Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist | DNA Labs India Medical Team
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist
MBBS, MD (Medical Genetics)
🏅 Reg. No: 8532
Credentials
MBBS, MD (Medical Genetics)
Recognized By
Karnataka Medical Council
Registry Number
8532
Experience
—
Profiles
Tests Medically Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA
- 16DPD Gene Mutations (5-FU Toxicity) Detection Test
- 30Nx Gen Sequencing: Maturity Onset Diabetes of Young (MODY) Test
- 515-Fluorouracil (5FU) Toxicity Test
- 56ACTN3 (Sports Gene) Genotyping Test
- 59Acute Myeloid Leukemia (AML) Cytogenetics Panel Test
- 67Comprehensive Leukemia Panel (SNVs, Small INDELs and CNVs)
- 68ADRB2 Genotyping for Beta-2 Agonist Responsiveness Test
- 81Alkaptonuria Urine Quantitative Test
- 85Alpha-1-Antitrypsin Quantitation (AAT) Test
- 86Alpha-1-Antitrypsin (AAT) Phenotype Test
- 93Amino Acid Non-Ketotic Hyperglycinemia Panel Quantitative CSF & Plasma Test
- 96Amino Acids Qualitative Two Dimensional Urine Test
- 98Amino Acids Qualitative Plasma Test
- 99Amino Acids Qualitative CSF Test
- 111Amyloid Protein Identification Test
- 112AML ETO t(8;21) Gene Rearrangement Quantitative MRD Monitor Test
- 113Analyzer 18 SMA 18 Test Panel
- 116Analyzer 26 SMA 26 Test Panel
- 126Angelman Syndrome Test
- 160APO E Genotyping Test
- 180Autogen Panel Test
- 191BCR-ABL Gene Rearrangement PCR Qualitative Test
- 200Biotinidase Newborn Screen Test
- 253CALR Mutation Detection Test
- 256Cancer Gene Any 3 Markers NGS Test
- 259Canavan Disease Test
- 261Cancer Targeted Gene Panel: Lung Test
- 266Cancer 50 Gene Panel NGS Test
- 292Chimerism Pre-Engraftment Donor & Recipient Test
- 301Chromosomal Microarray (CMA) 750K High Resolution Test
- 303Chromofic Karyoarray Test
- 306Chromosome Analysis Products of Conception Reflex Testing to FISH for Aneuploidy Detection Test
- 310Chromosome Analysis Philadelphia Test
- 311Chromosome Analysis (Karyotype) Couple Blood Test
- 312Chromosome XON Microarray High Resolution Test
- 313Chromosome Analysis Chorionic Villus Test
- 314Chromosome Analysis High Resolution Neonatal Test
- 315Chromosome Interphase Profiling Products of Conception Test
- 316Chromosome Analysis Cord Blood Test
- 317Chromultra Chromosome SNP HD Microarray Test
- 323Chronic Lymphocytic Leukemia (CLL) Mutations Detection Panel 2 Test
- 324C-KIT Mutation Detection PCR Test
- 331Clopidogrel CYP2C19 Genotype Test
- 344COMT Genotyping Test
- 346Connexin 30 Mutation Detection Test
- 348Connexin 26 Mutation Detection Test
- 461CYP2C19 Genotyping Test
- 463Cystic Fibrosis Newborn Screen Test
- 467CYP3A4*22 Genotyping Test
- 504Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
- 519Episodic Ataxia Type 1 Hotspot Test
- 521Episodic Ataxia Type 2 Hotspot Test
- 539Fabry Disease Quantitative Blood Test
- 547Factor V Leiden Mutation Analysis Test
- 548Fanconi's Anemia Stress Cytogenetics Test
- 559FIP1L1-PGDFRA Gene Rearrangement Detection Test
- 561FISH - t(8;21) or LSI ETO/AML1 Test
- 563FISH - 11q23 or LSI MLL Gene Breakapart Test
- 564First Trimester Triple Marker Test
- 569FISH - Amnio Three Probes: Trisomy 18 X & Y Test
- 570FISH - Amnio One Probe: Trisomy 21 / Down Syndrome Test
- 572FISH - BCR / ABL or Philadelphia Translocation Test
- 574FISH - BCL6 (3q27) Gene Rearrangement Test
- 576FISH - Aneuploidy Detection Products of Conception (POC) Using Chromosomes 13, 18, 21, X & Y Test
- 578FISH - del13q or LSI D13S319 Test
- 581FISH - FGFR1 (8p12) Gene Rearrangement Test
- 583FISH - MET (7q31) Amplification Test
- 588FISH - inv(16) or LSI CBFB Test
- 591FISH - NTRK 3 Gene Rearrangement Assay Test
- 594FISH - Microdeletion Detection for Williams Syndrome Test
- 596FISH - Postnatal Gender Confirmation Test
- 597FISH - Prenatal Comprehensive Screening Panel 1 Test
- 598FISH - RARA (17q21) Variant Translocation Test
- 600FISH - Sperm Aneuploidy Test
- 605FISH - t(12;21) or LSI TEL/AML1 Test
- 608FISH - t(8;14) or MYC/IGH for Burkitt & Non-Hodgkin Lymphoma Test
- 609FISH - SRY Gene Test
- 610FISH - Prader-Willi Syndrome / SNRPN Test
- 611FISH - Trisomy 21 / Down Syndrome Test
- 613FLT3 Gene Mutation Quantitative Monitor Test
- 620Fragile X (FMR1) Carrier Test
- 623Fragile X Tremor / Ataxia Syndrome (FXTAS) Test
- 626FMF First Trimester Screen Test
- 630G6PD Gene Mutation Detection Test
- 636Galactosemia Panel 3 Test
- 637Galactosemia Panel 1 Test
- 638Galactosemia Classical (Transferase) Quantitative Blood Test
- 644Galactosemia (GALT) Gene Mutation Detection Test
- 651Genetic Counselling and Genetic Test
- 652Gaucher Disease Quantitative Blood Test
- 654Genetic Mapping for Gynecological Disorders Test
- 659Whole Genome Test
- 660Genodermatoses Exome Sequencing Panel Test
- 668GM2 Gangliosidosis Quantitative Blood Tay Sachs & Sandhoff Disease Test
- 676GM1 Gangliosidosis Quantitative Blood Test
- 692Haptoglobin Genotyping Test
- 697Hemoglobinopathy Newborn Screen Test
- 699Hemochromatosis Detection HFE Genotyping Test
- 746Herpes Simplex Virus (HSV) Type I PCR Qualitative Test
- 749HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test
- 773HLA - A2 (A*02) Test
- 781HLA - B22 (B*22) Test
- 782HLA - B38 (B*38) Test
- 783HLA - B5 (B*51/52) Test
- 784HLA - Cw6 (C*06) Test
- 785HLA - DQB1 Typing Test
- 786HLA - DR & DQB1 (Class II) Typing Test
- 788HLA - B8 (B*08) Test
- 789HLA - DP Typing Test
- 790HLA - Celiac Disease (DR-DQB1-DQA1 Haplotype Association including DQ2DQ8) Test
- 791HLA - DR7 (DRB1*07) Test
- 792HLA - DR4 (DRB1*04) Test
- 800HLA B Locus Typing: Any Antigen Test
- 802HLA DNA High Resolution Typing - A Locus Test
- 803HLA DNA High Resolution Typing - C Locus Test
- 804HLA DNA High Resolution Typing - DQB1 Locus Test
- 805HLA DNA High Resolution Typing - DRB1 Locus Test
- 809HLA DNA Typing High Resolution by Next Generation Sequencing (NGS) Test
- 812HLA Hypersensitivity to Abacavir (B*57:01) Test
- 813HLA Hypersensitivity to Allopurinol (B*58:01) Test
- 814HLA Hypersensitivity to Carbamazepine & Phenytoin (B*15:02) Test
- 845Huntington Disease Mutation Detection Test
- 859IgVH Mutation Detection Screening Test
- 1122Inv16 (p13q22) / t(1616)(p13q22) Gene Rearrangement Qualitative PCR Test
- 1130Inv16 (p13q22) / t(1616)(p13q22) Gene Rearrangement Quantitative MRD Monitor Test
- 1133JAK 2 Mutation Detection Qualitative PCR Test
- 1136JAK 2 V617F CALR & MPL Mutation Detection Profile Test
- 1158Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test
- 1159Leigh Syndrome Mitochondrial Mutation Detection Test
- 1169Leukemia Genetic Profile - Any 6 Markers PCR Qualitative Test
- 1180Leucocyte Adhesion Deficiency (LAD I & II) Test
- 1214Maternal Serum Screen 2: Advanced Reflex to Maternal Blood for Fetal DNA (MBFD) Chromosome 21 Test
- 1215Maternal Serum Screen 3 Triple Test Test
- 1217Maternal Serum Screen 2 Dual Test Test
- 1220Medullary Thyroid Carcinoma Mutation Detection Test
- 1221Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
- 1229MERRF (Myoclonic Epilepsy Associated with Ragged Red Fibres) Mutation Detection Test
- 1239Methylmalonic Acid Quantitative Urine Test
- 1240Microarray Gene Chip Scanning Test
- 1242MICM (Maternally Inherited Cardiomyopathy) Mutation Detection Test
- 1250Mitochondrial Mutation Detection Comprehensive Panel Test
- 1257MPL (Myeloproliferative Leukemia) Gene Mutation Test
- 1261Mucopolysaccharidosis (MPS) Type VI (Maroteaux Lamy) Quantitative Blood Test
- 1265MTHFR Gene Mutation Qualitative PCR Test
- 1285Myotonic Dystrophy Comprehensive Profile Test
- 1286Myotonic Dystrophy Type 2 Test
- 1287NAFLD - PNPLA3 & TM6SF2 Genotyping Test
- 1294Myotonic Dystrophy Type 1 Test
- 1300Newborn Screening Panel Basic Test
- 1301Newborn Screening Panel Comprehensive Test
- 1302Newborn Screening Panel Extended Test
- 1303Newborn Screening Panel: NBS Quad Test
- 1308Newborn Screening Panel 7 Test
- 1313Notch3 Mutation Detection CADASIL Test
- 1315NPM1 Gene Mutation Test
- 1320Nx Gen Sequencing: 4H Syndrome Test
- 1323Nx Gen Sequencing: Familial Hemiplegic Migraine Test
- 1324Nx Gen Sequencing: Alkaptonuria Test
- 1325Nx Gen Sequencing: Alexander Disease Test
- 1327Nx Gen Sequencing: Alzheimer's Disease Test
- 1328Nx Gen Sequencing: Amyotrophic Lateral Sclerosis Test
- 1329Nx Gen Sequencing: Ataxia-Telangiectasia Test
- 1330Nx Gen Sequencing: Adrenoleukodystrophy Test
- 1331Nx Gen Sequencing: Cataract Test
- 1332Nx Gen Sequencing: Bethlem Myopathy Myofibrillar Myopathy & Ullrich Muscular Dystrophy Test
- 1334Nx Gen Sequencing: Dravet's Syndrome & Early Infantile Epileptic Encephalopathy Test
- 1335Nx Gen Sequencing: Comprehensive Epilepsy Test
- 1336Nx Gen Sequencing: Glaucoma Test
- 1337Nx Gen Sequencing: Dystonia Test
- 1338Nx Gen Sequencing: Duchenne & Becker Muscular Dystrophy Test
- 1339Nx Gen Sequencing: Canavan Disease Test
- 1340Nx Gen Sequencing: Episodic Ataxia Test
- 1341Nx Gen Sequencing: Hereditary Retinoblastoma Test
- 1344Nx Gen Sequencing: Leber Congenital Amaurosis Test
- 1345Nx Gen Sequencing: Charcot-Marie-Tooth Disease & Sensory Neuropathies Test
- 1351NGS Gen Whole Exome Sequencing Trio Test
- 1357Nx Gen Sequencing: Retinitis Pigmentosa Test
- 1358Oncomine Acute Myeloid Leukaemia (AML) Panel Test
- 1359Nx Gen Sequencing: Tuberous Sclerosis Complex Test
- 1360Oncomine Chronic Myelomonocytic Leukaemia (CMML) Panel Test
- 1361Oncomine Myelodysplastic Syndrome (MDS) Panel Test
- 1372Oncomine Juvenile Myelomonocytic Leukaemia (JMML) Panel Test
- 1375Oncopro Hereditary Cancer Risk Panel (Screens 200 Genes) Test
- 1377Organic Acids Urine Test
- 1390Preimplantation Genetic Screening (PGS) Test
- 1393Prenatal Diagnosis Panel 1 Chorionic Villus Biopsy Test
- 1398Pregnenolone Test
- 1400SCA-23 (Spinocerebellar Ataxia): PDYN Gene Mutation Test
- 1402SCA-2 (Spinocerebellar Ataxia): ATXN2 Gene Mutation Test
- 1404SCA-8 (Spinocerebellar Ataxia): ATXN8OS & ATXN8 Gene Mutation Test
- 1409SCA-6 (Spinocerebellar Ataxia): CACNA1A Gene Mutation Test
- 1413SCA-5 (Spinocerebellar Ataxia): SPTBN2 Gene Mutation Test
- 1418t(9;11) (p21-22;q23) (MLL-AF9) PCR Qualitative Test
- 1421t(11;19) (q23;p13.3) TCF3-BX1(E2A-PBX1) PCR Qualitative Test
- 1433Thalassemia Beta Complete Gene Analysis with MCC Test
- 1435Thalassemia Alpha Mutation Analysis Test
- 1439Thalassemia Profile Test
- 1451Tryptophan Quantitative Plasma Test
- 1460GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls Type NGS Genetic Test
- 1461Y-Chromosome Microdeletion Detection PCR Test
- 1462GNAT2 Gene Achromatopsia Type 4 NGS Genetic Test
- 1464Ophthalmology Eyes Vision Panel NGS Genetic Test
- 1465PDE6H Gene Achromatopsia Type 6 NGS Genetic Test
- 1468CNGA3 Gene Achromatopsia Type 2 NGS Genetic Test
- 1471CACNA1F Gene Aland Island Eye Disease NGS Genetic Test
- 1472TYR Gene Albinism, Oculocutaneous Type 1A NGS Genetic Test
- 1473CNGB3 Gene Achromatopsia Type 3 NGS Genetic Test
- 1474TYR Gene Albinism, Oculocutaneous Type 1B NGS Genetic Test
- 1475OCA2 Gene Albinism, Oculocutaneous Type 2 NGS Genetic Test
- 1476ADAMTSL4 Gene Ectopia Lentis, Isolated, Autosomal Recessive NGS Genetic Test
- 1479ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test
- 1480LOXL1 Gene Exfoliation Syndrome, Susceptibility to NGS Genetic Test
- 1481COL15A1 Gene Early Onset Glaucoma, Phenotype Modifier of, COL15A1 Related NGS Genetic Test
- 1482SALL4 Gene Duane Retraction Syndrome NGS Genetic Test
- 1485EFEMP1 Gene Doyne Honeycob Retinal Dystrophy NGS Genetic Test
- 1486FBN1 Gene Ectopia Lentis, Familial NGS Genetic Test
- 1487NLRP1 Gene Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia NGS Genetic Test
- 1488TGFBI Gene Corneal Dystrophy, Epithelial Basement Membrane NGS Genetic Test
- 1489ADAMTSL4 Gene Ectopia Lentis Et Pupillae NGS Genetic Test
- 1490NDP Gene Exudative Vitreoretinopathy Type 2 NGS Genetic Test
- 1491SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic Test
- 1492TSPAN12 Gene Exudative Vitreoretinopathy Type 5 NGS Genetic Test
- 1493KIF21A Gene Fibrosis of Extraocular Muscles, Congenital Type 1 NGS Genetic Test
- 1494KIF7 Gene Acrocallosal Syndrome NGS Genetic Test
- 1495RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 NGS Genetic Test
- 1497SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic Test
- 1498PLXNB3 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test
- 1502ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic Test
- 1503RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 NGS Genetic Test
- 1504ABCD1 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test
- 1505SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic Test
- 1506IFIH1 Gene Aicardi-Goutieres Syndrome Type 7 NGS Genetic Test
- 1508AAAS Gene Achalasia Addisonianism Alacrimia Syndrome NGS Genetic Test
- 1510CDKL5 Gene Angelman-Like Syndrome NGS Genetic Test
- 1511NLGN3 Gene Asperger Syndrome Susceptibility X-Linked Type 2 NGS Genetic Test
- 1512MRE11 Gene Ataxia Telangiectasia Like Disorder NGS Genetic Test
- 1513ATM Gene Ataxia-Telangiectasia NGS Genetic Test
- 1514COX20 Gene Ataxia and Muscle Hypotonia NGS Genetic Test
- 1515MT-TV Gene Ataxia, Progressive Seizures, Mental Deterioration, and Hearing Loss, MT-TV Related NGS Genetic Test
