewski hyperostotic dwarfism, enabl...
BRAF Gene LEOPARD syndrome type 3 NGS Genetic Test
To diagnose LEOPARD syndrome type 3 by identifying mutations in the BRAF gene using Next-Generation...
GLE1 Gene Lethal congenital contracture syndrome type 1 NGS Genetic Test
To detect pathogenic mutations in the GLE1 gene for definitive diagnosis of Lethal Congenital Contra...
PEPD Gene Prolidase deficiency NGS Genetic Test
To diagnose prolidase deficiency by identifying mutations in the PEPD gene using advanced NGS techno...
CREBBP Gene Rubinstein-Taybi syndrome NGS Genetic Test
To identify mutations in the CREBBP gene that cause Rubinstein-Taybi Syndrome, aiding in accurate di...
EP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test
To diagnose Rubinstein-Taybi Syndrome by identifying pathogenic mutations in the EP300 gene using Ne...
NIN Gene Seckel syndrome type 7 NGS Genetic Test
The purpose of the NIN Gene Seckel Syndrome Type 7 NGS Genetic Test is to detect mutations in the NI...
IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic Test
To diagnose Short-rib thoracic dysplasia type 2 with or without polydactyly by detecting mutations i...
ERCC4 Gene XFE progeroid syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the ERCC4 gene that cause XFE progeroid syndrom...
AAAS Full Gene Sequence Analysis (Allogrove Syndrome)
To diagnose Allogrove Syndrome by detecting mutations in the AAAS gene through full gene sequence an...
Familial Mediterranean Fever: MEFV Full Gene Analysis
The purpose of the MEFV Full Gene Analysis is to confirm a diagnosis of Familial Mediterranean Fever...
TBX5 Full Length Gene Sequence Analysis (Holt-Oram Syndrome)
The purpose of TBX5 Full Length Gene Sequence Analysis is to confirm the diagnosis of Holt-Oram Synd...
TSC1 & TSC2 Gene Analysis
The purpose of the TSC1 & TSC2 Gene Analysis is to identify mutations in the TSC1 and TSC2 genes, wh...
WS1 Full Gene Sequence Analysis (Wolfram Syndrome, DIDMOAD)
The primary purpose of WS1 Full Gene Sequence Analysis is to confirm or rule out a clinical diagnosi...
AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Hermansky-Pudlak Syndrome Type 2 by detecting...
HPS1 Gene Hermansky-Pudlak Syndrome Type 1 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the HPS1 gene. It helps confirm...
TTR Gene Amyloidosis NGS Genetic Test
The primary purpose of the TTR Gene Amyloidosis NGS Genetic Test is to identify disease-causing muta...
PEX3 Gene Peroxisome biogenesis disorder type 10A NGS Genetic Test
The primary purpose of this NGS genetic test is to detect mutations in the PEX3 gene that lead to Pe...
EDNRB Gene Waardenburg syndrome/Hirschsprung disease NGS Genetic Test
The purpose of this test is to diagnose Waardenburg syndrome and Hirschsprung disease by identifying...
ALPL Gene Hypophosphatasia, childhood NGS Genetic Test
To diagnose hypophosphatasia by detecting mutations in the ALPL gene using next-generation sequencin...
GNPTAB Gene Mucolipidosis type 2 alpha/beta NGS Genetic Test
To detect pathogenic mutations in the GNPTAB gene for the diagnosis of Mucolipidosis Type 2 Alpha/Be...
DNAAF1 Gene Primary ciliary dyskinesia type 13 NGS Genetic Test
To identify mutations in the DNAAF1 gene associated with primary ciliary dyskinesia type 13, aiding...
CCDC39 Gene Primary ciliary dyskinesia type 14 NGS Genetic Test
To identify pathogenic mutations in the CCDC39 gene for the diagnosis of Primary Ciliary Dyskinesia...
CCDC114 Gene Primary ciliary dyskinesia type 20 NGS Genetic Test
To detect mutations in the CCDC114 gene for the diagnosis of primary ciliary dyskinesia type 20, ena...
RSPH1 Gene Primary ciliary dyskinesia type 24 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the RSPH1 gene to diagnose Primary C...
DYX1C1 Gene Primary ciliary dyskinesia type 25 NGS Genetic Test
To diagnose PCD Type 25 by detecting mutations in the DYX1C1 gene using NGS technology.
CFAP298 Gene Primary ciliary dyskinesia type 26 NGS Genetic Test
To diagnose Primary Ciliary Dyskinesia Type 26 by identifying mutations in the CFAP298 gene through...
DNAH5 Gene Primary ciliary dyskinesia type 3 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the DNAH5 gene to confirm a diagnosi...
DNAH11 Gene Primary ciliary dyskinesia type 7 NGS Genetic Test
To diagnose primary ciliary dyskinesia type 7 caused by DNAH11 gene mutations, confirm clinical susp...
MITF Gene Tietz albinism-deafness syndrome NGS Genetic Test
To diagnose Tietz Albinism-Deafness Syndrome by detecting pathogenic mutations in the MITF gene usin...
WFS1 Gene Wolfram syndrome type 1 NGS Genetic Test
The purpose of the WFS1 Gene Wolfram Syndrome Type 1 NGS Genetic Test is to diagnose Wolfram Syndrom...
CISD2 Gene Wolfram syndrome type 2 NGS Genetic Test
The purpose of the CISD2 Gene Wolfram Syndrome Type 2 NGS Genetic Test is to diagnose Wolfram Syndro...
MASP1 Gene 3MC syndrome type 1 NGS Genetic Test
To detect mutations in the MASP1 gene for diagnosis of 3MC Syndrome Type 1.
RBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic Test
To diagnose Adams-Oliver Syndrome Type 3 by detecting mutations in the RBPJ gene using Next-Generati...
LEMD3 Gene Buschke-Ollendorff syndrome NGS Genetic Test
To identify mutations in the LEMD3 gene for diagnosis of Buschke-Ollendorff Syndrome.
NIPBL Gene Cornelia de Lange syndrome type 1 NGS Genetic Test
To confirm the diagnosis of Cornelia de Lange Syndrome Type 1 by detecting pathogenic mutations in t...
SMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic Test
To identify mutations in the SMC1A gene for the diagnosis of Cornelia de Lange Syndrome Type 2, aidi...
SMC3 Gene Cornelia de Lange syndrome type 3 NGS Genetic Test
To identify pathogenic mutations in the SMC3 gene for accurate diagnosis of Cornelia de Lange Syndro...
HDAC8 Gene Cornelia de Lange syndrome type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the HDAC8 gene for the diagnosis of Cornelia de L...
NHP2 Gene Dyskeratosis congenita, autosomal recessive type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the NHP2 gene to confirm a diagnosis...
ACD Gene Dyskeratosis congenita, autosomal recessive type 7 NGS Genetic Test
The purpose of this test is to diagnose autosomal recessive type 7 dyskeratosis congenita by identif...
MIR17HG Gene Feingold syndrome type 2 NGS Genetic Test
To detect mutations in the MIR17HG gene for the diagnosis of Feingold Syndrome Type 2, aiding in cli...
ACVR1 Gene Fibrodysplasia ossificans progressiva NGS Genetic Test
To diagnose Fibrodysplasia Ossificans Progressiva by detecting mutations in the ACVR1 gene using NGS...
COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test
The purpose of the COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test is to detect mutations i...
PEX1 Gene Heimler syndrome type 1 NGS Genetic Test
The purpose of the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test is to identify mutations in th...
MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the MBTPS2 gene to confirm a diagnos...
MMP2 Gene Multicentric osteolysis, nodulosis, and arthropathy NGS Genetic Test
To detect mutations in the MMP2 gene for diagnosis of multicentric osteolysis, nodulosis, and arthro...
INPPL1 Gene Opsismodysplasia NGS Genetic Test
The purpose of this test is to detect mutations in the INPPL1 gene to diagnose opsismodysplasia, a r...
TERT Gene Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 NGS Genetic Test
The purpose of this test is to diagnose telomere-related type 1 diseases by detecting mutations in t...
FGFRL1 Gene Radioulnar synostosis, FGFRL1 related NGS Genetic Test
To identify mutations in the FGFRL1 gene causing radioulnar synostosis for accurate diagnosis, manag...
ACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ACP5 gene to confirm the diagnos...
SKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic Test
To diagnose Trichohepatoenteric Syndrome Type 2 by detecting mutations in the SKIV2L gene using NGS...