- 1516PRPS1 Gene Arts Syndrome NGS Genetic Test
- 1517FLVCR1 Gene Ataxia, Posterior Column, with Retinitis Pigmentosa NGS Genetic Test
- 1518SETX Gene Ataxia-Oculomotor Apraxia Type 2 NGS Genetic Test
- 1520MECP2 Gene Angelman-Like Syndrome NGS Genetic Test
- 1521PNKP Gene Ataxia-Oculomotor Apraxia Type 4 NGS Genetic Test
- 1522APTX Gene Ataxia-Oculomotor Apraxia Type 1 NGS Genetic Test
- 1523RNF170 Gene Ataxia, Sensory Type 1, Autosomal Dominant NGS Genetic Test
- 1524DRD4 Gene Attention Deficit-Hyperactivity Disorder NGS Genetic Test
- 1526BPIFA3 Gene Autism Spectrum Disorder NGS Genetic Test
- 1527AHNAK2 Gene Autism Spectrum Disorder NGS Genetic Test
- 1529ANKS3 Gene Autism Spectrum Disorder NGS Genetic Test
- 1531CP Gene Cerebellar Ataxia NGS Genetic Test
- 1532GBA2 Gene Cerebellar Ataxia with Spasticity NGS Genetic Test
- 1534ASCL1 Gene Central Hypoventilation Syndrome, Congenital NGS Genetic Test
- 1535SNX14 Gene Cerebellar Ataxia, SNX14 Related NGS Genetic Test
- 1536DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy, Autosomal Recessive NGS Genetic Test
- 1537CAMTA1 Gene Cerebellar Ataxia, Nonprogressive, with Mental Retardation NGS Genetic Test
- 1538DNM2 Gene Centronuclear Myopathy Type 1 NGS Genetic Test
- 1539SPEG Gene Centronuclear Myopathy Type 5 NGS Genetic Test
- 1540ATP8A2 Gene Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 NGS Genetic Test
- 1541CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test
- 1542WDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 NGS Genetic Test
- 1543CA8 Gene Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion Type 3 NGS Genetic Test
- 1544MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic Test
- 1545CST3 Gene Cerebral Amyloid Angiopathy NGS Genetic Test
- 1546VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1 NGS Genetic Test
- 1547PMP22 Gene CMT1E NGS Genetic Test
- 1549MPZ Gene CMT2I NGS Genetic Test
- 1551TRPV4 Gene CMT2C NGS Genetic Test
- 1552MPZ Gene CMT2J NGS Genetic Test
- 1554LMNA Gene CMT2B1 NGS Genetic Test
- 1555MED25 Gene CMT2B2 NGS Genetic Test
- 1557GARS1 Gene CMT2D NGS Genetic Test
- 1559MTMR2 Gene CMT4B1 NGS Genetic Test
- 1560GDAP1 Gene CMT4A NGS Genetic Test
- 1562SH3TC2 Gene CMT4C NGS Genetic Test
- 1563COQ9 Gene Coenzyme Q10 deficiency type 5 NGS Genetic Test
- 1565CNTN1 Gene Compton-North congenital myopathy NGS Genetic Test
- 1566VPS13B Gene Cohen syndrome NGS Genetic Test
- 1567PDSS2 Gene Coenzyme Q10 deficiency type 3 NGS Genetic Test
- 1568RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic Test
- 1569PDSS1 Gene Coenzyme Q10 deficiency type 2 NGS Genetic Test
- 1570RPGRIP1L Gene COACH syndrome NGS Genetic Test
- 1572SCN2A Gene Convulsions, benign familial infantile, 3 NGS Genetic Test
- 1575KCTD17 Gene DYT26, myoclonic NGS Genetic Test
- 1577DRD2 Gene DYT11, DRD2 related NGS Genetic Test
- 1579SGCE Gene DYT11 NGS Genetic Test
- 1580HPCA Gene DYT2 NGS Genetic Test
- 1581PRRT2 Gene DYT10 NGS Genetic Test
- 1582PRKRA Gene DYT16 NGS Genetic Test
- 1583CACNA1B Gene DYT23 NGS Genetic Test
- 1584ANO3 Gene DYT24 NGS Genetic Test
- 1586SPR Gene Dystonia, DOPA-responsive, autosomanl recessive NGS Genetic Test
- 1589TOR1A Gene DYT1 NGS Genetic Test
- 1591CDKL5 Gene Early infantile epileptic encephalopathy type 2 NGS Genetic Test
- 1592ST3GAL3 Gene Early infantile epileptic encephalopathy type 15 NGS Genetic Test
- 1595NECAP1 Gene Early infantile epileptic encephalopathy type 21 NGS Genetic Test
- 1596SCN8A Gene Early infantile epileptic encephalopathy type 13 NGS Genetic Test
- 1597GNAO1 Gene Early infantile epileptic encephalopathy type 17 NGS Genetic Test
- 1598WWOX Gene Early infantile epileptic encephalopathy type 28 NGS Genetic Test
- 1599KCNT1 Gene Early infantile epileptic encephalopathy type 14 NGS Genetic Test
- 1600AARS1 Gene Early infantile epileptic encephalopathy type 29 NGS Genetic Test
- 1601TBC1D24 Gene Early infantile epileptic encephalopathy type 16 NGS Genetic Test
- 1603GRIN2B Gene Early infantile epileptic encephalopathy type 27 NGS Genetic Test
- 1604HCN1 Gene Early infantile epileptic encephalopathy type 24 NGS Genetic Test
- 1605SIK1 Gene Early infantile epileptic encephalopathy type 30 NGS Genetic Test
- 1606SLC25A22 Gene Early infantile epileptic encephalopathy type 3 NGS Genetic Test
- 1608ADGRV1 Gene Febrile seizures, familial, type 4 NGS Genetic Test
- 1609SCN11A Gene Episodic pain syndrome type 3, familial NGS Genetic Test
- 1611PRNP Gene Fatal familial imsomnia NGS Genetic Test
- 1612FAT1 Gene Facioscapulohumeral dystrophy-like phenotype, FAT1 related NGS Genetic Test
- 1613HOXB1 Gene Facial paresis type 3 NGS Genetic Test
- 1615CACNA1A Gene Familial hemiplegic migraine type 1 NGS Genetic Test
- 1616TBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic Test
- 1617CASK Gene FG syndrome type 4 NGS Genetic Test
- 1618ATP1A2 Gene Familial hemiplegic migraine type 2 NGS Genetic Test
- 1619SCN9A Gene Erythermalgia, primary NGS Genetic Test
- 1620SCN1A Gene Familial hemiplegic migraine type 3 NGS Genetic Test
- 1622FLNA Gene FG syndrome type 2 NGS Genetic Test
- 1625FMR1 Gene Fragile X tremor/ataxia syndrome NGS Genetic Test
- 1628STX1B Gene Generalized epilepsy with febrile seizures plus type 9 NGS Genetic Test
- 1629KCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia NGS Genetic Test
- 1630SCN9A Gene Generalized epilepsy with febrile seizures plus type 7 NGS Genetic Test
- 1631SCN1B Gene Generalized epilepsy with febrile seizures plus type 1 NGS Genetic Test
- 1633CEP41 Gene Joubert syndrome type 15 NGS Genetic Test
- 1635INPP5E Gene Joubert syndrome type 1 NGS Genetic Test
- 1636TCTN1 Gene Joubert syndrome type 13 NGS Genetic Test
- 1637TIMM8A Gene Jensen syndrome NGS Genetic Test
- 1639CSPP1 Gene Joubert syndrome type 21 NGS Genetic Test
- 1640FLNA Gene Intestinal pseudoobstraction, neuronal NGS Genetic Test
- 1641TCTN3 Gene Joubert syndrome type 18 NGS Genetic Test
- 1642TMEM237 Gene Joubert syndrome type 14 NGS Genetic Test
- 1643CNKSR2 Gene Intellectual disability nonsyndromic, CNKSR2 related NGS Genetic Test
- 1644TMEM216 Gene Joubert syndrome type 2 NGS Genetic Test
- 1645TMEM231 Gene Joubert syndrome type 20 NGS Genetic Test
- 1646PDE6D Gene Joubert syndrome type 22 NGS Genetic Test
- 1647TCTN2 Gene Joubert syndrome type 24 NGS Genetic Test
- 1648OFD1 Gene Joubert syndrome type 10 NGS Genetic Test
- 1650RPGRIP1L Gene Joubert syndrome type 7 NGS Genetic Test
- 1652CEP290 Gene Joubert syndrome type 5 NGS Genetic Test
- 1653AHI1 Gene Joubert syndrome type 3 NGS Genetic Test
- 1654NPHP1 Gene Joubert syndrome type 4 NGS Genetic Test
- 1655EIF2B1 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
- 1656SCP2 Gene Leukoencephalopathy with dystonia and motor neuropathy NGS Genetic Test
- 1657EIF2B4 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
- 1659LMNA Gene Limb-girdle muscular dystrophy, autosomal dominant type 1B NGS Genetic Test
- 1660DNAJB6 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1E NGS Genetic Test
- 1661CSF1R Gene Leukoencephalopathy, diffuse hereditary, with spheroids NGS Genetic Test
- 1662EIF2B5 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
- 1663EIF2B3 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
- 1664SGCD Gene Limb-girdle muscular dystrophy, autosomal recessice type 2F NGS Genetic Test
- 1665CAV3 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1C NGS Genetic Test
- 1666RNASET2 Gene Leukoencephalopathy, cystic without megalencephaly NGS Genetic Test
- 1667MYOT Gene Limb-girdle muscular dystrophy, autosomal dominant type 1A NGS Genetic Test
- 1668EIF2B2 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
- 1669CAPN3 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2A NGS Genetic Test
- 1671NDE1 Gene Lissencephaly type 4 with microcephaly NGS Genetic Test
- 1672L1CAM Gene MASA syndrome NGS Genetic Test
- 1674PIEZO2 Gene Marden-Walker syndrome NGS Genetic Test
- 1675EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test
- 1677ATRX Gene Mental retardation with hypotonic facies syndrome, X-linked NGS Genetic Test
- 1678NXF5 Gene Mental retardation non-syndromic NGS Genetic Test
- 1679ELK1 Gene Mental retardation non-syndromic NGS Genetic Test
- 1680XBP1 Gene Major affective disorder 7 NGS Genetic Test
- 1682CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic Test
- 1683WDR81 Gene Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2 NGS Genetic Test
- 1684SGCG Gene Limb-girdle muscular dystrophy, autosomal recessive type 2C NGS Genetic Test
- 1685SGCA Gene Limb-girdle muscular dystrophy, autosomal recessive type 2D NGS Genetic Test
- 1686RAB40AL Gene Mental retardation, X-linked NGS Genetic Test
- 1687PUS3 Gene Mental retardation, autosomal recessive type 55 NGS Genetic Test
- 1688IQSEC2 Gene Mental retardation, X-linked type 1 NGS Genetic Test
- 1689ZDHHC9 Gene Mental retardation, X-linked syndromic, Raymond type NGS Genetic Test
- 1691UPF3B Gene Mental retardation, X-linked type 14 NGS Genetic Test
- 1693TUSC3 Gene Mental retardation, autosomal recessive type 7 NGS Genetic Test
- 1694DDX3X Gene Mental retardation, X-linked type 102 NGS Genetic Test
- 1695CUL4B Gene Mental retardation, X-linked type 15 NGS Genetic Test
- 1696FGD1 Gene Mental retardation, X-linked type 16 NGS Genetic Test
- 1697MECP2 Gene Mental retardation, X-Linked type 13 NGS Genetic Test
- 1698UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type NGS Genetic Test
- 1699SLC9A6 Gene Mental retardation, X-linked syndromic, Christianson type NGS Genetic Test
- 1700EFHC2 Gene Mental retardation, x-linked, EFHC2 related NGS Genetic Test
- 1701BRWD3 Gene Mental retardation, X-linked type 93 NGS Genetic Test
- 1702NEXMIF Gene Mental retardation, X-linked, nonsyndromic NGS Genetic Test
- 1703HSD17B10 Gene Mental retardation, X-linked type 17 NGS Genetic Test
- 1704USP9X Gene Mental retardation, X-linked type 99 NGS Genetic Test
- 1705SYP Gene Mental retardation, X-linked type 96 NGS Genetic Test
- 1706AFF2 Gene Mental retardation, X-linked, associated with fragile site FRAXE NGS Genetic Test
- 1707MAGT1 Gene Mental retardation, X-linked type 95 NGS Genetic Test
- 1708ATP6AP2 Gene Mental retardation, X-linked with epilepsy NGS Genetic Test
- 1709GRIA3 Gene Mental retardation, X-linked type 94 NGS Genetic Test
- 1710ZNF711 Gene Mental retardation, X-linked type 97 NGS Genetic Test
- 1711PHF8 Gene Mental retardation, X-linked, Siderius type NGS Genetic Test
- 1714SOX3 Gene Mental retardation, X-linked, with isolated growth hormone deficiency NGS Genetic Test
- 1715OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance NGS Genetic Test
- 1716DNAL4 Gene Mirror movements type 3 NGS Genetic Test
- 1717RYR1 Gene Minicore myopathy with external ophthalmoplegia NGS Genetic Test
- 1719UQCRQ Gene Mitochondrial complex III deficiency NGS Genetic Test
- 1720FASTKD2 Gene Mitochondrial complex IV deficiency NGS Genetic Test
- 1721TTC19 Gene Mitochondrial complex III deficiency, nuclear type 2 NGS Genetic Test
- 1722PET100 Gene Mitochondrial complex IV deficiency NGS Genetic Test
- 1723COA8 Gene Mitochondrial complex IV deficiency NGS Genetic Test
- 1724UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test
- 1725RAD51 Gene Mirror movements type 2 NGS Genetic Test
- 1726SDHD Gene Mitochondrial complex II deficiency NGS Genetic Test
- 1727BCS1L Gene Mitochondrial complex III deficiency NGS Genetic Test
- 1728MT-CO3 Gene Mitochondrial complex IV deficiency NGS Genetic Test
- 1729COX6B1 Gene Mitochondrial complex IV deficiency NGS Genetic Test
- 1730MGME1 Gene Mitochondrial DNA depletion syndrome type 11 NGS Genetic Test
- 1731RRM2B Gene Mitochondrial DNA depletion syndrome 8B, MNGIE type NGS Genetic Test
- 1732TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic Test
- 1733POLG Gene Mitochondrial DNA depletion syndrome type 4A NGS Genetic Test
- 1734FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 NGS Genetic Test
- 1736POLG Gene Mitochondrial DNA depletion syndrome type 4B NGS Genetic Test
- 1737MPV17 Gene Mitochondrial DNA depletion syndrome type 6 NGS Genetic Test
- 1738CHRNE Gene Myasthenic syndrome, congenital NGS Genetic Test
- 1739DOK7 Gene Myasthenic syndrome, congenital, type 10 NGS Genetic Test
- 1742CHRNB1 Gene Myasthenic syndrome, congenital NGS Genetic Test
- 1743NOL3 Gene Myoclonus, familial cortical NGS Genetic Test
- 1744LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test
- 1745CHRND Gene Myasthenic syndrome, congenital, type 3A, slow channel NGS Genetic Test
- 1746NHLRC1 Gene Myoclonic epilepsy of Lafora NGS Genetic Test
- 1748RAPSN Gene Myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency NGS Genetic Test
- 1749ITGA7 Gene Myopathy due to Integrin 7A deficiency NGS Genetic Test
- 1750SLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic NGS Genetic Test
- 1751CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic Test
- 1752ACTA1 Gene Myopathy with fiber-type disproportion NGS Genetic Test
- 1753MEGF10 Gene Myopathy, areflexia, respiratory distress, and dysphagia, early-onset NGS Genetic Test
- 1754COL6A6 Gene Myopathy, COL6A6 related NGS Genetic Test
- 1755MICU1 Gene Myopathy with extrapyramidal signs NGS Genetic Test
- 1756MYH7 Gene Myopathy, distal type 1 NGS Genetic Test
- 1757CHRND Gene Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency NGS Genetic Test
- 1758STIM1 Gene Myopathy, tubular aggregate, type 1 NGS Genetic Test
- 1759CRYAB Gene Myopathy, desmin related, associated with mutation in the CRYAB gene NGS Genetic Test
- 1761SELENON Gene Myopathy with fiber-type disproportion NGS Genetic Test
- 1764KBTBD13 Gene Nemaline myopathy type 6 NGS Genetic Test
- 1765FOLR1 Gene Neurodegeneration due to cerebral folate transport deficiency NGS Genetic Test
- 1766KCTD3 Gene Neurodevelopmental disorder, KCTD3 related NGS Genetic Test
- 1769FRMPD4 Gene Neurodevelopmental disorder, FRMPD4 related NGS Genetic Test
- 1770CROCC Gene Neurodevelopmental disorder, CROCC related NGS Genetic Test
- 1771NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic Test
- 1773APC2 Gene Neurodevelopmental disorder, APC2-related NGS Genetic Test
- 1775PIGQ Gene Neurodevelopmental disorder, PIGQ related NGS Genetic Test
- 1776PINK1 Gene PARK6 Parkinson NGS Genetic Test
- 1777SNCA Gene PARK4 Parkinson NGS Genetic Test
- 1778FBXO7 Gene PARK15 Parkinson NGS Genetic Test
- 1780DNAJC6 Gene PARK19 Parkinson, juvenile-onset NGS Genetic Test
- 1781DNAJC13 Gene PARK21 Parkinson NGS Genetic Test
- 1782PRKN Gene PARK2 Parkinson NGS Genetic Test
- 1783PLA2G6 Gene PARK14 Parkinson NGS Genetic Test
- 1784SYNJ1 Gene PARK20 Parkinson NGS Genetic Test
- 1785HTRA2 Gene PARK13 Parkinson NGS Genetic Test
- 1786SNCA Gene PARK1 Parkinson NGS Genetic Test
- 1787VPS35 Gene PARK17 Parkinson NGS Genetic Test
- 1788UCHL1 Gene PARK5 Parkinson NGS Genetic Test
- 1790LRRK2 Gene PARK8 Parkinson NGS Genetic Test
- 1792GOSR2 Gene Progressive myoclonus epilepsy type 6 NGS Genetic Test
- 1793TANC1 Gene Psychomotor retardation NGS Genetic Test
- 1794ALDH7A1 Gene Pyridoxine-dependent epilepsy NGS Genetic Test
- 1795CLCN4 Gene Raynaud-Claes syndrome NGS Genetic Test
- 1796MECP2 Gene Rett syndrome preserved speech variant NGS Genetic Test
- 1799SRPX2 Gene Rolandic epilepsy, mental retardation, and speech dyspraxia NGS Genetic Test
- 1801PC Gene Pyruvate carboxylase deficiency NGS Genetic Test
- 1803KCTD7 Gene Progressive myoclonus epilepsy type 3 NGS Genetic Test
- 1804PMP22 Gene Roussy-Levy syndrome NGS Genetic Test
- 1805TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic Test
- 1806PQBP1 Gene Renpenning syndrome NGS Genetic Test
- 1808GRID2 Gene Schizophrenia, GRID2 related NGS Genetic Test
- 1809VPS37A Gene SPG53 NGS Genetic Test
- 1811USP8 Gene SPG59, USP8 related NGS Genetic Test
- 1812NIPA1 Gene SPG6 NGS Genetic Test
- 1814ARL6IP1 Gene SPG61 NGS Genetic Test
- 1816WDR48 Gene SPG60, WDR48 related NGS Genetic Test
- 1817CYP2U1 Gene SPG56 NGS Genetic Test
- 1820ERLIN1 Gene SPG62, ERLIN1 related NGS Genetic Test
- 1821AMPD2 Gene SPG63 NGS Genetic Test
- 1823DDHD2 Gene SPG54 NGS Genetic Test
- 1824REEP2 Gene SPG72 NGS Genetic Test
- 1826ZFR Gene SPG71, ZFR related NGS Genetic Test
- 1827CPT1C Gene SPG73 NGS Genetic Test
- 1829FLRT1 Gene SPG68, FLRT1 related NGS Genetic Test
- 1830MYOT Gene Spheroid body myopathy NGS Genetic Test
- 1832PRKCG Gene Spinocerebellar ataxia type 14, autosomal dominant NGS Genetic Test
- 1834TTBK2 Gene Spinocerebellar ataxia type 11, autosomal dominant NGS Genetic Test
- 1835FGF14 Gene Spinocerebellar ataxia type 27, autosomal dominant NGS Genetic Test
- 1836TBP Gene Spinocerebellar ataxia type 17, autosomal dominant NGS Genetic Test
- 1837ITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive NGS Genetic Test
- 1840WWOX Gene Spinocerebellar ataxia type 12, autosomal recessive NGS Genetic Test
- 1842KCNC3 Gene Spinocerebellar ataxia type 13, autosomal dominant NGS Genetic Test
- 1843PDYN Gene Spinocerebellar ataxia type 23, autosomal dominant NGS Genetic Test
- 1844ATXN3 Gene Spinocerebellar ataxia type 3, autosomal dominant NGS Genetic Test
- 1846Metabolic Disorders Wide Range Panel NGS Genetic Test
- 1850PEX14 Gene Zellweger syndrome NGS Genetic Test
- 1851PEX12 Gene Zellweger syndrome NGS Genetic Test
- 1854PEX16 Gene Zellweger syndrome NGS Genetic Test
- 1855MPS Enzyme Panel NGS Genetic Test
- 1856PEX6 Gene Zellweger syndrome NGS Genetic Test
- 1857PEX10 Gene Zellweger syndrome NGS Genetic Test
- 1858NCL Enzyme Panel NGS Genetic Test
- 1859PEX1 Gene Zellweger syndrome NGS Genetic Test
- 1860PEX26 Gene Zellweger syndrome NGS Genetic Test
- 1861Diabetes and obesity panel NGS Genetic Test
- 1863ACADS Gene Acyl-CoA short-chain dehydrogenase deficiency NGS Genetic Test
- 1864CAT Gene Acatalasemia NGS Genetic Test
- 1865ACADVL Gene Acyl-CoA very long-chain dehydrogenase deficiency NGS Genetic Test
- 1866ACACA Gene Acetyl-CoA carboxylase deficiency NGS Genetic Test
- 1867ALDH2 Gene Acute Alcohol sensitivity NGS Genetic Test
- 1868ACHE Gene Acetycholinesterase deficiency NGS Genetic Test
- 1869MTTP Gene Abetalipoproteinemia NGS Genetic Test
- 1870ETFB Gene Acyl-CoA multiple dehydrogenase deficiency NGS Genetic Test
- 1872ALAD Gene Acute hepatic porphyria NGS Genetic Test
- 1873SERAC1 Gene 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome NGS Genetic Test
- 1874ADSL Gene Adenylosuccinase deficiency NGS Genetic Test
- 1876APRT Gene Adenine phosphoribosyltransferase deficiency NGS Genetic Test
- 1877A2M Gene Alpha-2-macroglobulin deficiency NGS Genetic Test
- 1879POR Gene Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NGS Genetic Test
- 1880OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency NGS Genetic Test
- 1881ATIC Gene AICA-ribosiduria due to ATIC deficiency NGS Genetic Test
- 1882NR0B1 Gene Adrenal hypoplasia NGS Genetic Test
- 1883CYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency NGS Genetic Test
- 1884UPD chr. 6 Gene 6q24-related transient neonatal diabetes mellitus type 1 NGS Genetic Test
- 1885HGD Gene Alkaptonuria NGS Genetic Test
- 1886AMACR Gene Alpha-methylacyl CoA racemase deficiency NGS Genetic Test
- 1887APOA1 Gene Amyloidosis, familial visceral NGS Genetic Test
- 1889CDAN1 Gene Anemia dyserythropoietic type 1A NGS Genetic Test
- 1890SEC23B Gene Anemia dyserythropoietic type 2 NGS Genetic Test
- 1891ACY1 Gene Aminoacylase deficiency NGS Genetic Test
- 1892SERPINA1 Gene Antitrypsin-alpha-1 deficiency NGS Genetic Test
- 1894CPT1B Gene Carnitine palmitoyltransferase 1B deficiency NGS Genetic Test
- 1895CPS1 Gene Carbamoylphosphate synthetase I deficiency NGS Genetic Test
- 1896SCNN1A Gene Bronchiectasis with or without elevated sweat chloride type 2 NGS Genetic Test
- 1897BCHE Gene Butyrylcholinesterase deficiency NGS Genetic Test
- 1898BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency NGS Genetic Test
- 1899BTD Gene Biotinidase deficiency NGS Genetic Test
- 1900BLM Gene Bloom syndrome NGS Genetic Test
- 1901CPT1A Gene Carnitine palmitoyltransferase 1A deficiency NGS Genetic Test
- 1902SLC22A5 Gene Carnitine deficiency NGS Genetic Test
- 1903CPT2 Gene Carnitine palmitoyltransferase 2 deficiency, lethal neonatal NGS Genetic Test
- 1904BCAT2 Gene Branched-chain aminotransferase 2 deficiency NGS Genetic Test
- 1905SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency NGS Genetic Test
- 1906CPT2 Gene Carnitine palmitoyltransferase 2 deficiency, infantile NGS Genetic Test
- 1907CLN5 Gene Ceroid lipofuscinosis neuronal type 5 NGS Genetic Test
- 1908CLN8 Gene Ceroid lipofuscinosis neuronal type 8 NGS Genetic Test
- 1909MFSD8 Gene Ceroid lipofuscinosis neuronal type 7 NGS Genetic Test
- 1910CLN6 Gene Ceroid lipofuscinosis neuronal type 6 NGS Genetic Test
- 1911PPT1 Gene Ceroid lipofuscinosis neuronal type 1 NGS Genetic Test
- 1912MT-RNR2 Gene Chloramphenicol resistance, MT-RNR2 related NGS Genetic Test
- 1913DNAJC5 Gene Ceroid lipofuscinosis neuronal type 4 NGS Genetic Test
- 1914GRN Gene Ceroid lipofuscinosis neuronal type 11 NGS Genetic Test
- 1915ABHD5 Gene Chanarin-Dorfman syndrome NGS Genetic Test
- 1916TPP1 Gene Ceroid lipofuscinosis neuronal type 2 NGS Genetic Test
- 1917ABCB11 Gene Cholestasis benign recurrent intrahepatic type 2 NGS Genetic Test
- 1918ATP8B1 Gene Cholestasis progressive intrahepatic type 1 NGS Genetic Test
- 1920ABCB4 Gene Cholestasis intrahepatic, of pregnancy, type 3 NGS Genetic Test
- 1922CLN3 Gene Ceroid lipofuscinosis neuronal type 3 NGS Genetic Test
- 1923ATP8B1 Gene Cholestasis, benign recurrent intrahepatic NGS Genetic Test
- 1926ASS1 Gene Citrullinemia NGS Genetic Test
- 1928SAR1B Gene Chylomicron retention disease NGS Genetic Test
- 1929GFM1 Gene Combined oxidative phosphorylation deficiency type 1 NGS Genetic Test
- 1930RMND1 Gene Combined oxidative phosphorylation deficiency type 11 NGS Genetic Test
- 1931MTFMT Gene Combined oxidative phosphorylation deficiency type 15 NGS Genetic Test
- 1932VARS2 Gene Combined oxidative phosphorylation deficiency type 20 NGS Genetic Test
- 1933MRPS16 Gene Combined oxidative phosphorylation deficiency type 2 NGS Genetic Test
- 1934LYRM4 Gene Combined oxidative phosphorylation deficiency type 19 NGS Genetic Test
- 1935PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 NGS Genetic Test
- 1936FARS2 Gene Combined oxidative phosphorylation deficiency type 14 NGS Genetic Test
- 1937EARS2 Gene Combined oxidative phosphorylation deficiency type 12 NGS Genetic Test
- 1938ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic Test
- 1940MARS2 Gene Combined oxidative phosphorylation deficiency type 25 NGS Genetic Test
- 1941MTO1 Gene Combined oxidative phosphorylation deficiency type 10 NGS Genetic Test
- 1942TUFM Gene Combined oxidative phosphorylation deficiency type 4 NGS Genetic Test
- 1943SFXN4 Gene Combined oxidative phosphorylation deficiency type 18 NGS Genetic Test
- 1945TSFM Gene Combined oxidative phosphorylation deficiency type 3 NGS Genetic Test
- 1946NARS2 Gene Combined oxidative phosphorylation deficiency type 24 NGS Genetic Test
- 1949MRPL3 Gene Combined oxidative phosphorylation deficiency type 9 NGS Genetic Test
- 1950ALG11 Gene Congenital disorder of glycosylation, type Ip NGS Genetic Test
- 1951SRD5A3 Gene Congenital disorder of glycosylation, type Iq NGS Genetic Test
- 1952STT3A Gene Congenital disorder of glycosylation, type Iw NGS Genetic Test
- 1954VKORC1 Gene Coumarin resistance NGS Genetic Test
- 1955CR1 Gene CR1 deficiency NGS Genetic Test
- 1956CYP2C9 Gene Coumarin/Warfarin resistance due to CYP2C9 variants NGS Genetic Test
- 1957SLC6A8 Gene Creatine deficiency syndrome X-linked NGS Genetic Test
- 1958D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 NGS Genetic Test
- 1959CYP2C19 Gene CYP2C19 related poor drug metabolism NGS Genetic Test
- 1960CYP1A2 Gene Cytochrome P450 deficiency NGS Genetic Test
- 1961LPA Gene Coronary artery disease, susceptibility to NGS Genetic Test
- 1964SLC6A14 Gene Cystic fibrosis, SLC6A14 related NGS Genetic Test
- 1965HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test
- 1966IGF2 Gene Diabetes, IGF2 related NGS Genetic Test
- 1969NEUROG3 Gene Diarrhea type 4, malabsorptive, congenital NGS Genetic Test
- 1970ABCC8 Gene Diabetes mellitus, transient neonatal type 2 NGS Genetic Test
- 1971SPINT2 Gene Diarrhea type 3, secretory sodium, congenital, syndromic NGS Genetic Test
- 1972DPYD Gene Dihydropyrimidine dehydrogenase deficiency NGS Genetic Test
- 1974F5 Gene Factor V deficiency NGS Genetic Test
- 1976GLA Gene Fabry disease NGS Genetic Test
- 1977SLC16A1 Gene Erythrocyte lactate transporter defect NGS Genetic Test
- 1978DPYS Gene Dihydropyrimidinuria NGS Genetic Test
- 1979FANCE Gene Fanconi anemia type E NGS Genetic Test
- 1981FANCC Gene Fanconi anemia type C NGS Genetic Test
- 1982FANCL Gene Fanconi anemia type L NGS Genetic Test
- 1983BRIP1 Gene Fanconi anemia type J NGS Genetic Test
- 1984FANCB Gene Fanconi anemia type B NGS Genetic Test
- 1985FANCG Gene Fanconi anemia type G NGS Genetic Test
- 1987FANCM Gene Fanconi anemia type M NGS Genetic Test
- 1988SLC2A5 Gene Fructose uptake deficiency, SLC2A5 related NGS Genetic Test
- 1989XRCC2 Gene Fanconi anemia, XRCCR2 related NGS Genetic Test
- 1990ASAH1 Gene Farber disease NGS Genetic Test
- 1991SLX4 Gene Fanconi anemia type P NGS Genetic Test
- 1993G6PD Gene Favism, susceptibility to NGS Genetic Test
- 1994ALDOB Gene Fructose intolerance NGS Genetic Test
- 1995FH Gene Fumarase deficiency NGS Genetic Test
- 1996FUCA1 Gene Fucosidosis NGS Genetic Test
- 1997FBP1 Gene Fructose-1,6-bisphosphatase deficiency NGS Genetic Test
- 1999ABAT Gene GABA-transaminase deficiency NGS Genetic Test
- 2000GALT Gene Galactosemia NGS Genetic Test
- 2002GBA Gene Gaucher disease type 3 NGS Genetic Test
- 2003CTSA Gene Galactosialidosis NGS Genetic Test
- 2005SLC5A1 Gene Glucose/Galactose malabsorption NGS Genetic Test
- 2006MRAP Gene Glucocorticoid deficiency type 2 NGS Genetic Test
- 2007GBA Gene Gaucher disease type 2 NGS Genetic Test
- 2008MC2R Gene Glucocorticoid deficiency type 1 NGS Genetic Test
- 2009NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test
- 2010GALK1 Gene Galactokinase deficiency NGS Genetic Test
- 2012GLUL Gene Glutamine deficiency, congenital NGS Genetic Test
- 2013GBA Gene Gaucher disease type 3C NGS Genetic Test
- 2014FTCD Gene Glutamate formiminotransferase deficiency NGS Genetic Test
- 2016PGAM2 Gene Glycogen storage disease type 10 NGS Genetic Test