TTC37 Gene Trichohepatoenteric syndrome type 1 NGS Genetic Test
To diagnose Trichohepatoenteric syndrome type 1 by identifying pathogenic mutations in the TTC37 gen...
TMEM173 Gene Vasculopathy, infantile-onset, TMEM173/STING related NGS Genetic Test
To detect pathogenic mutations in the TMEM173 gene for the diagnosis of STING-associated vasculopath...
EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test
To identify pathogenic mutations in the EIF2AK3 gene for the diagnosis of Wolcott-Rallison Syndrome,...
GLA Gene Fabry disease NGS Genetic Test
The purpose of this test is to identify mutations in the GLA gene to diagnose Fabry disease, confirm...
MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic Test
The purpose of this test is to detect mutations in the MTRR gene to confirm a diagnosis of homocysti...
LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test
The purpose of this test is to diagnose LPIN1 gene mutations causing acute recurrent myoglobinuria,...
KLHL3 Gene Pseudohypoaldosteronism type 2D NGS Genetic Test
To diagnose Pseudohypoaldosteronism type 2D by detecting mutations in the KLHL3 gene using NGS techn...
BBS1 Gene Bardet-Biedl syndrome type 1 NGS Genetic Test
To diagnose Bardet-Biedl Syndrome Type 1 by identifying mutations in the BBS1 gene using next-genera...
BBS10 Gene Bardet-Biedl syndrome type 10 NGS Genetic Test
To diagnose Bardet-Biedl Syndrome Type 10 by detecting pathogenic mutations in the BBS10 gene using...
VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic Test
The purpose of this test is to diagnose ARC2 by sequencing the VIPAS39 gene to identify pathogenic m...
BBS12 Gene Bardet-Biedl syndrome type 12 NGS Genetic Test
To detect mutations in the BBS12 gene for diagnosis of Bardet-Biedl Syndrome Type 12, enabling early...
TRIM32 Gene Bardet-Biedl syndrome type 11 NGS Genetic Test
To diagnose Bardet-Biedl Syndrome Type 11 by detecting mutations in the TRIM32 gene using Next-Gener...
CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Bardet-Biedl syndrome type 14 by identifying m...
WDPCP Gene Bardet-Biedl syndrome type 15 NGS Genetic Test
The purpose of the WDPCP Gene Bardet-Biedl Syndrome Type 15 NGS Genetic Test is to detect mutations...
BBS2 Gene Bardet-Biedl syndrome type 2 NGS Genetic Test
To identify mutations in the BBS2 gene for accurate diagnosis of Bardet-Biedl Syndrome Type 2, enabl...
BBS5 Gene Bardet-Biedl syndrome type 5 NGS Genetic Test
To identify mutations in the BBS5 gene for diagnosis of Bardet-Biedl Syndrome Type 5, confirm clinic...
MKS1 Gene Meckel syndrome type 1 NGS Genetic Test
To confirm diagnosis of Meckel Syndrome Type 1 by detecting pathogenic mutations in the MKS1 gene us...
MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test
The purpose of the MKKS Gene NGS Genetic Test is to diagnose McKusick-Kaufman Syndrome by detecting...
CEP290 Gene Meckel syndrome type 4 NGS Genetic Test
To diagnose Meckel Syndrome Type 4 by identifying pathogenic mutations in the CEP290 gene using NGS...
TCTN2 Gene Meckel syndrome type 8 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the TCTN2 gene to confirm a diagnosis o...
B9D1 Gene Meckel syndrome type 9 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the B9D1 gene for the diagnosis of Mec...
LAS1L Gene Wilson-Turner syndrome NGS Genetic Test
The purpose of the LAS1L Gene Wilson-Turner Syndrome NGS Genetic Test is to diagnose Wilson-Turner s...
EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test
The purpose of the EIF2AK3 Gene Wolcott-Rallison Syndrome NGS Genetic Test is to confirm a diagnosis...
HOXA13 Gene Guttmacher syndrome NGS Genetic Test
The purpose of the HOXA13 Gene Guttmacher Syndrome NGS Genetic Test is to accurately detect mutation...
GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NGS Genetic Test
To diagnose GGCX gene mutations associated with Pseudoxanthoma elasticum-like disorder and multiple...
SMARCAL1 Gene Schimke immunoosseous dysplasia NGS Genetic Test
This test is designed to diagnose Schimke immunoosseous dysplasia by identifying mutations in the SM...
Ciliopathies Panel NGS Genetic Test
The purpose of the Ciliopathies Panel NGS Genetic Test is to provide a definitive diagnosis for susp...
PRKAR1A Gene Acrodysostosis type 1, with or without hormone resistance NGS Genetic Test
The purpose of this test is to detect mutations in the PRKAR1A gene to confirm a diagnosis of acrody...
ZSWIM6 Gene Acromelic frontonasal dysostosis NGS Genetic Test
To confirm the diagnosis of Acromelic frontonasal dysostosis by identifying mutations in the ZSWIM6...
DLL4 Gene Adams-Oliver syndrome type 6 NGS Genetic Test
The purpose of this test is to diagnose Adams-Oliver Syndrome Type 6 by identifying pathogenic mutat...
TP63 Gene ADULT syndrome, split hand-foot malformation NGS Genetic Test
The purpose of this test is to diagnose ADULT syndrome by detecting mutations in the TP63 gene using...
FBN1 Gene Acromicric dysplasia NGS Genetic Test
To identify mutations in the FBN1 gene associated with acromicric dysplasia for accurate diagnosis,...
NOTCH2 Gene Alagille syndrome type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the NOTCH2 gene that cause Alagille Syndrome Ty...
JAG1 Gene Alagille syndrome type 1 NGS Genetic Test
To confirm the diagnosis of Alagille syndrome type 1 by detecting pathogenic mutations in the JAG1 g...
GNAI3 Gene Auriculocondylar syndrome type 1 NGS Genetic Test
The purpose of the GNAI3 Gene Auriculocondylar Syndrome Type 1 NGS Genetic Test is to confirm the di...
FREM1 Gene Bifid nose NGS Genetic Test
To detect mutations in the FREM1 gene that cause bifid nose, enabling accurate diagnosis, treatment...
NOD2 Gene Blau syndrome NGS Genetic Test
To confirm a diagnosis of Blau syndrome by detecting mutations in the NOD2 gene, aiding in clinical...
BMPR1B Gene Brachydactyly type A2 NGS Genetic Test
The purpose of this test is to detect mutations in the BMPR1B gene associated with Brachydactyly typ...
TFAP2A Gene Branchiooculofacial syndrome NGS Genetic Test
To detect mutations in the TFAP2A gene for accurate diagnosis of Branchiooculofacial Syndrome, enabl...
PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic Test
To identify mutations in the PRG4 gene for accurate diagnosis of Camptodactyly-arthropathy-coxa vara...
MEGF8 Gene Carpenter syndrome type 2 NGS Genetic Test
To identify mutations in the MEGF8 gene for diagnosis of Carpenter Syndrome Type 2, aiding in clinic...
ABCC9 Gene Cantu syndrome NGS Genetic Test
To identify mutations in the ABCC9 gene for the diagnosis of Cantu syndrome, aiding in clinical mana...
GFRA1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
To identify mutations in the GFRA1 gene that cause Central Hypoventilation Syndrome, aiding in diagn...
SNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the SNAP29 gene that cause CEDNIK syndrome, ena...
TFAP2B Gene Char syndrome NGS Genetic Test
To diagnose Char Syndrome by detecting mutations in the TFAP2B gene using NGS technology, aiding in...
IMPAD1 Gene Chondrodysplasia with joint dislocations, GPAPP type NGS Genetic Test
The purpose of this test is to diagnose Chondrodysplasia with joint dislocations, GPAPP type by iden...
ERCC6 Gene Cockayne syndrome type B NGS Genetic Test
The purpose of the ERCC6 Gene Cockayne Syndrome Type B NGS Genetic Test is to identify mutations in...
LONP1 Gene CODAS syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the LONP1 gene that cause CODAS syndrome, enabl...
CLCF1 Gene Cold-induced sweating syndrome type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the CLCF1 gene to confirm a diagnosis of Cold-ind...
SOST Gene Craniodiaphyseal dysplasia, autosomal dominant NGS Genetic Test
To identify pathogenic mutations in the SOST gene for confirming diagnosis of craniodiaphyseal dyspl...
IFT122 Gene Cranioectodermal dysplasia type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the IFT122 gene that cause Cranioectodermal dys...
WDR35 Gene Cranioectodermal dysplasia type 2 NGS Genetic Test
The purpose of the WDR35 Gene Cranioectodermal dysplasia type 2 NGS Genetic Test is to diagnose CED2...