- 2017PRKAG2 Gene Glycogen storage disease of heart (lethal) NGS Genetic Test
- 2018ALDOA Gene Glycogen storage disease type 12 NGS Genetic Test
- 2019LDHA Gene Glycogen storage disease type 11 NGS Genetic Test
- 2020GYS1 Gene Glycogen storage disease type 0 muscle NGS Genetic Test
- 2021GYS2 Gene Glycogen storage disease type 0 NGS Genetic Test
- 2023GSTT1 Gene Glutathione S-transferase theta-1 defficiency NGS Genetic Test
- 2024PGM1 Gene Glycogen storage disease type 14 NGS Genetic Test
- 2025GBE1 Gene Glycogen storage disease type 4 NGS Genetic Test
- 2027AGL Gene Glycogen storage disease type 3 NGS Genetic Test
- 2028PHKA2 Gene Glycogen storage disease type 9A NGS Genetic Test
- 2029PHKB Gene Glycogen storage disease type 9B NGS Genetic Test
- 2030ENO3 Gene Glycogen storage disease type 13 NGS Genetic Test
- 2031GAA Gene Glycogen storage disease type 2 NGS Genetic Test
- 2032PYGM Gene Glycogen storage disease type 5 NGS Genetic Test
- 2033PYGL Gene Glycogen storage disease type 6B NGS Genetic Test
- 2034MPI Gene Glycosylation disorder type 1B NGS Genetic Test
- 2035PHKG2 Gene Glycogen storage disease type 9C NGS Genetic Test
- 2036PMM2 Gene Glycosylation disorder type 1A NGS Genetic Test
- 2037ALG3 Gene Glycosylation disorder type 1D NGS Genetic Test
- 2038DPM1 Gene Glycosylation disorder type 1E NGS Genetic Test
- 2041DPAGT1 Gene Glycosylation disorder type 1J NGS Genetic Test
- 2042ALG1 Gene Glycosylation disorder type 1K NGS Genetic Test
- 2044DPM2 Gene Glycosylation disorder type 1U NGS Genetic Test
- 2045RFT1 Gene Glycosylation disorder type 1N NGS Genetic Test
- 2046ALG2 Gene Glycosylation disorder type 1I NGS Genetic Test
- 2047ALG9 Gene Glycosylation disorder type 1L NGS Genetic Test
- 2048DPM3 Gene Glycosylation disorder type 1O NGS Genetic Test
- 2049COG7 Gene Glycosylation disorder type 2E NGS Genetic Test
- 2050MOGS Gene Glycosylation disorder type 2B NGS Genetic Test
- 2051SLC35C1 Gene Glycosylation disorder type 2C NGS Genetic Test
- 2052ALG13 Gene Glycosylation disorder type 1S NGS Genetic Test
- 2053SLC35A2 Gene Glycosylation disorder type 2M NGS Genetic Test
- 2054MGAT2 Gene Glycosylation disorder type 2A NGS Genetic Test
- 2055COG6 Gene Glycosylation disorder type 3 NGS Genetic Test
- 2056COG5 Gene Glycosylation disorder type 2I NGS Genetic Test
- 2058B4GALT1 Gene Glycosylation disorder type 2D NGS Genetic Test
- 2059COG4 Gene Glycosylation disorder type 2J NGS Genetic Test
- 2060HEXB Gene GM2-gangliosidosis type 2 NGS Genetic Test
- 2061GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic Test
- 2062SSR4 Gene Glycosylation disorder x-linked NGS Genetic Test
- 2063GLB1 Gene GM1-gangliosidosis type 2 NGS Genetic Test
- 2064HPD Gene Hawkinsinuria NGS Genetic Test
- 2065SLC6A19 Gene Hartnup disorder NGS Genetic Test
- 2066ABCA1 Gene HDL deficiency, type 2 NGS Genetic Test
- 2067TFR2 Gene Hemochromatosis type 3 NGS Genetic Test
- 2068HJV Gene Hemochromatosis type 2A NGS Genetic Test
- 2069GAMT Gene Guanidinoacetate methyltransferase deficiency NGS Genetic Test
- 2070DDOST Gene Glycosylation disorder type IR NGS Genetic Test
- 2071CETP Gene High density lipoprotein cholesterol level QTL 10 NGS Genetic Test
- 2072IDUA Gene Hurler syndrome NGS Genetic Test
- 2074F8 Gene Hemophilia A NGS Genetic Test
- 2075IDUA Gene Hurler-Scheie syndrome NGS Genetic Test
- 2076HLCS Gene Holocarboxylase synthetase deficiency NGS Genetic Test
- 2077ABCC8 Gene Hyperinsulinemic hypoglycemia type 1 NGS Genetic Test
- 2079G6PC2 Gene Hyperinsulinaemia, association with, G6PC2 related NGS Genetic Test
- 2080LDLR Gene Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant NGS Genetic Test
- 2081APOB Gene Hypercholesterolemia type B autosomanl dominant NGS Genetic Test
- 2083ITIH4 Gene Hypercholesterolemia, susceptibility to NGS Genetic Test
- 2084PPP1R17 Gene Hypercholesterolemia, susceptibility to NGS Genetic Test
- 2085APOA5 Gene Hyperchylomicronemia type 5 NGS Genetic Test
- 2086GCK Gene Hyperinsulinemic hypoglycemia type 3 NGS Genetic Test
- 2087GLUD1 Gene Hyperinsulinemic hypoglycemia type 6 NGS Genetic Test
- 2089USF1 Gene Hyperlipidemia, familial combined, susceptibility to NGS Genetic Test
- 2090UCP2 Gene Hyperinsulinism, UCP2 related NGS Genetic Test
- 2092SLC16A1 Gene Hyperinsulinemic hypoglycemia type 7 NGS Genetic Test
- 2093AASS Gene Hyperlysinemia type 1 NGS Genetic Test
- 2095GRHPR Gene Hyperoxaluria type 2 NGS Genetic Test
- 2096SLC25A15 Gene Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome NGS Genetic Test
- 2097ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test
- 2098SLC30A10 Gene Hypermanganesemia with dystonia, polycythemia and cirrhosis NGS Genetic Test
- 2099QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic Test
- 2100SLC26A6 Gene Hyperoxaluria, SLC26A6 related NGS Genetic Test
- 2101PRODH Gene Hyperprolinemia type 1 NGS Genetic Test
- 2102LIPI Gene Hypertriglyceridemia, susceptibility to NGS Genetic Test
- 2103CYP11B2 Gene Hypoaldosteronism, congenital, due to CMO II deficiency NGS Genetic Test
- 2104ALDH4A1 Gene Hyperprolinemia type 2 NGS Genetic Test
- 2105SARS2 Gene Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis NGS Genetic Test
- 2107AGXT Gene Hyperoxaluria type 1 NGS Genetic Test
- 2108TRPM6 Gene Hypomagnesemia type 1 NGS Genetic Test
- 2109CLDN16 Gene Hypomagnesemia type 3 NGS Genetic Test
- 2110AKT2 Gene Hypoinsulinemic hypoglycemia with hemihypertrophy NGS Genetic Test
- 2111FXYD2 Gene Hypomagnesemia type 2 NGS Genetic Test
- 2112ABCC8 Gene Hypoglycemia of infancy, leucine-sensitive NGS Genetic Test
- 2113EGF Gene Hypomagnesemia type 4 NGS Genetic Test
- 2114CYP11B2 Gene Hypoaldosteronism congenital due to CMO I deficiency NGS Genetic Test
- 2115APOA1 Gene Hypoalphalipoproteinemia NGS Genetic Test
- 2116CNNM2 Gene Hypomagnesemia type 6 NGS Genetic Test
- 2117CLDN19 Gene Hypomagnesemia type 5 NGS Genetic Test
- 2118ALPL Gene Hypophosphatasia, adult NGS Genetic Test
- 2120SLC22A12 Gene Hypouricemia, renal type 1 NGS Genetic Test
- 2121LCT Gene Lactase deficiency, congenital NGS Genetic Test
- 2123LDHB Gene Lactate dehydrogenase-B deficiency NGS Genetic Test
- 2124LCAT Gene LCAT DEFICIENCY NGS Genetic Test
- 2125PDHX Gene Lacticacidemia due to PDX1 deficiency NGS Genetic Test
- 2128CAVIN1 Gene Lipodystrophy generalized type 4 NGS Genetic Test
- 2129BSCL2 Gene Lipodystrophy generalized type 2 NGS Genetic Test
- 2130LMNA Gene Lipodystrophy type 2, familial partial NGS Genetic Test
- 2131PPARG Gene Lipodystrophy, familial partial, type 3 NGS Genetic Test
- 2132MANBAL Gene Mannosidosis, beta A, lysosomal-like NGS Genetic Test
- 2134MANBA Gene Mannosidosis-beta NGS Genetic Test
- 2135MLYCD Gene Malonyl-CoA decarboxylase deficiency NGS Genetic Test
- 2136ABHD1 Gene Lung alpha-beta hydrolase deficiency type 1 NGS Genetic Test
- 2137MAN2B1 Gene Mannosidosis-alpha NGS Genetic Test
- 2138BCKDHA Gene Maple syrup urine disease type 1a NGS Genetic Test
- 2140LPA Gene LPA deficiency, congenital NGS Genetic Test
- 2142BCKDHB Gene Maple syrup urine disease type 1b NGS Genetic Test
- 2143ACP2 Gene Lysosomal acid phosphatase deficiency NGS Genetic Test
- 2144HNF4A Gene Maturity-onset diabetes of the young type 1 NGS Genetic Test
- 2145GCK Gene Maturity-onset diabetes of the young type 2 NGS Genetic Test
- 2146NKX2-2 Gene Maturity-onset diabetes of the young, NKX2-2 related NGS Genetic Test
- 2147PAX4 Gene Maturity-onset diabetes of the young type 9 NGS Genetic Test
- 2148PPM1K Gene Maple syrup urine disease, mild variant NGS Genetic Test
- 2149PDX1 Gene Maturity-onset diabetes of the young type 4 NGS Genetic Test
- 2152BLK Gene Maturity-onset diabetes of the young type 11 NGS Genetic Test
- 2153NEUROD1 Gene Maturity-onset diabetes of the young type 6 NGS Genetic Test
- 2154KLF11 Gene Maturity-onset diabetes of the young type 7 NGS Genetic Test
- 2155MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic Test
- 2156HNF1B Gene Maturity-onset diabetes of the young type 5 NGS Genetic Test
- 2157ALDH6A1 Gene Methylmalonate semialdehyde dehydrogenase deficiency NGS Genetic Test
- 2158ACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test
- 2159RFX6 Gene Maturity-onset diabetes of the young, RFX6 related NGS Genetic Test
- 2160MTR Gene Methylcobalamin deficiency CblG type NGS Genetic Test
- 2161MEFV Gene Mediterranean fever NGS Genetic Test
- 2162MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test
- 2163MMADHC Gene Methylmalonic aciduria CblD type NGS Genetic Test
- 2164VEGFA Gene Microvascular complications of diabetes type 1 NGS Genetic Test
- 2166CD320 Gene Methylmalonic aciduria CblR type NGS Genetic Test
- 2168MMAB Gene Methylmalonic aciduria CblB type NGS Genetic Test
- 2170MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NGS Genetic Test
- 2171SOD2 Gene Microvascular complications of diabetes type 6, susceptibility to NGS Genetic Test
- 2172ABCD4 Gene Methylmalonic aciduria CblJ type NGS Genetic Test
- 2173UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test
- 2174SAMD9 Gene Mirage syndrome NGS Genetic Test
- 2175GPHN Gene Molybdenum cofactor deficiency type C NGS Genetic Test
- 2176MOCS2 Gene Molybdenum cofactor deficiency type B NGS Genetic Test
- 2178MOCS1 Gene Molybdenum cofactor deficiency type A NGS Genetic Test
- 2180SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic Test
- 2181GNS Gene Mucopolysaccharidosis type 3D NGS Genetic Test
- 2182MCOLN1 Gene Mucolipidosis type 4 NGS Genetic Test
- 2183NAGLU Gene Mucopolysaccharidosis type 3B NGS Genetic Test
- 2184SGSH Gene Mucopolysaccharidosis type 3A NGS Genetic Test
- 2185IDUA Gene Mucopolysaccharidosis type 1H NGS Genetic Test
- 2186RFX6 Gene Mitchell-Riley syndrome NGS Genetic Test
- 2187GALNS Gene Mucopolysaccharidosis type 4A NGS Genetic Test
- 2188PHKA1 Gene Muscle glycogenosis NGS Genetic Test
- 2189GLB1 Gene Mucopolysaccharidosis type 4B NGS Genetic Test
- 2190HYAL1 Gene Mucopolysaccharidosis type 9 NGS Genetic Test
- 2191ALPL Gene Odontohypophosphatasia NGS Genetic Test
- 2193NPC2 Gene Niemann-Pick disease type C2 NGS Genetic Test
- 2194NEU1 Gene Neuraminidase deficiency NGS Genetic Test
- 2195NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test
- 2196OTC Gene Ornithine transcarbamoylase deficiency NGS Genetic Test
- 2198SMPD1 Gene Niemann-Pick disease type A/B NGS Genetic Test
- 2199GUSB Gene Mucopolysaccharidosis type 7 NGS Genetic Test
- 2200ARSB Gene Mucopolysaccharidosis type 6 NGS Genetic Test
- 2201DCXR Gene Pentosuria NGS Genetic Test
- 2203TNFRSF1A Gene Periodic fever autosomal dominant NGS Genetic Test
- 2204PTF1A Gene Pancreatic agenesis type 2 NGS Genetic Test
- 2205PAH Gene Phenylketonuria NGS Genetic Test
- 2207PSPH Gene Phosphoserine phosphatase deficiency NGS Genetic Test
- 2210PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test
- 2211GPR161 Gene Pituitary stalk interruption syndrome, GPR161 related NGS Genetic Test
- 2212GAA Gene Pompe disease NGS Genetic Test
- 2213PSAT1 Gene Phosphoserine aminotransferase deficiency NGS Genetic Test
- 2214HMBS Gene Porphyria acute intermittent NGS Genetic Test
- 2215UROS Gene Porphyria congenital erythropoietic NGS Genetic Test
- 2216PEPD Gene Prolidase deficiency NGS Genetic Test
- 2217PPOX Gene Porphyria variegata NGS Genetic Test
- 2219PCCA Gene Propionic acidemia NGS Genetic Test
- 2220PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency, cytosolic NGS Genetic Test
- 2221PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency NGS Genetic Test
- 2222PCCB Gene Propionic acidemia NGS Genetic Test
- 2223HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic Test
- 2224PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic Test
- 2225ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic Test
- 2226PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic Test
- 2227PDHB Gene Pyruvate dehydrogenase E1-beta deficiency NGS Genetic Test
- 2228DLAT Gene Pyruvate dehydrogenase E2 deficiency NGS Genetic Test
- 2229LIAS Gene Pyruvate dehydrogenase lipoic acid synthetase deficiency NGS Genetic Test
- 2230PC Gene Pyruvate carboxylase deficiency NGS Genetic Test
- 2231PEX7 Gene Refsum disease NGS Genetic Test
- 2232PHYH Gene Refsum disease NGS Genetic Test
- 2233PDP1 Gene Pyruvate dehydrogenase phosphatase deficiency NGS Genetic Test
- 2234RPIA Gene Ribose 5-phosphate isomerase deficiency NGS Genetic Test
- 2238CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic Test
- 2240IDUA Gene Scheie syndrome NGS Genetic Test
- 2242SARDH Gene Sarcosinemia NGS Genetic Test
- 2244ALDH5A1 Gene Succinic semialdehyde dehydrogenase deficiency NGS Genetic Test
- 2245OXCT1 Gene Succinyl CoA:3-oxoacid CoA transferase deficiency NGS Genetic Test
- 2247SI Gene Sucrase-isomaltase deficiency NGS Genetic Test
- 2248SFTPD Gene Surfactant metabolism dysfunction NGS Genetic Test
- 2251CSF2RA Gene Surfactant metabolism dysfunction type 4 NGS Genetic Test
- 2253AASS Gene Saccharopinuria NGS Genetic Test
- 2255CSF2RB Gene Surfactant metabolism dysfunction type 5 NGS Genetic Test
- 2256ABCA1 Gene Tangier disease NGS Genetic Test
- 2257TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic Test
- 2260TJP1 Gene TJP1 deficiency NGS Genetic Test