FRAS1 Gene Fraser syndrome NGS Genetic Test
The purpose of the FRAS1 Gene Fraser Syndrome NGS Genetic Test is to diagnose Fraser syndrome by det...
GRIP1 Gene Fraser syndrome NGS Genetic Test
The purpose of this test is to diagnose Fraser syndrome by identifying pathogenic mutations in the G...
ADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic Test
The purpose of the ADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic Test is to detect pathogeni...
NODAL Gene Heterotaxy, visceral type 5 NGS Genetic Test
To diagnose NODAL gene heterotaxy, visceral type 5 by detecting mutations in the NODAL gene using Ne...
FAT4 Gene Hennekam lymphangiectasia-lymphedema syndrome type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the FAT4 gene to confirm a diagnosis of Hennekam...
ACVR2B Gene Heterotaxy, visceral type 4 NGS Genetic Test
To diagnose Heterotaxy, visceral type 4 by identifying pathogenic mutations in the ACVR2B gene using...
FGFR2 Gene Jackson-Weiss syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the FGFR2 gene that cause Jackson-Weiss syndrom...
KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the KDM6A gene that cause Kabuki synd...
COL2A1 Gene Kniest dysplasia NGS Genetic Test
The primary purpose of the COL2A1 Gene Kniest Dysplasia NGS Genetic Test is to detect mutations in t...
FOXC2 Gene Lymphedema-distichiasis syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the FOXC2 gene that caus...
LMNA Gene Mandibuloacral dysplasia NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Mandibuloacral Dysplasia by identi...
POLD1 Gene Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Mandibular hypoplasia, deafness, prog...
ORC4 Gene Meier-Gorlin syndrome type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Meier-Gorlin syndrome type 2 by ident...
SMAD4 Gene Myhre syndrome NGS Genetic Test
The primary purpose of this NGS genetic test is to detect pathogenic variants in the SMAD4 gene that...
NBN Gene Nijmegen breakage syndrome NGS Genetic Test
The primary purpose of this NGS genetic test is to identify pathogenic mutations in the NBN gene to...
GJA1 Gene Oculodentodigital dysplasia NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Oculodentodigital dysplasia by identi...
TRPV3 Gene Olmsted syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the TRPV3 gene that are associated wi...
DDX59 Gene Orofaciodigital syndrome type 5 NGS Genetic Test
The purpose of the DDX59 NGS genetic test is to identify pathogenic mutations in the DDX59 gene that...
C2CD3 Gene Orofaciodigital syndrome type 14 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Orofaciodigital syndrome type 14 by i...
TCTN3 Gene Orofaciodigital syndrome type 4 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Orofaciodigital Syndrome Type 4 by id...
FGFR1 Gene Osteoglophonic dysplasia NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Osteoglophonic Dysplasia by identifyi...
EYA1 Gene Otofaciocervical syndrome NGS Genetic Test
The purpose of the EYA1 Gene NGS Genetic Test is to detect mutations in the EYA1 gene that cause Oto...
COL11A2 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Otospondylomegaep...
CPLANE1 Gene Orofaciodigital syndrome type 6 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Orofaciodigital syndrome type 6 by id...
COL2A1 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic Test
The purpose of the COL2A1 gene NGS genetic test is to identify pathogenic mutations in the COL2A1 ge...
GLI3 Gene Pallister-Hall syndrome NGS Genetic Test
The purpose of the GLI3 Gene Pallister-Hall Syndrome NGS Genetic Test is to confirm or rule out a cl...
RIPK4 Gene Popliteal pterygium syndrome, lethal type NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Popliteal pterygium syndrome, lethal...
PIK3R1 Gene SHORT syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the PIK3R1 gene that cause SHORT syndrome. Gene...
DHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out Smith-Lemli-Opitz Syndrome by detecting mutations...
WNT10B Gene Split-hand/foot malformation type 6 NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of Split-hand/foot malformation...
WNT3 Gene Tetraamelia, autosomal recessive NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the WNT3 gene that cause...
CCDC8 Gene Three M syndrome type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the CCDC8 gene that are associated with Three M s...
SALL1 Gene Townes-Brocks syndrome NGS Genetic Test
The primary purpose of the SALL1 Gene NGS Genetic Test is to confirm a clinical diagnosis of Townes-...
TCOF1 Gene Treacher Collins syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Treacher Collins Syndrome Type 1 by i...
POLR1C Gene Treacher Collins syndrome type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the POLR1C gene that cause Treacher Collins Syndr...
TBX3 Gene Ulnar-Mammary syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Ulnar-Mammary Syndrome by identifying...
IRF6 Gene van der Woude syndrome type 1 NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of Van der Woude Syndrome Type 1...
SCARF2 Gene Van den Ende-Gupta syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the SCARF2 gene that are associated...
GRHL3 Gene van der Woude syndrome type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Van der Woude Syndrome Type 2 by iden...
FAT4 Gene Van Maldergem syndrome type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FAT4 gene that cause Van Malderg...
DDX11 Gene Warsaw breakage syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the DDX11 gene that cause Warsaw Bre...
EZH2 Gene Weaver syndrome NGS Genetic Test
The purpose of the EZH2 Gene Weaver Syndrome NGS Genetic Test is to confirm a clinical diagnosis of...
LTBP2 Gene Weill-Marchesani syndrome type 3 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Weill-Marchesani Syndrome Type 3 by i...
FBN1 Gene Weill-Marchesani syndrome, dominant type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Weill-Marchesani syndrome, dominant t...
WRN Gene Werner syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out Werner syndrome by identifying mutations in the W...
MSX1 Gene Witkop syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Witkop syndrome by detecting mutat...
LIPI Gene Hypertriglyceridemia, susceptibility to NGS Genetic Test
The purpose of this test is to identify genetic variants in the LIPI gene and related genes that inc...
ACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test
To identify pathogenic mutations in the ACAT1 gene that cause methylacetoacetic aciduria, enabling a...
PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test
The purpose of the PTF1A Gene NGS Genetic Test is to identify pathogenic mutations in the PTF1A gene...
SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic Test
To detect mutations in the SERHL2 gene for accurate diagnosis of SERHL2 Gene Serine Hydrolase Defici...
Comprehensive Ear Nose Throat Panel NGS Genetic Test
To identify genetic causes of ear, nose, and throat disorders for accurate diagnosis, personalized t...
IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
The purpose of the IARS2 Gene NGS Genetic Test is to accurately diagnose mutations in the IARS2 gene...
Clinical Exome Next Generation Sequencing Test
The purpose of the Clinical Exome NGS Test is to diagnose genetic disorders by identifying mutations...
ATAC Sequencing
To study chromatin accessibility and identify regulatory elements in the genome for understanding ge...
ddRAD Sequencing-96 Samples
ddRAD sequencing is used for high-throughput analysis of genetic variations, enabling applications i...
Hi-C Sequencing
The purpose of Hi-C sequencing is to map the three-dimensional structure of the genome, identify chr...
Eukaryotic Stranded mRNA Sequencing
The purpose of eukaryotic stranded mRNA sequencing is to analyze gene expression patterns, identify...
Eukaryotic mRNA Sequencing
To diagnose genetic disorders by analyzing gene expression and mutations through mRNA sequencing, en...
Eukaryotic Stranded Transcriptome Sequencing-Including lncRNA
The purpose of Eukaryotic Stranded Transcriptome Sequencing is to provide a comprehensive view of ge...
Eukaryotic mRNA Sequencing Library Preparation
The purpose of Eukaryotic mRNA Sequencing Library Preparation is to prepare high-quality sequencing...
Eukaryotic Transcriptome Sequencing-Including lncRNA
The purpose of Eukaryotic Transcriptome Sequencing including lncRNA is to analyze gene expression an...
Eukaryotic mRNA Sequencing Library Preparation-Ultra Low Input
The purpose of eukaryotic mRNA sequencing library preparation is to enable comprehensive sequencing...
Eukaryotic mRNA Sequencing-Low Input
To analyze gene expression patterns, identify differentially expressed genes, and discover novel tra...
Bacterial Stranded Transcriptome Library Preparation
The purpose of Bacterial Stranded Transcriptome Library Preparation is to analyze the gene expressio...
Eukaryotic Transcriptome Library Preparation- Including lncRNA
The purpose of eukaryotic transcriptome library preparation is to enable comprehensive gene expressi...
Eukaryotic Stranded Transcriptome Library Preparation- Including lncRNA
To prepare a strand-specific cDNA library from eukaryotic RNA for sequencing, enabling detailed anal...
Exome Max Test
The purpose of the Exome Max Test is to diagnose genetic disorders by analyzing all coding DNA regio...
SIX5 Gene Branchiootorenal Syndrome Type 2 NGS Genetic Test
The purpose of this NGS genetic test is to accurately detect pathogenic variants in the SIX5 gene th...
UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome NGS Genetic Test
The primary purpose is to identify pathogenic variants in the UBE3B gene to confirm or exclude Bleph...
IARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the IARS2 gene that may explain the p...
HPS4 Gene Hermansky Pudlak Syndrome Type 4 NGS Genetic Test
To confirm a clinical diagnosis of Hermansky-Pudlak Syndrome Type 4 by identifying pathogenic varian...
HPS3 Gene Hermansky-Pudlak Syndrome Type 3 NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the HPS3 gene to establish a mo...
CR1 Gene CR1 deficiency NGS Genetic Test
To detect pathogenic mutations in the CR1 gene for the genetic confirmation of CR1 deficiency, suppo...
COG7 Gene Glycosylation disorder type 2E NGS Genetic Test
The purpose of this NGS genetic test is to identify a disease-causing variant in the COG7 gene in in...
ACAD9 Gene Leigh syndrome and mitochondrial encephalopathy NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the ACAD9 gene associate...
PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic Test
The purpose of this test is to confirm or rule out saposin B deficiency as the cause of metachromati...
AKAP1 Gene Mitochondrial Disorders, AKAP1 related NGS Genetic Test
To detect pathogenic variants in the AKAP1 gene associated with mitochondrial disorders, enabling ac...
ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic Test
The purpose of this test is to identify sequence variants in the ACTA2 gene using next-generation se...
POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the POMT2 gene that cause muscular dy...
DNMT1 Gene Neuropathy sensor type 1E NGS Genetic Test
To detect disease-causing variants in the DNMT1 gene in a person with suspected hereditary sensory n...
OFD1 Gene Oral-facial-digital syndrome type 1 NGS Genetic Test
The OFD1 Gene NGS Genetic Test is performed to confirm a clinical diagnosis of Oral-Facial-Digital S...
PEX11B Gene Peroxisome biogenesis disorder 14B NGS Genetic Test
To identify disease-relevant variants in the PEX11B gene by NGS. This supports confirmation of a cli...
HSD17B4 Gene Perrault syndrome NGS Genetic Test
The purpose of this test is to identify disease-causing pathogenic variants in the HSD17B4 gene, con...
TWNK Gene Perrault syndrome type 5 NGS Genetic Test
The purpose of this test is to detect germline variants in the TWNK gene that are associated with Pe...
HARS2 Gene Perrault syndrome type 2 NGS Genetic Test
To detect pathogenic variants in the HARS2 gene using Next Generation Sequencing technology for the...
IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
To diagnose mutations in the IARS2 gene associated with cataracts, growth hormone deficiency, sensor...
JAG2 Gene Craniofacial and neuro-developmental abnormalities, JAG2 related NGS Genetic Test
The purpose of the JAG2 Gene NGS Genetic Test is to detect pathogenic or likely pathogenic mutations...
CHD7 Gene Kallmann syndrome type 5 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Kallmann Syndrome Type 5 by detecting...
GDF6 Gene Klippel-Feil syndrome type 1, autosomal dominant NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the GDF6 gene that cause Klippel-Fe...
MEOX1 Gene Klippel-Feil syndrome type 2, autosomal dominant NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the MEOX1 gene that cause Klippel-Fe...
GDF3 Gene Klippel-Feil syndrome type 3, autosomal dominant NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the GDF3 gene associated with Klippel...
MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the MYO18B gene that caus...
EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the EFTUD2 gene that cause mandibulo...
B3GAT3 Gene Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of B3GAT3-related disorder, identify the...
BRAF Gene Noonan syndrome type 7 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the BRAF gene that cause Noonan synd...
PAX2 Gene Papillorenal syndrome NGS Genetic Test
The purpose of the PAX2 Gene NGS Genetic Test is to identify pathogenic mutations in the PAX2 gene t...
IRF6 Gene Popliteal pterygium syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Popliteal Pterygium Syndrome Type 1 b...
CEP152 Gene Seckel syndrome type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the CEP152 gene that cause Seckel Syndrome Type 5...
XRCC4 Gene Short stature, microcephaly, and endocrine dysfunction NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the XRCC4 gene that may be responsibl...
NBAS Gene Short stature, optic nerve atrophy, and Pelger-Huet anomaly NGS Genetic Test
The primary purpose of this test is to confirm or rule out a genetic cause for clinical features suc...
DLX5 Gene Split-hand/foot malformation type 1 with sensorineural hearing loss NGS Genetic Test
The purpose of this test is to identify mutations in the DLX5 gene that cause SHFM1 with sensorineur...
B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of SEMDJL1 by identi...
HPSE2 Gene Urofacial syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Urofacial syndrome type 1 by detectin...
LRIG2 Gene Urofacial syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical suspicion of Urofacial syndrome by identifying pat...
ACTG2 Gene Visceral myopathy NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of visceral myopathy by identifying path...
Whole Exome Sequencing + RAW DATA WES Test
The primary purpose of Whole Exome Sequencing is to identify the genetic cause of a suspected inheri...
Whole Exome+ Mitochondrial Genome Sequencing
The purpose of Whole Exome + Mitochondrial Genome Sequencing is to identify genetic variants that ma...
Human Exome Sequencing and Analysis- Twist Human Core Exome
The primary purpose of human exome sequencing is to identify the genetic cause of a suspected inheri...
Genotyping by Sequencing and Primary Analysis-96 Samples
The purpose of Genotyping by Sequencing is to identify genetic variations (SNPs, indels) across the...
Human Exome Sequencing- SureSelect V6
The primary purpose of Human Exome Sequencing is to identify the underlying genetic cause of a patie...
Human Exome Sequencing- Twist Human Core Exome
The primary purpose of human exome sequencing is to identify genetic variants that cause or contribu...
DNA Library Preparation-ONT
The purpose of DNA library preparation-ONT is to prepare a DNA sample for sequencing using Oxford Na...
PacBio Sequel II Library Preparation
The purpose of PacBio Sequel II library preparation is to convert high-molecular-weight DNA into a s...
Human Exome Data Analysis-Variant Calling and Annotation
The primary purpose of this test is to analyze exome sequencing data to identify clinically relevant...
Human Genome Reference Based Data Analysis-Illumina
The purpose of Human Genome Reference Based Data Analysis is to identify genetic variations that may...
ddRAD Sequencing Primary Data Analysis-96 Samples
The purpose of ddRAD sequencing primary data analysis is to process raw sequencing data from 96 samp...
Eukaryotic Transcriptome Sequencing and Reference Based Analysis-Including lncRNA
The purpose of eukaryotic transcriptome sequencing with reference-based analysis is to comprehensive...
Eukaryotic Stranded Transcriptome Sequencing and Reference Based Analysis-Including lncRNA
The primary purpose of this test is to provide a comprehensive and quantitative profile of the trans...
Eukaryotic Transcriptome Sequencing Reference Based Data Analysis- Including lncRNA
The purpose of this test is to analyze the transcriptome of eukaryotic cells to identify gene expres...
Sequencing Library QC-TapeStation
The purpose of the Sequencing Library QC-TapeStation test is to verify the quality and quantity of a...
2x150 Miseq Sequencing-Flow Cell
The primary purpose of the 2x150 Miseq Sequencing Flow Cell is to perform high-resolution DNA sequen...
Sequencing Library QC-qPCR
The primary purpose of Sequencing Library QC-qPCR is to determine the concentration of the DNA libra...
2x300 Miseq Sequencing-Flow Cell
The purpose of the 2x300 Miseq Sequencing Flow Cell is to provide high-resolution sequencing data fo...
2x150 Hiseq Sequencing-One Lane
The purpose of 2x150 HiSeq Sequencing is to provide high-resolution genomic data for research and cl...
2x150 Hiseq Sequencing- 3 GB
The purpose of the 2x150 Hiseq Sequencing test is to detect genetic variations that may be responsib...
2x150 Hiseq Sequencing- 1 GB
The purpose of the 2x150 HiSeq Sequencing (1GB) test is to provide high-resolution genetic data for...
2x150 Hiseq Sequencing- 10 GB
The purpose of 2x150 Hiseq Sequencing is to provide comprehensive genetic data for the diagnosis of...