- 2262TYK2 Gene Tyrosine kinase 2 deficiency NGS Genetic Test
- 2263FMO3 Gene Trimethylaminuria NGS Genetic Test
- 2265TALDO1 Gene Transaldolase deficiency NGS Genetic Test
- 2267TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test
- 2268HPD Gene Tyrosinemia type 3 NGS Genetic Test
- 2270GSTZ1 Gene Tyrosinemia type 1B NGS Genetic Test
- 2271ECM1 Gene Urbach-Wiethe disease NGS Genetic Test
- 2272TPMT Gene TPMT deficiency NGS Genetic Test
- 2273G6PC Gene Von-Gierke disease NGS Genetic Test
- 2274ATP7B Gene Wilson disease NGS Genetic Test
- 2275GALNT3 Gene Tumoral calcinosis, hyperphosphatemic, familial, type 1 NGS Genetic Test
- 2277XDH Gene Xanthinuria type 1 NGS Genetic Test
- 2278LIPA Gene Wolman disease NGS Genetic Test
- 2279COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test
- 2280MOCOS Gene Xanthinuria type 2 NGS Genetic Test
- 2281Comprehensive Ear Nose Throat Panel NGS Genetic Test
- 2282COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test
- 2283PLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic Test
- 2284EYA1 Gene Branchiootic syndrome type 1 NGS Genetic Test
- 2286PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test
- 2287DIAPH3 Gene Auditory neuropathy, autosomal dominant NGS Genetic Test
- 2288SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic Test
- 2289DIAPH1 Gene Deafness, autosomal dominant type 1 NGS Genetic Test
- 2290IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
- 2293POU4F3 Gene Deafness, autosomal dominant type 15 NGS Genetic Test
- 2294COL11A2 Gene Deafness, autosomal dominant type 13 NGS Genetic Test
- 2295GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic Test
- 2296MYH9 Gene Deafness, autosomal dominant type 17 NGS Genetic Test
- 2298TECTA Gene Deafness, autosomal dominant type 12 NGS Genetic Test
- 2299ACTG1 Gene Deafness, autosomal dominant type 20 NGS Genetic Test
- 2300SIX1 Gene Deafness, autosomal dominant type 23 NGS Genetic Test
- 2301MYO6 Gene Deafness, autosomal dominant type 22 NGS Genetic Test
- 2302KCNQ4 Gene Deafness, autosomal dominant type 2A NGS Genetic Test
- 2303GJB6 Gene Deafness, autosomal dominant type 3B NGS Genetic Test
- 2304GRHL2 Gene Deafness, autosomal dominant type 28 NGS Genetic Test
- 2305CRYM Gene Deafness, autosomal dominant type 40 NGS Genetic Test
- 2306GJB3 Gene Deafness, autosomal dominant type 2B NGS Genetic Test
- 2307CCDC50 Gene Deafness, autosomal dominant type 44 NGS Genetic Test
- 2308MYH14 Gene Deafness, autosomal dominant type 4 NGS Genetic Test
- 2309TMC1 Gene Deafness, autosomal dominant type 36 NGS Genetic Test
- 2310SLC17A8 Gene Deafness, autosomal dominant type 25 NGS Genetic Test
- 2311MYO1A Gene Deafness, autosomal dominant type 48 NGS Genetic Test
- 2313GSDME Gene Deafness, autosomal dominant type 5 NGS Genetic Test
- 2314DSPP Gene Deafness, autosomal dominant type 39, with dentinogenesis type 1 NGS Genetic Test
- 2315TBC1D24 Gene Deafness, autosomal dominant type 65 NGS Genetic Test
- 2317GJB3 Gene Deafness, autosomal recessive NGS Genetic Test
- 2318GJB2 Gene Deafness, autosomal dominant type 3A NGS Genetic Test
- 2319WFS1 Gene Deafness, autosomal dominant type 6 NGS Genetic Test
- 2320CDH23 Gene Deafness, autosomal recessive type 12 NGS Genetic Test
- 2321POU4F3 Gene Deafness, autosomal dominant type 52 NGS Genetic Test
- 2323SUN1 Gene Deafness, autosomal recessive NGS Genetic Test
- 2324GJB2 Gene Deafness, autosomal recessive type 1A NGS Genetic Test
- 2325COCH Gene Deafness, autosomal dominant type 9 NGS Genetic Test
- 2326GJB6 Gene Deafness, autosomal recessive type 1B NGS Genetic Test
- 2327OTOA Gene Deafness, autosomal recessive type 22 NGS Genetic Test
- 2329MYO7A Gene Deafness, autosomal recessive type 2 NGS Genetic Test
- 2332PCDH15 Gene Deafness, autosomal recessive type 23 NGS Genetic Test
- 2333USH1C Gene Deafness, autosomal recessive type 18 NGS Genetic Test
- 2334STRC Gene Deafness, autosomal recessive type 16 NGS Genetic Test
- 2335MYO15A Gene Deafness, autosomal recessive type 3 NGS Genetic Test
- 2336CLDN14 Gene Deafness, autosomal recessive type 29 NGS Genetic Test
- 2338WHRN Gene Deafness, autosomal recessive type 31 NGS Genetic Test
- 2339ESRRB Gene Deafness, autosomal recessive type 35 NGS Genetic Test
- 2340GJB2 Gene Knuckle pads and leukonychia sensorineural deafness NGS Genetic Test
- 2341MYH7B Gene Hearing loss, MYH7B related NGS Genetic Test
- 2342FLNA Gene Otopaladigital syndrome type 2 NGS Genetic Test
- 2343GJB2 Gene Keratitis ichthyosis deafness syndrome autosomal dominant NGS Genetic Test
- 2344FLNA Gene Otopaladigital syndrome type 1 NGS Genetic Test
- 2346SLC26A4 Gene Pendred syndrome NGS Genetic Test
- 2348GJB2 Gene Keratoderma, palmoplantar, with deafness NGS Genetic Test
- 2349MAP1A Gene Hearing loss, MAP1A related NGS Genetic Test
- 2350PEX1 Gene Heimler syndrome type 1 NGS Genetic Test
- 2351SLC52A3 Gene Fazio-Londe disease NGS Genetic Test
- 2352TRMU Gene Mitochondrial modifier of deafness NGS Genetic Test
- 2353COL4A6 Gene Deafness, X-linked type 6 NGS Genetic Test
- 2354WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test
- 2355FLNB Gene Atelosteogenesis type 3 NGS Genetic Test
- 2356MYH8 Gene Arthrogryposis, distal, type 7 NGS Genetic Test
- 2357VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic Test
- 2359HR Gene Atrichia with papular lesions NGS Genetic Test
- 2360SLC35A3 Gene Arthrogryposis, mental retardation, and seizures NGS Genetic Test
- 2361PIEZO2 Gene Arthrogryposis, distal, type 5 NGS Genetic Test
- 2362FLNB Gene Atelosteogenesis type 1 NGS Genetic Test
- 2363PIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic Test
- 2364IL12RB1 Gene Atypical Mycobacterial infection NGS Genetic Test
- 2365IFNGR2 Gene Atypical Mycobacterial infection NGS Genetic Test
- 2366ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic Test
- 2367STAT1 Gene Atypical Mycobacterial infection NGS Genetic Test
- 2368VPS33B Gene Arthrogryposis, renal dysfunction, and cholestasis type 1 NGS Genetic Test
- 2369IL12RB2 Gene Atypical Mycobacterial infection, IL12RB2 related NGS Genetic Test
- 2373CASP8 Gene Autoimmune lymphoproliferative syndrome type 2B NGS Genetic Test
- 2374EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test
- 2376IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
- 2377RUNX2 Gene Cleidocranial dysplasia NGS Genetic Test
- 2378EXT1 Gene Chondrosarcoma, familial NGS Genetic Test
- 2380NLRP12 Gene Cold autoinflammatory syndrome type 2 NGS Genetic Test
- 2381PTPN14 Gene Choanal atresia and lymphedema NGS Genetic Test
- 2382ARSE Gene Chondrodysplasia punctata, X-linked recessive NGS Genetic Test
- 2383ANKH Gene Chondrocalcinosis type 2 NGS Genetic Test
- 2384ENPP1 Gene Cole disease NGS Genetic Test
- 2386RAG2 Gene Combined cellular and humoral immune defects with granulomas NGS Genetic Test
- 2388KRT14 Gene Epidermolysis bullosa simplex, autosomal recessive type 1 NGS Genetic Test
- 2389MMP1 Gene Epidermolysis bullosa dystrophica, autosomal recessive, modifier of NGS Genetic Test
- 2390COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test
- 2391KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test
- 2392LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test
- 2393ITGA6 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test
- 2394PLEC Gene Epidermolysis bullosa simplex, Ogna type NGS Genetic Test
- 2395DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic Test
- 2396LAMC2 Gene Epidermolysis bullosa, junctional NGS Genetic Test
- 2397KRT14 Gene Epidermolysis bullosa simplex, Koebner type NGS Genetic Test
- 2398COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic Test
- 2399KRT5 Gene Epidermolysis bullosa simplex NGS Genetic Test
- 2400KRT14 Gene Epidermolysis bullosa simplex, Weber-Cockayne type NGS Genetic Test
- 2401ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test
- 2403LAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic Test
- 2407DSP Gene Epidermolysis bullosa, lethal acantholytic NGS Genetic Test
- 2411COL9A3 Gene Epiphyseal dysplasia, multiple, type 3 NGS Genetic Test
- 2412KRT1 Gene Epidermolytic hyperkeratosis NGS Genetic Test
- 2414STS Gene Ichthyosis, X-linked NGS Genetic Test
- 2415ELOVL4 Gene Ichthyosis, spastic quadriplegia, and mental retardation NGS Genetic Test
- 2418ALOX12B Gene Ichthyosis, congenital, autosomal recessive, type 2 NGS Genetic Test
- 2419LIPN Gene Ichthyosis, lamellar type 4 NGS Genetic Test
- 2420LAMTOR2 Gene Immunodeficiency due to defect in MAPBP-interacting protein NGS Genetic Test
- 2421CLDN1 Gene Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis NGS Genetic Test
- 2422CD81 Gene Immunodeficiency common variable type 6 NGS Genetic Test
- 2423LRBA Gene Immunodeficiency common variable type 8 NGS Genetic Test
- 2424ICOS Gene Immunodeficiency common variable type 1 NGS Genetic Test
- 2425CD19 Gene Immunodeficiency common variable type 3 NGS Genetic Test
- 2426TNFRSF13C Gene Immunodeficiency common variable type 4 NGS Genetic Test
- 2427TNFRSF13B Gene Immunodeficiency common variable type 2 NGS Genetic Test
- 2428LPIN2 Gene Majeed syndrome NGS Genetic Test
- 2430FCGR2B Gene Malaria, resistance to NGS Genetic Test
- 2431GJC2 Gene Lymphedema, hereditary, type IC NGS Genetic Test
- 2432FLT4 Gene Lymphedema, hereditary, type 1A NGS Genetic Test
- 2434CD27 Gene Lymphoproliferative syndrome type 2 NGS Genetic Test
- 2435SLURP1 Gene Mal de Meleda NGS Genetic Test
- 2436GUCY2C Gene Meconium ileus NGS Genetic Test
- 2437ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic Test
- 2438TGFBR1 Gene Marfan syndrome, TGFBR1 related NGS Genetic Test
- 2441ICAM1 Gene Malaria, cerebral, susceptibility to NGS Genetic Test
- 2442SMAD3 Gene Loeys-Dietz syndrome type 1C NGS Genetic Test
- 2446IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic Test
- 2450OSTM1 Gene Osteopetrosis, autosomal recessive type 5 NGS Genetic Test
- 2451CA2 Gene Osteopetrosis, autosomal recessive type 3 NGS Genetic Test
- 2452AMER1 Gene Osteopathia striata with cranial sclerosis NGS Genetic Test
- 2454TCIRG1 Gene Osteopetrosis, autosomal recessive type 1 NGS Genetic Test
- 2457PLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic Test
- 2459CRTAP Gene Osteogenesis imperfecta type 7 NGS Genetic Test
- 2460TNFRSF11A Gene Osteolysis, familial expansile NGS Genetic Test
- 2462PLOD2 Gene Osteogenesis imperfecta with congenital joint contractures NGS Genetic Test
- 2465DCLRE1C Gene Severe combined immunodeficiency, Athabascan type NGS Genetic Test
- 2468ADA Gene Severe combined immunodeficiency due to ADA deficiency NGS Genetic Test
- 2469ADAM10 Gene Reticulate acropigmentation of Kitamura NGS Genetic Test
- 2470IL2 Gene Severe combined immunodeficiency due to IL2 deficiency NGS Genetic Test
- 2471ZAP70 Gene Selective T-cell defect NGS Genetic Test
- 2472CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic Test
- 2473NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NGS Genetic Test
- 2474RAG1 Gene Severe combined immunodeficiency, B cell-negative NGS Genetic Test
- 2475CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic Test
- 2476AK2 Gene Reticular dysgenesis NGS Genetic Test
- 2477NOD2 Gene Sarcoidosis, early-onset NGS Genetic Test
- 2479SLC24A4 Gene Skin hair eye pigmentation type 6 NGS Genetic Test
- 2482DYM Gene Smith-McCort dysplasia NGS Genetic Test
- 2485RYR2 Gene Arrhythmogenic right ventricular dysplasia type 2 NGS Genetic Test
- 2486DSC2 Gene Arrhythmogenic right ventricular cardiomyopathy type 11 NGS Genetic Test
- 2487DSG2 Gene Arrhythmogenic right ventricular cardiomyopathy type 10 NGS Genetic Test
- 2490ABCC9 Gene Atrial fibrillation type 12 NGS Genetic Test
- 2494Cardiology Panel NGS Genetic Test
- 2496TGFB3 Gene Arrhythmogenic right ventricular cardiomyopathy type 1 NGS Genetic Test
- 2498PKP2 Gene Arrhythmogenic right ventricular cardiomyopathy type 9 NGS Genetic Test
- 2499JUP Gene Arrhythmogenic right ventricular cardiomyopathy type 12 NGS Genetic Test
- 2500KCNE2 Gene Atrial fibrillation type 4 NGS Genetic Test
- 2501NPPA Gene Atrial fibrillation type 6 NGS Genetic Test
- 2502KCNA5 Gene Atrial fibrillation type 7 NGS Genetic Test
- 2503KCNQ1 Gene Atrial fibrillation type 3 NGS Genetic Test
- 2505MYH6 Gene Atrial septal defect type 3 NGS Genetic Test
- 2506CNOT3 Gene Cardiac defects, CNOT3 related NGS Genetic Test
- 2507BRAF Gene Cardiofaciocutaneous syndrome NGS Genetic Test
- 2509SLMAP Gene Brugada syndrome type 9 NGS Genetic Test
- 2511KRAS Gene Cardiofaciocutaneous syndrome NGS Genetic Test
- 2512MAP2K1 Gene Cardiofaciocutaneous syndrome type 3 NGS Genetic Test
- 2513SCO2 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency NGS Genetic Test
- 2514COX15 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 2 NGS Genetic Test
- 2516TNNI3 Gene Cardiomyopathy, dilated type 2A NGS Genetic Test
- 2517CAV3 Gene Cardiomyopathy, familial hypertrophic NGS Genetic Test
- 2518ACTC1 Gene Cardiomyopathy, familial hypertrophic type 11 NGS Genetic Test
- 2519MYL2 Gene Cardiomyopathy, familial hypertrophic type 10 NGS Genetic Test
- 2522DMD Gene Cardiomyopathy, dilated type 3B NGS Genetic Test
- 2523DNAJC19 Gene Cardiomyopathy, dilated with ataxia NGS Genetic Test