2x150 Hiseq Sequencing- 5 GB
The purpose of 2x150 Hiseq Sequencing is to provide high-resolution genetic data for accurate diagno...
2x150 Hiseq Sequencing- 20 GB
The primary purpose of the 2x150 HiSeq Sequencing (20GB) is to identify genetic mutations that may b...
Oxford Nanopore-Flow Cell
The purpose of the Oxford Nanopore Flow Cell test is to sequence DNA with high accuracy and speed to...
PacBio Sequel- 30 GB
The purpose of the PacBio Sequel 30GB test is to provide a complete and accurate picture of an indiv...
PacBio Sequel- 1GB
The purpose of PacBio Sequel 1GB is to provide a comprehensive and accurate genetic diagnosis by seq...
Oxford Nanopore- 1GB
The purpose of Oxford Nanopore 1GB sequencing is to provide high-quality long-read DNA sequence data...
IL12RB2 Gene Atypical Mycobacterial infection, IL12RB2 related NGS Genetic Test
To identify mutations in the IL12RB2 gene that may increase susceptibility to atypical mycobacterial...
FCGR2B Gene Malaria, resistance to NGS Genetic Test
To identify genetic variations in the FCGR2B gene associated with malaria resistance, helping to ass...
ICAM1 Gene Malaria, cerebral, susceptibility to NGS Genetic Test
To assess genetic susceptibility to cerebral malaria by analyzing variants in the ICAM1 gene using n...
ITS Sequencing
The purpose of ITS sequencing is to accurately identify fungal and bacterial organisms causing infec...
Parvovirus B19 Qualitative PCR Test
The purpose of this qualitative PCR test is to confirm the presence or absence of Parvovirus B19 DNA...
Respiratory Panel 5 Test
The purpose of the Respiratory Panel 6 Test is to identify the presence of common viral and bacteria...
SARS-CoV-2 (COVID-19) Qualitative Real Time RT PCR Test
The purpose of this qualitative test is to determine whether SARS-CoV-2 RNA is present in the respir...
Torch DNA Detection Test
The purpose of the TORCH DNA Detection Test is to directly detect the presence of DNA from Toxoplasm...
Toxoplasma DNA Detection Test
To diagnose active toxoplasmosis, assess congenital transmission, and monitor response to treatment...
TLR5 Gene Legionnaire disease, susceptibility to NGS Genetic Test
To identify genetic variations in the TLR5 gene that may increase susceptibility to Legionnaire dise...
Hantavirus Viral Load Quantitative Test
The purpose of this test is to detect and measure the amount of Hantavirus RNA in a patient's sample...
H7N7 & Influenza A (RNA Detection) Qualitative Test
The purpose of the H7N7 & Influenza A (RNA Detection) Qualitative Test is to detect the presence of...
H7N9 & Influenza A (RNA Detection) Qualitative Test
The purpose of this test is to qualitatively detect the RNA of H7N9 and Influenza A viruses in respi...
H7N9 & Influenza A Viral Load Quantitative Test
The primary purpose of the H7N9 & Influenza A Viral Load Quantitative Test is to detect the presence...
H9N2 & Influenza A (RNA Detection) Qualitative Test
The purpose of this qualitative test is to detect the presence of RNA from Influenza A virus, includ...
H9N2 & Influenza A Viral Load Quantitative Test
The purpose of this test is to detect and quantify the presence of Influenza A virus, specifically i...
H9N7 & Influenza A (RNA Detection) Qualitative Test
The purpose of this test is to qualitatively detect the presence of H9N7 and Influenza A viral RNA i...
H9N7 & Influenza A Viral Load Quantitative Test
The primary purpose of this test is to confirm the presence of Influenza A virus, specifically the H...
H. Influenza (RNA Detection) Qualitative Test
The purpose of this test is to detect the presence of Haemophilus influenzae RNA in a patient sample...
Histoplasma (RNA Detection) Qualitative Test
The purpose of this test is to qualitatively detect the presence of Histoplasma capsulatum RNA in cl...
Influenza B (RNA Detection) Qualitative Test
The purpose of the Influenza B RNA Detection Qualitative Test is to confirm or rule out an active in...
Influenza Group A & B Viral Load Quantitative Test
The purpose of this test is to detect and quantify the presence of Influenza A and B viruses in resp...
Influenza Group A & B (RNA Detection) Qualitative Test
The purpose of this test is to qualitatively detect the presence of influenza A and B viral RNA in r...
JEV (RNA Detection) Qualitative Test
The primary purpose of the JEV (RNA Detection) Qualitative Test is to confirm or rule out the presen...
JC/BK (DNA Detection) (RNA Detection) Qualitative Test
The primary purpose of the JC/BK (DNA Detection) (RNA Detection) Qualitative Test is to detect the p...
Leptospira (Pathogenic) (RNA Detection) Qualitative Test
The purpose of this test is to detect the presence of pathogenic Leptospira RNA in a patient's blood...
Marburg, Lassa & Ebola Multiplex Detection and Differentiation (RNA Detection) Qualitative Test
The purpose of this test is to detect and differentiate between Marburg, Lassa, and Ebola virus infe...
Measles Virus (RNA Detection) Qualitative Test
The primary purpose of the Measles Virus RNA Detection Qualitative Test is to confirm the diagnosis...
MERS (Middle East Respiratory Syndrome) (UpE, ORF1a & ORF1b) Multiplex Detection and Differentiation (RNA Detection) Qualitative Test
The purpose of this test is to detect the presence of MERS-CoV RNA in clinical specimens, confirming...
MRSA (Methicillin-resistant Staphylococcus aureus) Multiplex Detection & Differentiation (DNA Detection) Qualitative Test
The primary purpose of the MRSA Multiplex Detection & Differentiation Qualitative Test is to detect...
Metapneumonia Virus A, B Detection and Differentiation (RNA Detection) Qualitative Test
The primary purpose of this test is to detect the presence of human metapneumovirus (hMPV) RNA in re...
Metapneumonia Virus A (RNA Detection) Qualitative Test
The purpose of this test is to detect the presence of Metapneumonia Virus A RNA in respiratory sampl...
Metapneumonia Virus B (RNA Detection) Qualitative Test
The purpose of the Metapneumonia Virus B (RNA Detection) Qualitative Test is to confirm or rule out...
Mycoplasma Species Bacterial Load Test
The purpose of this test is to detect the presence of Mycoplasma species and quantify the bacterial...
Mycoplasma Species (RNA Detection) Qualitative Test
The purpose of the Mycoplasma Species (RNA Detection) Qualitative Test is to detect the presence of...
Mycoplasma Pneumonia (RNA Detection) Qualitative Test
The purpose of the Mycoplasma Pneumonia (RNA Detection) Qualitative Test is to confirm or rule out a...
Nipah Virus (RNA Detection) Qualitative Test
The purpose of this test is to detect the presence of Nipah virus RNA in a patient sample, confirmin...
Nipah Virus Viral Load Quantitative Test
The primary purpose of the Nipah Virus Viral Load Quantitative Test is to detect the presence of Nip...
Parvo Virus B19 (RNA Detection) Qualitative Test
The purpose of this test is to qualitatively detect the presence of Parvovirus B19 RNA in the blood...
Parvo Virus B19 Viral Load Quantitative Test
The primary purpose of the Parvo Virus B19 Viral Load Quantitative Test is to confirm the presence o...
Plasmodium Species (RNA Detection) Qualitative Test
The purpose of the Plasmodium Species (RNA Detection) Qualitative Test is to confirm the presence of...
Pneumosystis Carinii (RNA Detection) Qualitative Test
The primary purpose of the Pneumocystis Carinii (RNA Detection) Qualitative Test is to diagnose Pneu...
Rubella Virus (RNA Detection) Qualitative Test
The primary purpose of the Rubella RNA Detection Qualitative Test is to confirm the presence of rube...
Rabies Detection RNA Qualitative PCR Test Humans
The purpose of this test is to qualitatively detect the presence of rabies virus RNA in clinical spe...
RSV A, RSV B Viral Load Quantitative Test
The primary purpose of this test is to detect and quantify RSV A and RSV B viral RNA in respiratory...
RSV A, RSV B (RNA Detection) Qualitative Test
The purpose of the RSV A, RSV B (RNA Detection) Qualitative Test is to confirm the presence of Respi...
Toxoplasma Gondii (RNA Detection) Qualitative Test
The primary purpose of the Toxoplasma Gondii (RNA Detection) Qualitative Test is to detect the prese...