- 2524TNNT2 Gene Cardiomyopathy, familial hypertrophic type 2 NGS Genetic Test
- 2525JPH2 Gene Cardiomyopathy, familial hypertrophic type 17 NGS Genetic Test
- 2527CALR3 Gene Cardiomyopathy, familial hypertrophic type 19 NGS Genetic Test
- 2528CSRP3 Gene Cardiomyopathy, familial hypertrophic type 12 NGS Genetic Test
- 2529LMNA Gene Cardiomyopathy, dilated with hypergonadotropic hypogonadism NGS Genetic Test
- 2530GATAD1 Gene Cardiomyopathy, dilated type 2B NGS Genetic Test
- 2531CAV3 Gene Long QT syndrome type 9 NGS Genetic Test
- 2532ANK2 Gene Long QT syndrome type 4 NGS Genetic Test
- 2533KCNE2 Gene Long QT syndrome type 6 NGS Genetic Test
- 2534MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test
- 2535MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic Test
- 2537MT-TF Gene MELAS syndrome NGS Genetic Test
- 2541KCNE1 Gene Long QT syndrome type 5 NGS Genetic Test
- 2542CACNA1C Gene Long QT syndrome type 8 NGS Genetic Test
- 2543KCNH2 Gene Long QT syndrome type 2 NGS Genetic Test
- 2545FBN1 Gene Marfan syndrome NGS Genetic Test
- 2548ABCC6 Gene Arterial calcification type 2, generalized, infantile NGS Genetic Test
- 2552SMAD6 Gene Aortic valve disease type 2 NGS Genetic Test
- 2553ENPP1 Gene Arterial calcification type 1, generalized, infantile NGS Genetic Test
- 2554MYLK Gene Aortic aneurysm, familial thoracic type 7 NGS Genetic Test
- 2558MAT2A Gene Aortic aneurysm, familial thoracic, MAT2A related NGS Genetic Test
- 2560SERPINC1 Gene Antithrombin III deficiency NGS Genetic Test
- 2566SLC12A2 Gene Bartter syndrome NGS Genetic Test
- 2567KCNJ1 Gene Bartter syndrome type 2 NGS Genetic Test
- 2568SLC12A3 Gene Bartter syndrome NGS Genetic Test
- 2569SLC12A1 Gene Bartter syndrome type 1 NGS Genetic Test
- 2570IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
- 2571NR1H4 Gene Cholestasis, infantile, NR1H4 related NGS Genetic Test
- 2572CCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic Test
- 2573CLCNKA Gene Bartter syndrome type 4b NGS Genetic Test
- 2574UGT1A1 Gene Crigler-Najjar syndrome, type 1 NGS Genetic Test
- 2575BBS9 Gene Bardet-Biedl syndrome type 9 NGS Genetic Test
- 2576RXFP2 Gene Cryptorchidism NGS Genetic Test
- 2579UGT1A1 Gene Crigler-Najjar syndrome, type 2 NGS Genetic Test
- 2582AQP2 Gene Diabetes insipidus, nephrogenic, autosomal NGS Genetic Test
- 2583F11 Gene Factor XI deficiency NGS Genetic Test
- 2585SLC7A9 Gene Cystinuria NGS Genetic Test
- 2586CLCN5 Gene Dent disease NGS Genetic Test
- 2588F13A1 Gene Factor XIIIA deficiency NGS Genetic Test
- 2590ESR1 Gene Estrogen resistance NGS Genetic Test
- 2593SLC2A9 Gene Hypouricemia, renal type 2 NGS Genetic Test
- 2594CR2 Gene Immunodeficiency, common variable type 7 NGS Genetic Test
- 2595TSHR Gene Hypothyroidism congenital nongoitrous type 1 NGS Genetic Test
- 2596TSHB Gene Hypothyroidism congenital nongoitrous type 4 NGS Genetic Test
- 2597PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test
- 2603FAN1 Gene Interstitial nephritis karyomegalic NGS Genetic Test
- 2604NR1H4 Gene Intrahepatic cholestasis of pregnancy, NR1H4 related NGS Genetic Test
- 2605TRHR Gene Hypothyroidism, isolated, TRHR related NGS Genetic Test
- 2606ANOS1 Gene Kallmann syndrome type 1 NGS Genetic Test
- 2607UBR1 Gene Johanson Blizzard syndrome NGS Genetic Test
- 2608PROK2 Gene Kallmann syndrome type 4 NGS Genetic Test
- 2611SCNN1B Gene Liddle syndrome NGS Genetic Test
- 2612FGFR1 Gene Kallmann syndrome type 2 NGS Genetic Test
- 2613SCNN1G Gene Liddle syndrome NGS Genetic Test
- 2614APOE Gene Lipoprotein glomerulopathy NGS Genetic Test
- 2615TRMU Gene Liver failure transient infantile NGS Genetic Test
- 2616STAR Gene Lipoid congenital adrenal hyperplasia NGS Genetic Test
- 2619XPNPEP3 Gene Nephronophthisis-like nephropathy type 1 NGS Genetic Test
- 2620PLCE1 Gene Nephrotic syndrome type 3 NGS Genetic Test
- 2623MC4R Gene Obesity NGS Genetic Test
- 2624NPHS2 Gene Nephrotic syndrome NGS Genetic Test
- 2625COQ8B Gene Nephrotic syndrome type 9 NGS Genetic Test
- 2626ARHGDIA Gene Nephrotic syndrome type 8 NGS Genetic Test
- 2627POMC Gene Obesity with adrenal insufficiency and red hair NGS Genetic Test
- 2629GLIS2 Gene Nephronophthisis type 7 NGS Genetic Test
- 2630NPHS1 Gene Nephrotic syndrome type 2 NGS Genetic Test
- 2632DGKE Gene Nephrotic syndrome type 7 NGS Genetic Test
- 2634SLC6A14 Gene Obesity, susceptibility to, SLC6A14 related NGS Genetic Test
- 2638AGT Gene Renal tubular dysgenesis NGS Genetic Test
- 2639SLC5A5 Gene Thyroid dyshormonogenesis type 1 NGS Genetic Test
- 2640REN Gene Renal tubular dysgenesis NGS Genetic Test
- 2642CEP290 Gene Senior-Loken syndrome type 6 NGS Genetic Test
- 2645TG Gene Thyroid dyshormonogenesis type 3 NGS Genetic Test
- 2646DUOXA2 Gene Thyroid dyshormonogenesis type 5 NGS Genetic Test
- 2647WNT4 Gene SERKAL syndrome NGS Genetic Test
- 2649WDR19 Gene Senior-Loken syndrome type 8 NGS Genetic Test
- 2650DUOX1 Gene Thyroid dyshormonogenesis type 6 NGS Genetic Test
- 2651TPO Gene Thyroid dyshormonogenesis type 2A NGS Genetic Test
- 2652HADHB Gene Trifunctional protein deficiency NGS Genetic Test
- 2656PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic Test
- 2658RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic Test
- 2659GFI1B Gene Bleeding disorder, platelet-type 17 NGS Genetic Test
- 2665HP Gene Anhaptoglobinemia NGS Genetic Test
- 2667RFX5 Gene Bare lymphocyte syndrome, type 2, complementation group C NGS Genetic Test
- 2668ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test
- 2670RPS24 Gene Diamond-blackfan anemia type 3 NGS Genetic Test
- 2671RPL35A Gene Diamond-Blackfan anemia type 5 NGS Genetic Test
- 2673TSR2 Gene Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis NGS Genetic Test
- 2674RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic Test
- 2678COX4I2 Gene Dyserythropoietic anemia NGS Genetic Test
- 2679RPS29 Gene Diamond-Blackfan anemia type 13 NGS Genetic Test
- 2680EGLN1 Gene Erythrocytosis, familial type 3 NGS Genetic Test
- 2681EPOR Gene Erythrocytosis, familial type 1 NGS Genetic Test
- 2682KIF23 Gene Dyserythropoietic anemia, congenital, type 3 NGS Genetic Test
- 2683G6PD Gene Favism, susceptibility to NGS Genetic Test
- 2685CYBA Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NGS Genetic Test
- 2688ITGB3 Gene Thrombocytopenia, neonatal alloimmune NGS Genetic Test
- 2689ETV6 Gene Thrombocytopenia type 5 NGS Genetic Test
- 2690F9 Gene Thrombophilia, X-linked, due to factor IX defect NGS Genetic Test
- 2692ANKRD26 Gene Thrombocytopenia type 2 NGS Genetic Test
- 2693GGCX Gene Vitamin K-dependent clotting factors combined deficiency type 1 NGS Genetic Test
- 2694ADAMTS13 Gene Thrombotic thrombocytopenic purpura NGS Genetic Test
- 2697GATA1 Gene Thrombocytopenia, X-linked NGS Genetic Test
- 2698F2 Gene Thrombophilia due to thrombin defect NGS Genetic Test
- 2699GATA1 Gene Thrombocytopenia with beta thalassemia X-linked NGS Genetic Test
- 2700WAS Gene Thrombocytopenia, X-linked, intermittent NGS Genetic Test
- 2701TBXAS1 Gene Thromboxane synthase deficiency NGS Genetic Test
- 2702EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test
- 2704FGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test
- 2706ERF Gene Craniosynostosis type 4 NGS Genetic Test
- 2707FGFR2 Gene Craniosynostosis, nonspecific NGS Genetic Test
- 2708TCF12 Gene Craniosynostosis type 3 NGS Genetic Test
- 2711ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic Test
- 2712ZIC1 Gene Craniosynostosis type 6 NGS Genetic Test
- 2716MSX2 Gene Craniosynostosis type 2 NGS Genetic Test
- 2717XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic Test
- 2718WAC Gene Desanto-Shinawi syndrome NGS Genetic Test
- 2719CANT1 Gene Desbuquois dysplasia type 1 NGS Genetic Test
- 2720TBC1D24 Gene DOOR syndrome NGS Genetic Test
- 2721HMG20B Gene Dysmorphism, HMG20B related NGS Genetic Test
- 2722DHCR24 Gene Desmosterolosis NGS Genetic Test
- 2723TBX1 Gene DiGeorge syndrome NGS Genetic Test
- 2724RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic Test
- 2726EVC Gene Ellis-van Creveld syndrome NGS Genetic Test
- 2727LRP2 Gene Donnai-Barrow syndrome NGS Genetic Test
- 2729TP63 Gene Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 NGS Genetic Test
- 2730EVC2 Gene Ellis-van Creveld syndrome NGS Genetic Test
- 2731COL2A1 Gene Epiphyseal dysplasia, multiple, with myopia and deafness NGS Genetic Test
- 2733KAT6B Gene Genitopatellar syndrome NGS Genetic Test
- 2734KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic Test
- 2739FBN1 Gene Geleophysic dysplasia type 2 NGS Genetic Test
- 2742GHR Gene Growth hormone insensitivity, partial NGS Genetic Test
- 2746GLI3 Gene Greig cephalopolysyndactyly syndrome NGS Genetic Test
- 2747PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic Test
- 2749ARX Gene Lissencephaly, X-linked type 2 NGS Genetic Test
- 2751DCX Gene Lissencephaly, X-linked type 1 NGS Genetic Test
- 2755LEFTY2 Gene Left-right axis malformations NGS Genetic Test
- 2756PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic Test
- 2758TP63 Gene Limb-mammary syndrome NGS Genetic Test
- 2760BRAF Gene LEOPARD syndrome type 3 NGS Genetic Test
- 2761GLE1 Gene Lethal congenital contracture syndrome type 1 NGS Genetic Test
- 2762CEP63 Gene Microcephaly, CEP63 related NGS Genetic Test
- 2763KNL1 Gene Microcephaly, autosomal recessive type 4 NGS Genetic Test
- 2766MSMO1 Gene Microcephaly, MSMO1 related NGS Genetic Test
- 2768CDK6 Gene Microcephaly, autosomal recessive type 12 NGS Genetic Test
- 2769CENPE Gene Microcephaly, autosomal recessive type 13 NGS Genetic Test
- 2772QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic Test
- 2773ASPM Gene Microcephaly, autosomal recessive type 5 NGS Genetic Test
- 2775MRE11 Gene Microcephaly, MRE11A related NGS Genetic Test
- 2776CEP152 Gene Microcephaly, autosomal recessive type 9 NGS Genetic Test
- 2784DHODH Gene Postaxial acrofacial dysostosis NGS Genetic Test
- 2785CHRM3 Gene Prune belly syndrome NGS Genetic Test
- 2786MECP2 Gene Rett syndrome NGS Genetic Test
- 2789DVL1 Gene Robinow syndrome, autosomal dominant type 2 NGS Genetic Test
- 2790WNT5A Gene Robinow syndrome, autosomal dominant type 1 NGS Genetic Test
- 2791PEPD Gene Prolidase deficiency NGS Genetic Test
- 2793TP63 Gene Rapp-Hodgkin syndrome NGS Genetic Test
- 2794GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 NGS Genetic Test
- 2795ROR2 Gene Robinow syndrome, autosomal recessive NGS Genetic Test
- 2797EP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test
- 2799ESCO2 Gene SC Phocomelia syndrome NGS Genetic Test
- 2800MAGEL2 Gene Schaaf-Yang syndrome NGS Genetic Test
- 2801FGFR2 Gene Saethre-Chotzen syndrome NGS Genetic Test
- 2802SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic Test
- 2803SLC35D1 Gene Schneckenbecken dysplasia NGS Genetic Test
- 2804FGFR2 Gene Scaphocephaly, maxillary retrusion, and mental retardation NGS Genetic Test
- 2805TWIST1 Gene Robinow-Sorauf syndrome NGS Genetic Test
- 2810WNT4 Gene SERKAL syndrome NGS Genetic Test
- 2811WDR19 Gene Short-rib thoracic dysplasia type 5 with or without polydactyly NGS Genetic Test
- 2813WDR35 Gene Short-rib thoracic dysplasia type 7 with or without polydactyly NGS Genetic Test
- 2814IFT172 Gene Short-rib thoracic dysplasia type 10 with or without polydactyly NGS Genetic Test
- 2818SKI Gene Shprintzen-Goldberg syndrome NGS Genetic Test
- 2819IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic Test
- 2820WDR34 Gene Short-rib thoracic dysplasia type 11 with or without polydactyly NGS Genetic Test
- 2821maternal UPD chr. 7 Gene Silver-Russell syndrome NGS Genetic Test
- 2824ZIC5 Gene ZIC5 related brain disorders NGS Genetic Test
- 2825Myeloid tumor panel NGS Genetic Test
- 2826chr. 11p15 Gene Beckwith-Wiedemann syndrome NGS Genetic Test
- 2827PTCH2 Gene Basal cell nevus syndrome due to germline PTCH2 mutation NGS Genetic Test
- 2828Solid tumor panel NGS Genetic Test
- 2830DNMT3A Gene Acute myeloid leukemia, somatic, DNMT3A related NGS Genetic Test
- 2831CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic Test
- 2835Breast comprehensive panel NGS Genetic Test
- 2836PTCH1 Gene Basal cell nevus syndrome NGS Genetic Test
- 2838XRCC3 Gene Breast cancer, susceptibility to NGS Genetic Test
- 2841CALR Gene CALR, selective sequencing of exon 9 NGS Genetic Test
- 2842RAD51D Gene Breast-ovarian cancer, familial, susceptibility to, type 4 NGS Genetic Test
- 2843KCNQ1OT1 Gene Beckwith-Wiedemann syndrome NGS Genetic Test
- 2844RECQL Gene Breast cancer, susceptibility to NGS Genetic Test
- 2845PRKAR1A Gene Carney complex type 1 NGS Genetic Test
- 2846SDHD Gene Carcinoid tumors, intestinal NGS Genetic Test
- 2847RAD51C Gene Breast-ovarian cancer NGS Genetic Test
- 2848RINT1 Gene Breast cancer, RINT1 related NGS Genetic Test
- 2849BARD1 Gene Breast cancer, susceptibility to NGS Genetic Test
- 2850CDC20 Gene Cell cycle disorder, CDC20 related NGS Genetic Test
- 2852MLH1 Gene Colorectal cancer, hereditary nonpolyposis type 2 NGS Genetic Test
- 2853NRAS Gene Colorectal cancer, hereditary NGS Genetic Test
- 2854EPCAM Gene Colorectal cancer, hereditary nonpolyposis type 8 NGS Genetic Test
- 2856MSH2 Gene Colorectal cancer, hereditary nonpolyposis type 1 NGS Genetic Test
- 2858MLH3 Gene Colorectal cancer, hereditary nonpolyposis type 7 NGS Genetic Test
- 2859TGFBR2 Gene Colorectal cancer, hereditary nonpolyposis type 6 NGS Genetic Test
- 2861CCND1 Gene Colorectal cancer, hereditary, susceptibility to NGS Genetic Test
- 2862ATR Gene Cutaneous telangiectasia and cancer syndrome, familial NGS Genetic Test
- 2863PTEN Gene Cowden syndrome type 1 NGS Genetic Test
- 2865SDHD Gene Cowden syndrome type 3 NGS Genetic Test
- 2866CYLD Gene Cylindromatosis, familial NGS Genetic Test
- 2867MSH6 Gene Endometrial cancer, familial, MSH6 related NGS Genetic Test
- 2868APC Gene Familial adenomatous polyposis coli NGS Genetic Test
- 2871EGFR Gene EGFR, selective sequencing of exons 18-21 NGS Genetic Test
- 2873MSH3 Gene Familial adenomatous polyposis type 4 NGS Genetic Test
- 2875RAD50 Gene Hereditary breast and ovarian cancer syndrome, RAD50 related NGS Genetic Test
- 2877JAK2 Gene JAK2, selective sequencing of exons 12, 14 and 16 NGS Genetic Test
- 2878KDR Gene Hemangioma, capillary infantile, familial, susceptibility to NGS Genetic Test
- 2879NCF1 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 NGS Genetic Test
- 2881CBL Gene Juvenile myelomonocytic leukemia, due to CBL germline mutation NGS Genetic Test
- 2883SMAD4 Gene Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NGS Genetic Test
- 2885PTPN11 Gene Leukemia, juvenile myelomonocytic NGS Genetic Test
- 2886ZBTB16 Gene Leukemia, acute promyelocytic, PL2F/RARA type NGS Genetic Test
- 2887EZH2 Gene Leukemia, lymphoblastic and myeloid, EZH2 related NGS Genetic Test
- 2889SMAD4 Gene Juvenile polyposis syndrome NGS Genetic Test
- 2891CDK4 Gene Melanoma, cutaneous malignant, familial, CDK4 related NGS Genetic Test
- 2893CDKN2A Gene Melanoma, cutaneous malignant, familial NGS Genetic Test
- 2895POT1 Gene Melanoma, cutaneous malignant, familial type 10, susceptibility to NGS Genetic Test
- 2897SMARCE1 Gene Meningioma, familial, susceptibility to NGS Genetic Test
- 2898MN1 Gene Meningioma, MN1 deficiency related NGS Genetic Test
- 2900MSH2 Gene Mismatch repair cancer syndrome NGS Genetic Test
- 2901MSH6 Gene Mismatch repair cancer syndrome NGS Genetic Test
- 2902MPL Gene MPL, selective sequencing of exon 10 NGS Genetic Test
- 2903MLH1 Gene Mismatch repair cancer syndrome NGS Genetic Test
- 2904PMS2 Gene Mismatch repair cancer syndrome NGS Genetic Test
- 2905MMR genes Gene MMR genes methylation analysis NGS Genetic Test
- 2906MLH1 Gene Muir-Torre syndrome NGS Genetic Test
- 2908PRKAR1A Gene Myxoma, intracardiac NGS Genetic Test
- 2909CDKN2B Gene Multiple endocrine neoplasia type 1, CDKN2B related NGS Genetic Test
- 2910TET2 Gene Myelodysplastic syndrome, somatic NGS Genetic Test
- 2911JAK2 Gene Myelofibrosis, somatic NGS Genetic Test
- 2912MSH2 Gene Muir-Torre syndrome NGS Genetic Test
- 2914NF2 Gene Neurofibromatosis type 2 NGS Genetic Test
- 2915PMS1 Gene Nonpolyposis hereditary colon cancer, PMS1 related NGS Genetic Test
- 2919SDHD Gene Paraganglioma and gastric stromal sarcoma NGS Genetic Test
- 2921SDHB Gene Paragangliomas type 4 NGS Genetic Test
- 2924SDHAF2 Gene Pheochromocytoma type 5 NGS Genetic Test
- 2925SDHC Gene Pheochromocytoma type 3 NGS Genetic Test
- 2926AIP Gene Pituitary adenoma, ACTH-secreting, due to AIP germline mutation NGS Genetic Test
- 2928SDHB Gene Pheochromocytoma type 2 NGS Genetic Test
- 2929SDHD Gene Pheochromocytoma type 1 NGS Genetic Test
- 2937Achondroplasia Mutation Analysis (FGFR3 Gene G1138A, G1138C)
- 29385-Flurouracil (5-FU) Toxicity and Chemotherapeutic Response (DPYD Variants)
- 2940MET Gene Renal cell carcinoma, papillary type 1, familial NGS Genetic Test
- 2944Alpha Thalassemia Mutation Screening (3 Common Mutations)
- 2950CAH (Congenital Adrenal Hyperplasia) Full Gene Sequence Analysis
- 2952Cardiac Channelopathy Gene Panel
- 2955BRAF Mutation Analysis (V600E)
- 2956CAH Deletion & Duplication Detection
- 2958Bone Marrow Failure Syndrome
- 2959CBFB-MYH11[Inv(16)] Qualitative
- 2967Chromosomes 18, X & Y
- 2968CEBPA Full Gene Mutation Analysis
- 2971Chronic Neutrophilic Leukemia (CNL)(CSF3R Gene - Exon 14 & 17; SETBP Gene - Exon 4)
- 2974Chromosomes 13, 18, 21, X & Y
- 2977Cord Blood For Karyotyping
- 2979CXCR4 Gene Mutation Analysis
- 2991Cytochrome P450 2C19 Genotyping (CYP2C19) Clopidogrel Resistance (*2,*3,*4,*10)
- 2994Extended AML Panel (BCR/ABL,AML/ETO, CBFB, PML/RARA, FLT3, NPM1, CEBPA)
- 2997Familial Mediterranean Fever: MEFV Full Gene Analysis
- 2998Erythropoietin Receptor Gene Mutation Analysis
- 2999Factor II Mutation Screening (F2 - G20210A)
- 3000Factor V Mutation Screening (F5 - G1691A)
- 3001FGFR1
- 3012Frozen-2
- 3016FLT3 (ITD, D835Y) Mutation Detection
- 3017Fragile X Syndrome (FMR1) Detection by PCR
- 3018FLT3/ITD Allelic Ratio
- 3019HBOC Extended Panel [Hereditary Breast And Ovarian Cancer] (32 Genes)
- 3022Glycogen Storage Disorder Gene Panel
- 3026Hemochromatosis HFE Full Gene Sequence Analysis
- 3030Hereditary Persistence of Fetal Hemoglobin (HPFH)
- 3033HLA A, B, C, DRB1, DQB1 [High Resolution]
- 3040Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C & C282Y)
- 3042HLA A, B, DRB1 [High Resolution]
- 3046HLA-B*57:01 Genotyping (for Abacavir Hypersensitivity)
- 3047HLA-DRB1*1501 Genotyping (Multiple Sclerosis)
- 3050HLA-B*1502 Genotyping (Carbamazepine)
- 3052IDH1 & IDH2 Mutation Analysis
- 3070Jak 2 Mutation Detection Panel (Exons 12-15)
- 3075Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel
- 3080Microarray 315K+ Single Karyotyping (AF/CVS/CB/POC/PB)
- 3083Chromosomal Microarray 315K (AF/CVS/CB/POC/PB)
- 3084Microarray 180K (AF/CVS/CB/POC/PB)
- 3085Microarray 60K (AF/CVS) + Karyotyping + FISH chromosome 21
- 3087Microarray 60K (AF/CVS/CB)
- 3089Methylenetetrahydrofolate Reductase (MTHFR - 2 Variants C677T, A1298C)
- 3090Microarray 60K (Peripheral Blood/Cord Blood/Fetal Blood) + Karyotyping
- 3092Microsatellite Instability (Lynch Syndrome/Colorectal Cancer)
- 3093Microarray 750K (AF/CVS/CB/POC/PB)
- 3095Microarray 60K (POC) + Couple Karyotyping
- 3096Microarray 750K+ Single Karyotyping (AF/CVS/CB/POC/PB)
- 3101Muscular Dystrophy Gene Panel
- 3107Nervous System Cancer Gene Panel
- 3111Neuronal Ceroid Lipofuscinosis Gene Panel
- 3112NIPT Microdeletion Test
- 3113NPM1 Gene Fragment Analysis
- 3114NPM1+ CEBPA
- 3116NPM1 Mutation Analysis (Exon 12 Insertion)
- 3120NPM1+FLT3+CEBPA
- 3128Oncomine Focus Panel
- 3129Oncomine Comprehensive Plus Panel
- 3130Oncomine Tumor Mutation Burden (TMB)
- 3132NUDT15 Gene Mutation Analysis
- 3133Oncomine Myeloid Panel [MDS,MPN,AML,CML,CMML,JMML]
- 3137Autosomal STR (Fragment Analysis)
- 3138PDGFR + cKIT (Gastrointestinal Stromal Tumors)
- 3145Peripheral Blood for Karyotyping (Couple)
- 3149PIK3CA Mutation Analysis (Exon 7, 9 & 20)
- 3153PIK3CA by NGS
- 3155Pol Gene Mutation Analysis
- 3159Polycystic Kidney Disease Gene Panel
- 3164Pre-Implantation Genetic Disorder/PGD HLA Typing (Single Embryo)
- 3166Pediatric ALL Panel - Karyotyping + MLPA Deletion/Duplication + FISH Panel
- 3167Prenatal Alpha Thalassemia Mutation Screening (3 Common Mutation)
- 3168Prenatal Diagnostic Screening by Karyotyping + FISH for 13, 18, 21, X and Y
- 3169Prenatal Diagnostic Screening by Karyotyping + FISH (for any one 13, 18, 21, X and Y)
- 3171Prenatal Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis)
- 3173Products of Conception (POC) for Karyotyping
- 3174QF PCR[Any One Marker]
- 3175QF PCR Panel [13,18,21,XY]
- 3177QF PCR Panel [13,18,21,XY] + Karyotyping
- 3180Retinal Degeneration Gene Panel
- 3192RUNX1-RUNX1T1 (AML1- ETO) t(8;21) Qualitative
- 3194Sickle Cell Mutation Screening [Prenatal]
- 3195Sickle Cell Disease Mutation Screening
- 3201RUNX1-RUNX1T1 (AML1- ETO) t(8;21) Quantitative
- 3210Spinal Muscular Atrophy Screening [Prenatal]
- 3213Spinal Muscular Atrophy Gene Panel
- 3215Spino Cerebral Ataxia (SCA Panel - 1, 2, 3, 6, 7, 10 & 12)
- 3216Spinal Muscular Atrophy Carrier Screening
- 3219Targeted Mutation Analysis (1 Mutation)
- 3224TEL/AML1 Quantitative
- 3229TSC1 & TSC2 Gene Analysis
- 3230Thiopurine Methyltransferase (TPMT - *2, *3A, *3B, *3C) Genotyping
- 3233VNTR Chimerism Study [PRE BMT]
- 3236William's Syndrome (Karyotyping+FISH)
- 3239X & Y Identification Test
- 3240Y Chromosome Microdeletion (16 Mutations)
- 3241Home DNA Test Kit - Swab Self Collection
- 3242WS1 Full Gene Sequence Analysis (Wolfram Syndrome, DIDMOAD)
- 3243Paternity DNA Test
- 3257Beta-Globin Quantitative Test
- 3260BCR/ABL Minor Quantitative Test
- 3261Family Tree Ancestry DNA Test
- 3308Factor V Leiden Detection (RNA Detection) Qualitative Test
- 3315GAPDH Gene Load Test
- 3379Goat / Sheep Meat Bifurcation Testing
- 3380Beef Adulteration Testing
- 3387rbcL Sequencing
- 338912S rRNA Sequencing
- 3393Soybeans GMO Testing
- 3395Corn GMO Testing
- 3401Human Bisulfite Sequencing
- 34023 Kb Matepair Library Preparation
- 340512 Kb Matepair Library Preparation
- 3406ATAC Sequencing
- 3407ddRAD Sequencing-96 Samples
- 3409Chloroplast Genome Sequencing
- 3410Amplicon Library Preparation
- 3411DNA Short Insert Library Preparation
- 3412Hi-C Sequencing
- 3414Eukaryotic mRNA Sequencing-Ultra Low Input
- 3416Eukaryotic mRNA Sequencing
- 3418Eukaryotic mRNA Sequencing Library Preparation
- 3419Eukaryotic Stranded Transcriptome Sequencing-Including lncRNA
- 3423Eukaryotic mRNA Sequencing Library Preparation
- 3424Eukaryotic Transcriptome Sequencing-Including lncRNA
- 3426Eukaryotic mRNA Sequencing Library Preparation-Ultra Low Input
- 3431Eukaryotic Transcriptome Library Preparation- Including lncRNA
- 3432Eukaryotic Stranded Transcriptome Library Preparation- Including lncRNA
- 3436Comprehensive Hereditary Cancer Panel - 157 Genes Test
- 3437Hemophilia A Common Mutation Screening (Factor VIII Intron 22 and Intron 1 Inversion Analysis)
- 3439Osteogenesis Imperfecta Gene Panel
- 3442Exome Max Test
- 3444Comprehensive Alpha and Beta Thalassemia Gene Panel
- 3445PIK3CA Mutation Analysis
- 3449Hair Loss DNA Test
- 3452Chromosome Analysis Amniotic Fluid Test
- 3461Chromotouch Chromosome SNP Microarray Optima Prenatal Test
- 3480HLA - DR5 (DRB1*11/12) Test
- 3482IMD Panel Extended Test
- 3508KIR (Killer cell immunoglobulin-like receptor) Genotyping Test
- 3516Comprehensive Hereditary Cancer Panel (190 Genes) Test
- 3558PML RARA t(1517)(q22q12) Gene Rearrangement Qualitative PCR Test
- 3562PML RARA t(1517)(q22q12) Gene Rearrangement Quantitative PCR Test
- 3577Protein S Antigen Total Test
- 3599Reticulocyte Count Test
- 3607Ristocetin Cofactor Test
- 3617Sanger Sequencing: Single Variant Test
- 3623SARS-CoV-2 Neutralizing Antibody Test
- 3628SCA (Spinocerebellar Ataxia): Extended Profile Test
- 3629SCA-1 (Spinocerebellar Ataxia): ATXN1 Gene Mutation Test
- 3630SCA (Spinocerebellar Ataxia): Comprehensive Profile Test
- 3631SCA-11 (Spinocerebellar Ataxia): TTBK2 Gene Mutation Test
- 3633SCA-12 (Spinocerebellar Ataxia): PPP2R2B Gene Mutation Test
- 3640Sickle Cell Anemia Trio Prenatal Mutation Detection Test
- 3651Sphingolipidosis Panel 2 Test
- 3653Spinal Muscular Atrophy (SMA) Mutation Detection Test
- 3657Spinal Muscular Atrophy (SMA) Carrier Detection Test
- 3660Sphingolipidosis Panel 3 Test
- 3676Succinylacetone Blood Test
- 3684Thalassemia Beta Mutation Analysis Test
- 3685Thalassemia Beta Trio Prenatal Mutation Detection Test
- 3714Urea Cycle Disorder Panel Test
- 3741Venous Thrombosis Risk Analysis Panel Test
- 3757WT-1 Mutation Detection Test
- 3758Wilson Disease ATP7 B Gene Mutation Detection Test
- 3762TYRP1 Gene Albinism, Oculocutaneous Type 3 NGS Genetic Test
- 3766PAX6 Gene Aniridia NGS Genetic Test
- 3767PITX3 Gene Anterior Segment Mesenchymal Dysgenesis NGS Genetic Test
- 3768C10ORF11 Gene Albinism, Oculocutaneous Type 5 NGS Genetic Test
- 3769CYP4V2 Gene Bietti Crystalline Corneoretinal Dystrophy NGS Genetic Test
- 3771FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis NGS Genetic Test
- 3772CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic Test
- 3773RLBP1 Gene Bothnia Retinal Dystrophy NGS Genetic Test
- 3774RGS9 Gene Bradyopsia NGS Genetic Test
- 3775SIX5 Gene Branchiootorenal Syndrome Type 2 NGS Genetic Test
- 3776UBE3B Gene Blepharophimosis-Ptosis-Intellectual Disability Syndrome NGS Genetic Test
- 3777RGS9BP Gene Bradyopsia NGS Genetic Test
- 3778PITX3 Gene Cataract 11, Multiple Types NGS Genetic Test
- 3780EYA1 Gene Branchiootorenal Syndrome Type 1 NGS Genetic Test
- 3781ZNF469 Gene Brittle Cornea Syndrome NGS Genetic Test
- 3782CRYBA4 Gene Cataract Type 23 NGS Genetic Test
- 3783WFS1 Gene Cataract Type 41 NGS Genetic Test
- 3784UNC45B Gene Cataract Type 43 NGS Genetic Test
- 3786GCNT2 Gene Cataract, Autosomal Dominant NGS Genetic Test
- 3787CRYBB1 Gene Cataract Type 17, Multiple Types NGS Genetic Test
- 3788TDRD7 Gene Cataract, Autosomal Recessive Congenital Type 4 NGS Genetic Test
- 3789AGK Gene Cataract, Autosomal Recessive Type 38 NGS Genetic Test
- 3790HSF4 Gene Cataract, Lamellar NGS Genetic Test
- 3796IARS2 Gene Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia NGS Genetic Test
- 3797GJA8 Gene Cataract-Microcornea Syndrome NGS Genetic Test
- 3798MAF Gene Cataract, Pulverulent or Cerulean, with or without Microcornea NGS Genetic Test