VZV (Varicella Zoster Virus) Viral Load Quantitative Test
The primary purpose of the VZV viral load quantitative test is to confirm active VZV infection, diff...
VZV (Varicella Zoster Virus) (RNA Detection) Qualitative Test
The purpose of the VZV RNA Qualitative Test is to confirm active VZV infection by detecting viral RN...
West Nile Virus (RNA Detection) Qualitative Test
The purpose of the West Nile Virus (RNA Detection) Qualitative Test is to detect the presence of Wes...
Zika Virus Viral Load Quantitative Test
The primary purpose of the Zika Virus Viral Load Quantitative Test is to detect the presence of Zika...
Zika Virus (RNA Detection) Qualitative Test
The purpose of this test is to confirm or rule out active Zika virus infection by detecting viral RN...
DNA Extraction from Bacteria
The primary purpose of DNA extraction from bacteria is to obtain pure DNA for molecular analysis. Th...
DNA Extraction from Fungus
The purpose of DNA extraction from fungus is to isolate and purify fungal DNA from clinical samples....
Shotgun Metagenome Sequencing and Analysis
The purpose of shotgun metagenome sequencing and analysis is to provide an unbiased, comprehensive a...
Fungal ITS2 Amplicon Sequencing and Analysis
The purpose of Fungal ITS2 Amplicon Sequencing is to identify the exact fungal species present in a...
Bacterial 16S rRNA V3- V4 Amplicon Sequencing and Analysis
The primary purpose of this test is to identify bacterial species present in a clinical sample by an...
Bacterial Genome Sequencing, De Novo Assembly and Annotation - Illumina
The purpose of bacterial genome sequencing, de novo assembly, and annotation is to provide a compreh...
DNA Viral Metagenome Sequencing and Analysis
The primary purpose of DNA viral metagenome sequencing is to identify the causative viral agent in p...
Bacterial Genome Sequencing and Reference Based Analysis
The purpose of bacterial genome sequencing and reference-based analysis is to provide a comprehensiv...
Bacterial Genome Sequencing, De Novo Assembly and Annotation - Illumina and ONT Hybrid
The purpose of this test is to obtain a complete and accurate bacterial genome sequence for detailed...
Fungal Genome Sequencing, De Novo Assembly and Annotation - Illumina
The purpose of fungal genome sequencing is to obtain a complete and accurate genetic blueprint of a...
Fungal Genome Sequencing and Reference Based Analysis
The purpose of fungal genome sequencing and reference-based analysis is to provide a definitive mole...
DNA Viral Genome Sequencing and Analysis
The primary purpose of DNA viral genome sequencing and analysis is to identify and characterize the...
Bacterial V3-V4 16S rRNA Amplicon Sequencing
The primary purpose of Bacterial V3-V4 16S rRNA amplicon sequencing is to identify the causative bac...
Shotgun Metagenome Sequencing Data Analysis
The purpose of shotgun metagenome sequencing data analysis is to identify and characterize all micro...
Fungal ITS2 Amplicon Sequencing Data Analysis
The purpose of Fungal ITS2 Amplicon Sequencing Data Analysis is to accurately identify fungal specie...
Bacterial V3-V4 16S rRNA Amplicon Sequencing Data Analysis
The primary purpose of this test is to identify and classify bacterial strains present in a clinical...
DNA Viral Metagenome Sequencing Data Analysis
The purpose of DNA viral metagenome sequencing data analysis is to identify the specific virus or vi...
Bacterial Genome Reference Based Data Analysis-Illumina
The purpose of bacterial genome reference based data analysis is to provide comprehensive genetic in...
Bacterial Genome De Novo Assembly and Annotation-Illumina
The primary purpose of bacterial genome de novo assembly and annotation is to obtain a complete and...
Fungal Genome Reference Based Data Analysis-Illumina
The primary purpose of this test is to accurately identify the fungal species causing an infection a...
Bacterial Genome De Novo Assembly and Annotation-Illumina and ONT Hybrid
The purpose of this test is to provide a complete and accurate genomic characterization of a bacteri...
Fungal Genome De Novo Assembly and Annotation-Illumina
The primary purpose of Fungal Genome De Novo Assembly and Annotation is to determine the complete ge...
DNA Viral Genome Sequencing Data Analysis
The primary purpose of DNA viral genome sequencing data analysis is to identify the exact genetic se...
RNA Viral Metagenome Sequencing and Analysis
The purpose of RNA viral metagenome sequencing is to detect and identify all RNA viruses present in...
Metatranscriptome Sequencing Data Analysis
The purpose of metatranscriptome sequencing data analysis is to profile the gene expression of micro...
RNA Viral Metagenome Sequencing Data Analysis
The purpose of RNA viral metagenome sequencing data analysis is to detect and characterize viral RNA...
IYD Gene Thyroid dyshormonogenesis type 4 NGS Genetic Test
To identify mutations in the IYD gene for diagnosis of thyroid dyshormonogenesis type 4.
TG Gene Thyroid dyshormonogenesis type 3 NGS Genetic Test
To identify mutations in the TG gene associated with thyroid dyshormonogenesis type 3, aiding in dia...
DUOX1 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test
To identify pathogenic mutations in the DUOX1 gene for diagnosing thyroid dyshormonogenesis type 6,...
TPO Gene Thyroid dyshormonogenesis type 2A NGS Genetic Test
To identify mutations in the TPO gene associated with thyroid dyshormonogenesis type 2A, aiding in d...
MSX2 Gene Craniosynostosis type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the MSX2 gene to confirm a diagnosis of craniosyn...
EVC2 Gene Ellis-van Creveld syndrome NGS Genetic Test
To identify mutations in the EVC2 gene for the diagnosis of Ellis-van Creveld Syndrome, aiding in cl...
FGFR2 Gene Saethre-Chotzen syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the FGFR2 gene to diagnose Saethre-Chotzen syndro...
Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test
To detect abnormal methylation in the chromosome 15q11-q13 region and support the diagnosis of Prade...
TSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the TSPYL1 gene that cause Sudden Infant Death...
ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test
To detect pathogenic mutations in the ATRX gene for definitive diagnosis of Alpha-thalassemia/mental...
PTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic Test
The purpose of this test is to confirm the diagnosis of Blomstrand type chondrodysplasia by detectin...
IGF1 Gene Growth retardation with deafness and mental retardation due to IGF1 deficiency NGS Genetic Test
The purpose of this test is to diagnose IGF1 deficiency by detecting pathogenic variants in the IGF1...
CFC1 Gene Heterotaxy, visceral type 2 NGS Genetic Test
To identify pathogenic mutations in the CFC1 gene associated with Heterotaxy, Visceral Type 2, aidin...
CFAP53 Gene Heterotaxy, visceral type 6 NGS Genetic Test
To identify mutations in the CFAP53 gene that cause Heterotaxy Syndrome, Visceral Type 6, aiding in...
SHH Gene Holoprosencephaly type 3 NGS Genetic Test
The purpose of the SHH Gene Holoprosencephaly Type 3 NGS Genetic Test is to detect mutations in the...
PGAP2 Gene Hyperphosphatasia with mental retardation syndrome type 3 NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the PGAP2 gene that cause Hyperphos...
CDKN1C Gene IMAGE syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the CDKN1C gene that cause IMAGE syndrome. It is...
SALL4 Gene IVIC syndrome NGS Genetic Test
The primary purpose of the SALL4 Gene IVIC syndrome NGS genetic test is to confirm a clinical diagno...
TTC7A Gene Intestinal atresia, multiple NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the TTC7A gene that are associated with...
PROK2 Gene Kallmann syndrome type 4 NGS Genetic Test
The purpose of the PROK2 Gene NGS Genetic Test is to detect mutations in the PROK2 gene that cause K...
KMT2D Gene Kabuki syndrome type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the KMT2D gene that cause Kabuki syn...
FGFR1 Gene Kallmann syndrome type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the FGFR1 gene that are associated wi...
paternal UPD chr. 14 Gene Kagami-Ogata syndrome NGS Genetic Test
The purpose of this NGS genetic test is to confirm the diagnosis of Kagami-Ogata syndrome by detecti...
MGP Gene Keutel syndrome NGS Genetic Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of Keutel syndrome by identi...
KANSL1 Gene Koolen syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out a clinical diagnosis of Koolen Syndrome by identi...
EXT1 Gene Langer-Giedion syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants or deletions in the EXT1 gene...
TRPS1 Gene Langer-Giedion syndrome NGS Genetic Test
The purpose of this NGS genetic test is to confirm or rule out a clinical diagnosis of Langer-Giedio...
RIN2 Gene Macrocephaly, alopecia, cutis laxa, and scoliosis NGS Genetic Test
The purpose of the RIN2 Gene NGS Genetic Test is to confirm or rule out mutations in the RIN2 gene i...
ORC1 Gene Meier-Gorlin syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Meier-Gorlin syndrome type 1 by ident...
INPP5E Gene Mental retardation, truncal obesity, retinal dystrophy, and micropenis NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the INPP5E gene that may be responsi...
MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the MMP13 gene that cause Metaphyseal Anadyspla...
PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of Microcephalic osteodyspla...
TRIM37 Gene Mulibrey nanism NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the TRIM37 gene to confirm a di...
CEP57 Gene Mosaic variegated aneuploidy syndrome type 2 NGS Genetic Test
The primary purpose of this test is to confirm a clinical suspicion of Mosaic Variegated Aneuploidy...
PIGN Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Multiple Congenital Anomalies-Hypoton...
PTPN11 Gene Noonan syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Noonan Syndrome Type 1 by detecting p...
SHOC2 Gene Noonan syndrom like NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Noonan syndrome-like disorder caus...
LZTR1 Gene Noonan syndrome type 10 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the LZTR1 gene that are associated w...
KRAS Gene Noonan syndrome type 3 NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Noonan syndrome type 3 by identify...
RAF1 Gene Noonan syndrome type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the RAF1 gene that are associated with Noonan syn...
NRAS Gene Noonan syndrome type 6 NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Noonan syndrome type 6 in individu...
RIT1 Gene Noonan syndrome type 8 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the RIT1 gene that are associated with...
NAA10 Gene Ogden syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out Ogden syndrome in individuals presenting with cha...
CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the CBL gene that cause Noonan synd...
MED12 Gene Opitz-Kaveggia syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Opitz-Kaveggia syndrome by identifyin...
SUMO1 Gene Orofacial cleft type 10 NGS Genetic Test
The primary purpose of this test is to identify mutations in the SUMO1 gene that cause orofacial cle...
MSX1 Gene Orofacial cleft type 5 NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the MSX1 gene that cause Orofacial...
BMP4 Gene Orofacial cleft type 11 NGS Genetic Test
The primary purpose of the BMP4 gene orofacial cleft type 11 NGS genetic test is to confirm a diagno...
NECTIN1 Gene Orofacial cleft type 7 NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of orofacial cleft type 7 by ide...
IRF6 Gene Orofacial cleft type 6 NGS Genetic Test
The purpose of the IRF6 gene NGS genetic test is to identify pathogenic mutations in the IRF6 gene t...
DIS3L2 Gene Perlman Syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Perlman syndrome by identifying patho...
chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect deletions or mutations in the SHANK3 gene on chrom...
FGFR2 Gene Pfeiffer syndrome NGS Genetic Test
The primary purpose of this test is to identify disease-causing mutations in the FGFR2 gene that are...
COL2A1 Gene Platyspondylic skeletal dysplasia, Torrance type NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the COL2A1 gene that caus...
RBBP8 Gene Seckel syndrome type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the RBBP8 gene that cause Seckel synd...
ATR Gene Seckel syndrome type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ATR gene that cause Seckel syndr...
CENPJ Gene Seckel syndrome type 4 NGS Genetic Test
The purpose of the CENPJ Gene Seckel Syndrome Type 4 NGS Genetic Test is to confirm or rule out a di...
CEP63 Gene Seckel syndrome type 6 NGS Genetic Test
The purpose of this test is to confirm or rule out a clinical diagnosis of Seckel Syndrome Type 6 by...
COL2A1 Gene SED congenita NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the COL2A1 gene in individuals...
ZBTB16 Gene Skeletal defects, genital hypoplasia, and mental retardation NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ZBTB16 gene that may be responsib...
NSD1 Gene Sotos syndrome type 1 NGS Genetic Test
The primary purpose of the NSD1 Gene Sotos Syndrome Type 1 NGS Genetic Test is to identify mutations...
NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Spondylo-megaepiphyseal-metaphyseal d...
TBX6 Gene Spondylocostal dysostosis type 5 NGS Genetic Test
The purpose of this test is to identify mutations in the TBX6 gene that cause Spondylocostal Dysosto...
LIFR Gene Stuve-Wiedemann syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the LIFR gene that cause Stuve-Wiede...
HOXD13 Gene Syndactyly type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Syndactyly type 1 by detecting mutati...
HOXD13 Gene Syndactyly type 5 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of syndactyly type 5 by identifying path...
BHLHA9 Gene Syndactyly, mesoaxial synostotic, with phalangeal reduction NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the BHLHA9 gene that cause syndactyly...
RBM10 Gene Tarp syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the RBM10 gene that cause TARP syndrome. Early di...
CHSY1 Gene Temtamy preaxial brachydactyly syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the CHSY1 gene that are associated with Temtamy p...
maternal UPD chr. 14 Gene Temple syndrome NGS Genetic Test
The purpose of this test is to confirm the diagnosis of Maternal UPD chr. 14 Gene Temple Syndrome in...
CUL7 Gene Three M syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Three M Syndrome type 1 by identifyin...
FAM58A Gene Toe syndactyly, telecanthus, and anogenital and renal malformations NGS Genetic Test
The purpose of this test is to confirm or rule out a genetic cause for symptoms such as toe syndacty...
OBSL1 Gene Three M syndrome type 2 NGS Genetic Test
The primary purpose of the OBSL1 Gene Three M Syndrome Type 2 NGS Genetic Test is to confirm or rule...
FGFR1 Gene Trigonocephaly type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FGFR1 gene that cause trigonocep...
WNT7A Gene Ulna and fibula, absence of, with severe limb deficiency NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of WNT7A-related limb deficiency...
EPG5 Gene Vici syndrome NGS Genetic Test
The purpose of the EPG5 Gene Vici Syndrome NGS Genetic Test is to detect mutations in the EPG5 gene...
HOXD13 Gene Vater association NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the HOXD13 gene that may be associate...
RAB3GAP1 Gene Warburg micro syndrome type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the RAB3GAP1 gene that cause Warburg Micro Synd...
ARNT2 Gene Webb-Dattani syndrome NGS Genetic Test
The purpose of this NGS genetic test is to confirm or rule out a diagnosis of Webb-Dattani syndrome...
TLR5 Gene Legionnaire disease, susceptibility to NGS Genetic Test
To identify genetic variations in the TLR5 gene that may increase susceptibility to Legionnaire dise...
Pol Gene Mutation Analysis
To detect mutations in the HIV Pol gene that confer resistance to antiretroviral drugs, aiding in tr...
H19 Gene Beckwith-Wiedemann syndrome NGS Genetic Test
To diagnose Beckwith-Wiedemann Syndrome by detecting pathogenic variants in the H19 gene using NGS t...
BMPR1A Gene Juvenile polyposis syndrome NGS Genetic Test
The purpose of the BMPR1A Gene Juvenile Polyposis Syndrome NGS Genetic Test is to identify mutations...
Cystic Fibrosis Mutation Screening (CFTR - Del 508)
The purpose of this test is to screen for the CFTR - Del 508 mutation in the CFTR gene, which is the...
Peripheral Blood for High Resolution Single Karyotyping
The purpose of high resolution single karyotyping is to detect chromosomal abnormalities that may ca...
RETT Syndrome Deletion & Duplication Detection
To detect deletions or duplications in the MECP2 gene for diagnosis and severity assessment of RETT...
William's Syndrome (FISH)
The purpose of the William's Syndrome FISH test is to detect the deletion of genetic material on chr...
Thalassemia Beta Mutation Analysis Test
The purpose of this assay is to detect disease-causing mutations in the HBB gene associated with bet...
HbE (Hemoglobin E) Mutation Screening
The purpose of HbE mutation screening is to identify individuals carrying the Hemoglobin E mutation...
Hereditary Persistence of Fetal Hemoglobin (HPFH)
The purpose of the HPFH test is to diagnose Hereditary Persistence of Fetal Hemoglobin by measuring...
Comprehensive Alpha and Beta Thalassemia Gene Panel
The purpose of this test is to identify genetic mutations associated with alpha and beta thalassemia...
Thalassemia Beta Trio Prenatal Mutation Detection Test
This test is useful for detection of mutations in the HBB gene linked to Beta Thalassemia. This assa...
GATA1 Gene Anemia, X-linked NGS Genetic Test
To diagnose GATA1 gene anemia and identify mutations in the GATA1 gene using NGS technology for accu...
Delta Beta-Thalassaemia Mutation Screening
The purpose of Delta Beta-Thalassaemia Mutation Screening is to detect mutations in the HBB gene tha...
Autosomal STR (Fragment Analysis)
The purpose of Autosomal STR (Fragment Analysis) is to determine biological relationships by compari...
Home DNA Test Kit - Swab Self Collection
To provide a convenient and private method for DNA sample collection for various genetic tests, incl...
Paternity DNA Test
To establish biological paternity with high accuracy for personal, legal, or familial reasons.
Family Tree Ancestry DNA Test
The Family Tree Ancestry DNA Test is designed to provide a detailed genetic ancestry breakdown for i...
Beef Adulteration Testing
To detect the presence of adulterants such as buffalo meat or dog meat in beef samples using DNA tes...
rbcL Sequencing
rbcL sequencing is used for identifying plant species, studying plant evolution and diversity, detec...
Wheat GMO Testing
The purpose of Wheat GMO Testing is to verify the non-GMO status of wheat products, addressing consu...
Soybeans GMO Testing
The purpose of Soybeans GMO Testing is to accurately detect the presence of genetically modified DNA...
Corn GMO Testing
The purpose of Corn GMO Testing is to detect the presence of genetically modified DNA in corn sample...
Chloroplast Genome Sequencing
The purpose of chloroplast genome sequencing is to analyze the DNA sequence of chloroplasts in plant...
Maternity DNA Test
The purpose of the Maternity DNA Test is to establish or exclude a biological relationship between a...
Paternal Lineage Y-STR Test
The primary purpose of the Y-STR test is to establish whether two or more males are related through...
Maternal Lineage X-SV DNA Test
The primary purpose of the Maternal Lineage X-SV DNA Test is to identify an individual's maternal ha...
Birds DNA Test
The primary purpose of the Birds DNA Test is to provide accurate genetic information about birds for...
STR Profiling
The primary purpose of STR profiling is to generate a unique DNA profile for an individual. This pro...
Legal Paternity DNA Test
The purpose of a Legal Paternity DNA Test is to provide scientifically conclusive evidence of biolog...
Sugar Beets
The purpose of the Sugar Beets GMO Test is to detect the presence of genetically modified organisms...
Rice Genome Sequencing and Variant Calling-30X
The purpose of rice genome sequencing and variant calling is to provide a comprehensive genetic map...
Chloroplast Genome Sequencing and Analysis
The primary purpose of chloroplast genome sequencing and analysis is to obtain the complete genetic...
Rice Genome Sequencing-30X
The primary purpose of Rice Genome Sequencing-30X is to provide a complete genetic blueprint of a ri...
Rice Genome Sequencing-10X
The purpose of Rice Genome Sequencing-10X is to provide a complete genetic profile of a rice plant....
Diploid Plant Genome Reference Based Data Analysis-Illumina
The primary purpose of this analysis is to detect genetic mutations, insertions, deletions, and othe...
Polyploid Plant Genome Reference Based Data Analysis-Illumina
The purpose of this analysis is to accurately identify and interpret genetic variations in polyploid...
Diploid Plant Genome De Novo Assembly and Annotation-Illumina
The purpose of this test is to generate a high-quality de novo genome assembly and annotation for di...
Polyploid Plant Genome De Novo Assembly and Annotation-Illumina
The primary purpose of this test is to generate a high-quality reference genome for polyploid plant...
RNA Extraction from Soil
The primary purpose of RNA extraction from soil is to obtain RNA molecules from the microbial commun...
GAPDH Gene Load Test
To quantify the load of the GAPDH gene, which may indicate viral infection levels or genetic disorde...
7 Kb Matepair Library Preparation
To identify large structural variations in the genome for accurate diagnosis of genetic conditions a...
3 Kb Matepair Library Preparation
The purpose of 3 Kb matepair library preparation is to identify large structural variants in the gen...
12 Kb Matepair Library Preparation
To identify large-scale genomic rearrangements for diagnosis and management of cancer, genetic disor...
Eukaryotic mRNA Sequencing Library Preparation
The purpose of Eukaryotic mRNA Sequencing Library Preparation is to analyze the transcriptome for re...
Eukaryotic SmallRNA Library Preparation
To prepare libraries for smallRNA sequencing to analyze gene expression patterns and diagnose diseas...
ddRAD Library Preparation
The primary purpose of ddRAD library preparation is to generate a reduced-representation sequencing...
Longevity Epigenetic DNA Methylation Biological Age BioAge DNA Test
The purpose of the BioAge DNA Test is to determine your biological age compared to chronological age...
Genealogy Telomere Age Testing
The primary purpose of Genealogy Telomere Age Testing is to evaluate biological aging by measuring t...
Pompe Disease Quantitative Blood Test
The purpose of this test is to quantitatively assess the enzymatic activity of acid alpha-glucosidas...
Very Long Chain Fatty Acids Test
Very long chain fatty acids (VLCFAs), phytanic acid and pristanic acid are metabolised by peroxisome...
Glucose-6-Phosphate Dehydrogenase (G6PD) Full-Length Gene Sequence Analysis
The purpose of this test is to identify mutations in the G6PD gene that lead to enzyme deficiency. I...
Wilson Disease ATP7 B Gene Mutation Detection Test
This test detects mutations in the ATP7B gene to establish a molecular diagnosis of Wilson Disease....
Xpert Xpress SARS-CoV-2 Qualitative Test
The purpose of this test is to detect SARS-CoV-2 RNA in respiratory specimens and help clinicians di...
NGSMito Genome NGS Genetic Test
The primary purpose of the NGSMito Genome NGS Genetic Test is to identify mtDNA variants that may ca...
FLNA Gene Melnick-Needles syndrome NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the FLNA gene that are associated with...
TNNT3 Gene Arthrogryposis, distal, type 2B NGS Genetic Test
To detect mutations in the TNNT3 gene associated with distal arthrogryposis type 2B (DA2B) for accur...
DISP1 Gene Craniofacial and neuro-developmental abnormalities NGS Genetic Test
To detect mutations in the DISP1 gene that cause craniofacial and neuro-developmental abnormalities,...
CCDC103 Gene Primary ciliary dyskinesia type 17 NGS Genetic Test
To diagnose Primary Ciliary Dyskinesia Type 17 by identifying mutations in the CCDC103 gene using Ne...
RSPH4A Gene Primary ciliary dyskinesia type 11 NGS Genetic Test
The purpose of the RSPH4A Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutat...
SLC39A4 Gene Acrodermatitis enteropathica NGS Genetic Test
The purpose of the SLC39A4 Gene Acrodermatitis Enteropathica NGS Genetic Test is to identify mutatio...
ENAM Gene Amelogenesis imperfecta type 1B NGS Genetic Test
The purpose of the ENAM Gene Amelogenesis Imperfecta Type 1B NGS Genetic Test is to detect mutations...
ITGB6 Gene Amelogenesis imperfecta type 1H NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ITGB6 gene that cause Amelogenes...
MMP20 Gene Amelogenesis imperfecta type 2A2 NGS Genetic Test
To diagnose amelogenesis imperfecta type 2A2 by detecting mutations in the MMP20 gene using Next-Gen...
SLC24A4 Gene Amelogenesis imperfecta type 2A5 NGS Genetic Test
The purpose of this test is to identify mutations in the SLC24A4 gene and other genes associated wit...
FAM83H Gene Amelogenesis imperfecta type 3 NGS Genetic Test
To identify mutations in the FAM83H gene for accurate diagnosis of Amelogenesis Imperfecta Type 3, a...
C4orf26 Gene Amelogenesis imperfecta type 2A4 NGS Genetic Test
The purpose of the C4orf26 Gene Amelogenesis Imperfecta Type 2A4 NGS Genetic Test is to detect mutat...
AMTN Gene Amelotin deficiency NGS Genetic Test
The purpose of this test is to diagnose genetic mutations in the AMTN gene that cause Amelotin defic...
DSPP Gene Dentinogenesis imperfecta, Shields type 3 NGS Genetic Test
To diagnose Shields Type 3 Dentinogenesis Imperfecta by identifying pathogenic mutations in the DSPP...
INHBA Gene FSH releasing protein deficiency NGS Genetic Test
The purpose of this test is to diagnose INHBA gene mutations that cause FSH releasing protein defici...
RNA Extraction from Fungus-Spores
The purpose of RNA extraction from fungus-spores is to isolate high-quality RNA for molecular analys...
RNA Extraction from Fungus-Mycelium
The primary purpose of RNA extraction from fungus-mycelium is to obtain high-quality, intact RNA for...