- 3799CRYAA Gene Cataract, Autosomal Recessive Congenital Type 1 NGS Genetic Test
- 3802PAX6 Gene Coloboma of Optic Nerve NGS Genetic Test
- 3804CTC1 Gene Coat Plus Syndrome NGS Genetic Test
- 3805RAX2 Gene Cone-Rod Dystrophy Type 11 NGS Genetic Test
- 3806AIPL1 Gene Cone-Rod Dystrophy NGS Genetic Test
- 3807TENM1 Gene Colobomatous Microphthalmia NGS Genetic Test
- 3809UNC119 Gene Cone-Rod Dystrophy NGS Genetic Test
- 3810CD3G Gene Cone-Rod Dystrophy Type 17 NGS Genetic Test
- 3812PROM1 Gene Cone-Rod Dystrophy Type 12 NGS Genetic Test
- 3813GUCA1A Gene Cone-Rod Dystrophy Type 14 NGS Genetic Test
- 3814CDHR1 Gene Cone-Rod Dystrophy Type 15 NGS Genetic Test
- 3815CRX Gene Cone-Rod Dystrophy Type 2 NGS Genetic Test
- 3816POC1B Gene Cone-Rod Dystrophy Type 20 NGS Genetic Test
- 3817ADAM9 Gene Cone-Rod Dystrophy Type 9 NGS Genetic Test
- 3818PITPNM3 Gene Cone-Rod Dystrophy Type 5 NGS Genetic Test
- 3819PDE6C Gene Cone-Rod Dystrophy Type 4 NGS Genetic Test
- 3821RIMS1 Gene Cone-Rod Dystrophy Type 7 NGS Genetic Test
- 3822TUBB3 Gene Fibrosis of Extraocular Muscles, Congenital Type 3a NGS Genetic Test
- 3824ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic Test
- 3825PAX6 Gene Foveal Hypoplasia Type 1 NGS Genetic Test
- 3826PLA2G5 Gene Fleck Retina, Familial Benign NGS Genetic Test
- 3827ROBO3 Gene Gaze Palsy, Horizontal, with Progressive Scoliosis NGS Genetic Test
- 3828RDH5 Gene Fundus Albipunctatus NGS Genetic Test
- 3829OPTN Gene Glaucoma, Open Angle Type 1E NGS Genetic Test
- 3830ITPR1 Gene Gillespie Syndrome NGS Genetic Test
- 3831MYOC Gene Glaucoma, Open Angle Type 1A NGS Genetic Test
- 3832PRPH2 Gene Fundus Albipunctatus NGS Genetic Test
- 3833ASB10 Gene Glaucoma, Open Angle Type 1F NGS Genetic Test
- 3834WDR36 Gene Glaucoma, Open Angle Type 1G NGS Genetic Test
- 3835NTF4 Gene Glaucoma, Open Angle Type 1F NGS Genetic Test
- 3836CYP1B1 Gene Glaucoma, Primary Type 3A NGS Genetic Test
- 3837HPS4 Gene Hermansky Pudlak Syndrome Type 4 NGS Genetic Test
- 3839AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic Test
- 3841OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia NGS Genetic Test
- 3843HPS1 Gene Hermansky-Pudlak Syndrome Type 1 NGS Genetic Test
- 3844Ataxia Panel NGS Genetic Test
- 3846CentoIEM NGS Genetic Test
- 3847Ataxia Repeat Expansion Panel NGS Genetic Test
- 3848Ataxia Comprehensive Panel NGS Genetic Test
- 3849NGSNeuro NGS Genetic Test
- 3850NGSMito Comprehensive NGS Genetic Test
- 3851Intellectual Disability Panel NGS Genetic Test
- 3852Dementia Panel NGS Genetic Test
- 3853NGSMito Genome NGS Genetic Test
- 3854Dystonia Panel NGS Genetic Test
- 3855Neuromuscular Panel NGS Genetic Test
- 3856Epilepsy Panel NGS Genetic Test
- 3857Spastic Paraplegia Panel NGS Genetic Test
- 3858GFAP Gene Alexander Disease NGS Genetic Test
- 3859ADAR Gene Aicardi-Goutieres Syndrome Type 6 NGS Genetic Test
- 3860SLC16A2 Gene Allan-Herndon-Dudley Syndrome NGS Genetic Test
- 3861Parkinson Disease Panel NGS Genetic Test
- 3862ATRX Gene Alpha-Thalassemia/Mental Retardation Syndrome NGS Genetic Test
- 3863ATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 NGS Genetic Test
- 3867APOE Gene Alzheimer Disease Type 2 NGS Genetic Test
- 3868ADAM10 Gene Alzheimer Disease Type 18, Susceptibility to NGS Genetic Test
- 3870TTR Gene Amyloidosis NGS Genetic Test
- 3871PSEN1 Gene Alzheimer Disease Type 3 NGS Genetic Test
- 3873PSEN2 Gene Alzheimer Disease Type 4 NGS Genetic Test
- 3874TARDBP Gene Amyotrophic Lateral Sclerosis Type 10 NGS Genetic Test
- 3875CHGB Gene Amyotrophic Lateral Sclerosis Risk Factor NGS Genetic Test
- 3876FIG4 Gene Amyotrophic Lateral Sclerosis Type 11 NGS Genetic Test
- 3878SIGMAR1 Gene Amyotrophic Lateral Sclerosis Type 16 NGS Genetic Test
- 3879OPTN Gene Amyotrophic Lateral Sclerosis Type 12 NGS Genetic Test
- 3880VCP Gene Amyotrophic Lateral Sclerosis Type 14 NGS Genetic Test
- 3881ALS2 Gene Amyotrophic Lateral Sclerosis Type 2, Juvenile NGS Genetic Test
- 3882ST3GAL5 Gene Amish Infantile Epilepsy Syndrome NGS Genetic Test
- 3883CHMP2B Gene Amyotrophic Lateral Sclerosis Type 17 NGS Genetic Test
- 3884SOD1 Gene Amyotrophic Lateral Sclerosis Type 1 NGS Genetic Test
- 3886SETX Gene Amyotrophic Lateral Sclerosis Type 4 NGS Genetic Test
- 3887MATR3 Gene Amyotrophic Lateral Sclerosis Type 21 NGS Genetic Test
- 3888PFN1 Gene Amyotrophic Lateral Sclerosis Type 18 NGS Genetic Test
- 3889VAPB Gene Amyotrophic Lateral Sclerosis Type 8 NGS Genetic Test
- 3891NEFH Gene Amyotrophic Lateral Sclerosis, Susceptibility to NGS Genetic Test
- 3892SS18L1 Gene Amyotrophic Lateral Sclerosis, CREST Related NGS Genetic Test
- 3893TRPM7 Gene Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility to NGS Genetic Test
- 3894UBQLN2 Gene Amyotrophic Lateral Sclerosis, X-Linked Juvenile and Adult-Onset ALS NGS Genetic Test
- 3895UBE3A Gene Angelman Syndrome NGS Genetic Test
- 3897RABGGTA Gene Autism Spectrum Disorder NGS Genetic Test
- 3898Chr. 15q11 Gene Angelman Syndrome NGS Genetic Test
- 3899VPS54 Gene Amyotrophic Lateral Sclerosis, VPS54 Related NGS Genetic Test
- 3900MXRA5 Gene Autism Spectrum, MXRA5 Related NGS Genetic Test
- 3901GRM7 Gene Autism Spectrum/Hyperactivity/Bipolar Disorder, GRM7 Related NGS Genetic Test
- 39029-Sep Gene Amyotrophy Hereditary Neuralgic NGS Genetic Test
- 3904NLGN4X Gene Autism Susceptibility, X-Linked Type 2 NGS Genetic Test
- 3905TMLHE Gene Autism Susceptibility, X-Linked Type 6 NGS Genetic Test
- 3907CHD8 Gene Autism Susceptibility, Type 18 NGS Genetic Test
- 3908SHANK2 Gene Autism Susceptibility, X-Linked Type 17 NGS Genetic Test
- 3909ATP1B4 Gene Autism, ATP1B4 Related NGS Genetic Test
- 3911EIF4E Gene Autism Susceptibility, Type 19 NGS Genetic Test
- 3912MECP2 Gene Autism Susceptibility, X-Linked Type 3 NGS Genetic Test
- 3913EFCAB13 Gene Autism, EFCAB13 Related NGS Genetic Test
- 3915AVPR1A Gene Autism, AVPR1A Related NGS Genetic Test
- 3916SLC9A9 Gene Autism Susceptibility, Type 16 NGS Genetic Test
- 3917CELF6 Gene Autism, CELF6 Related NGS Genetic Test
- 3918GYG2 Gene Autism, GYG2 Related NGS Genetic Test
- 3919IQCE Gene Autism, IQCE Related NGS Genetic Test
- 3920FCRL6 Gene Autism, FCRL6 Related NGS Genetic Test
- 3921C7orf43 Gene Autism, C7orf43 Related NGS Genetic Test
- 3922FAAH2 Gene Autism, FAAH2 Related NGS Genetic Test
- 3923MBD1 Gene Autism, MBD1 Related NGS Genetic Test
- 3924SETD2 Gene Autism, SETD2 Related NGS Genetic Test
- 3925OR13H1 Gene Autism, OR13H1 Related NGS Genetic Test
- 3926UNC13B Gene Autism, UNC13B Related NGS Genetic Test
- 3927OXTR Gene Autism, OXTR Related NGS Genetic Test
- 3928NTNG1 Gene Autism, NTNG1 Related NGS Genetic Test
- 3929PKHD1L1 Gene Autism, PKHD1L1 Related NGS Genetic Test
- 3930RNF128 Gene Autism, RNF128 Related NGS Genetic Test
- 3931SLC22A9 Gene Autism, SLC22A9 Related NGS Genetic Test
- 3932ZNF778 Gene Autism, ZNF778 Related NGS Genetic Test
- 3933COL6A2 Gene Bethlem Myopathy NGS Genetic Test
- 3934COL12A1 Gene Bethlem Myopathy Type 2 NGS Genetic Test
- 3935RRM1 Gene Autism, RRM1 Related NGS Genetic Test
- 3937ATP10A Gene Autism/Mental Retardation/Angelman Syndrome, Susceptibility to, ATP10A Related NGS Genetic Test
- 3938MAOA Gene Brunner Syndrome NGS Genetic Test
- 3940CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy NGS Genetic Test
- 3941LDB3 Gene Cardiomyopathy, Hypertrophic, Type 24 NGS Genetic Test
- 3943ASPA Gene Canavan Disease NGS Genetic Test
- 3944RYR1 Gene Central Core Disease NGS Genetic Test
- 3945ATP1A3 Gene CAPOS Syndrome NGS Genetic Test
- 3948ATP2A1 Gene Brody Myopathy NGS Genetic Test
- 3949CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic Test
- 3951GAD1 Gene Cerebral Palsy Type 1, Spastic Quadriplegic NGS Genetic Test
- 3953NKX2-1 Gene Chorea, Hereditary Benign NGS Genetic Test
- 3954VPS13A Gene Choreoacanthocytosis NGS Genetic Test
- 3955KANK1 Gene Cerebral Palsy Type 2, Spastic Quadriplegic NGS Genetic Test
- 3956DYNC1H1 Gene Charcot-Marie-Tooth Disease, Axonal Type 20 NGS Genetic Test
- 3957NSDHL Gene CK Syndrome NGS Genetic Test
- 3958PMP22 Gene CMT1A NGS Genetic Test
- 3960MPZ Gene CMT1B NGS Genetic Test
- 3961AARS1 Gene CMT2N NGS Genetic Test
- 3963EGR2 Gene CMT1D NGS Genetic Test
- 3967EGR2 Gene CMT4E NGS Genetic Test
- 3968FGD4 Gene CMT4H NGS Genetic Test
- 3970GNB4 Gene CMTDIF NGS Genetic Test
- 3971GJB1 Gene CMTX1 NGS Genetic Test
- 3972HSPB8 Gene CMT2L NGS Genetic Test
- 3973COX6A1 Gene CMTRID NGS Genetic Test
- 3974GDAP1 Gene CMT2K NGS Genetic Test
- 3975AIFM1 Gene CMTX4 NGS Genetic Test
- 3976PRPS1 Gene CMTX5 NGS Genetic Test
- 3977Gene CMT4J NGS Genetic Test
- 3980CR1 Gene CR1 deficiency NGS Genetic Test
- 3981CFL1 Gene Corticobasal Degeneration, CFL1 related NGS Genetic Test
- 3983CNTNAP2 Gene Cortical dysplasia-focal epilepsy syndrome NGS Genetic Test
- 3984CAV3 Gene Creatine phosphokinase, elevated serum NGS Genetic Test
- 3986IGBP1 Gene Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia NGS Genetic Test
- 3988TMCO1 Gene Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NGS Genetic Test
- 3989MT-CO1 Gene Cytochrome c oxidase 1 deficiency NGS Genetic Test
- 3990MT-CO3 Gene Cytochrome c oxidase 3 deficiency NGS Genetic Test
- 3992MPZ Gene Dejerine-Sottas disease NGS Genetic Test
- 3993GJB1 Gene Dejerine-Sottas disease NGS Genetic Test
- 3994ITM2B Gene Dementia, familial, British type NGS Genetic Test
- 3995LAMP2 Gene Danon disease NGS Genetic Test
- 3996EGR2 Gene Dejerine-Sottas disease NGS Genetic Test
- 3997GRN Gene Dementia, frontotemporal NGS Genetic Test
- 3999PMP22 Gene Dejerine-Sottas disease NGS Genetic Test
- 4002TARDBP Gene Dementia, frontotemporal NGS Genetic Test
- 4003PRX Gene Dejerine-Sottas disease NGS Genetic Test
- 4006SNCA Gene Dementia, Lewy body NGS Genetic Test
- 4007SLC1A4 Gene Developmental delay and microcephaly, SLC1A4 related NGS Genetic Test
- 4009DNM2 Gene DI-CMTB NGS Genetic Test
- 4010YARS1 Gene DI-CMTC NGS Genetic Test
- 4011MPZ Gene DI-CMTD NGS Genetic Test
- 4013FRRS1L Gene Dysautonomia, FRRS1L-related NGS Genetic Test
- 4014KMT2C Gene Developmental delay, KMT2C related NGS Genetic Test
- 4017SCN2A Gene Dravet syndrome NGS Genetic Test
- 4018ACTB Gene Dystonia juvenile-onset NGS Genetic Test
- 4020PCDH11X Gene Dyslexia NGS Genetic Test
- 4021GABRG2 Gene Dravet syndrome NGS Genetic Test
- 4022TUBB4A Gene DYT4 NGS Genetic Test
- 4023THAP1 Gene DYT6 NGS Genetic Test
- 4024KCNB1 Gene Early infantile epileptic encephalopathy type 26 NGS Genetic Test
- 4026GCH1 Gene DYT5A NGS Genetic Test
- 4027DNM1 Gene Early infantile epileptic encephalopathy type 31 NGS Genetic Test
- 4028TAF1 Gene DYT3 NGS Genetic Test
- 4029SCN2A Gene Early infantile epileptic encephalopathy type 11 NGS Genetic Test
- 4031KCNA2 Gene Early infantile epileptic encephalopathy type 32 NGS Genetic Test
- 4034EEF1A2 Gene Early infantile epileptic encephalopathy type 33 NGS Genetic Test
- 4036STXBP1 Gene Early infantile epileptic encephalopathy type 4 NGS Genetic Test
- 4037SLC13A5 Gene Early infantile epileptic encephalopathy type 25 NGS Genetic Test
- 4039GABRB1 Gene Early infantile epileptic encephalopathy type 45 NGS Genetic Test
- 4040CUX2 Gene Early infantile epileptic encephalopathy type 67 NGS Genetic Test
- 4041SPTAN1 Gene Early infantile epileptic encephalopathy type 5 NGS Genetic Test
- 4042KCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic Test
- 4043EMD Gene Emery-Dreifuss muscular dystrophy type 1 NGS Genetic Test
- 4044SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic Test
- 4045SCN1A Gene Early infantile epileptic encephalopathy type 6 NGS Genetic Test
- 4047FHL1 Gene Emery-Dreifuss muscular dystrophy type 6 NGS Genetic Test
- 4048PCDH19 Gene Early infantile epileptic encephalopathy type 9 NGS Genetic Test
- 4049MT-TL2 Gene Encephalomyopathy, mitochondrial, MT-TL2 related NGS Genetic Test
- 4050SYNE2 Gene Emery-Dreifuss muscular dystrophy type 5 NGS Genetic Test
- 4051LMNA Gene Emery-Dreifuss muscular dystrophy type 2 NGS Genetic Test
- 4053DNM1L Gene Encephalopathy lethal, due to defective mitochondrial peroxisomal fission NGS Genetic Test
- 4054VDAC1 Gene Encephalopathy mitochondrial NGS Genetic Test
- 4055SLC19A3 Gene Encephalopathy thiamine-responsive NGS Genetic Test
- 4057MECP2 Gene Encephalopathy neonatal severe NGS Genetic Test
- 4058TRAF3 Gene Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 NGS Genetic Test
- 4059SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies NGS Genetic Test
- 4060MT-TW Gene Encephalopathy mitochondrial, MT-TW related NGS Genetic Test
- 4061RANBP2 Gene Encephalopathy, acute, necrotizing, type 1 NGS Genetic Test
- 4062GRIN2A Gene Epilepsy with neurodevelopmental defects NGS Genetic Test
- 4063COLQ Gene Endplate acetylcholinesterase deficiency NGS Genetic Test
- 4064GABRG2 Gene Epilepsy, childhood absence type 2 NGS Genetic Test
- 4065DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic Test
- 4067PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy NGS Genetic Test
- 4069COX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency NGS Genetic Test
- 4070GABRB3 Gene Epilepsy, childhood absence type 5 NGS Genetic Test
- 4071RELN Gene Epilepsy, familial temporal lobe type 7 NGS Genetic Test
- 4073CPA6 Gene Epilepsy, familial temporal lobe type 5 NGS Genetic Test
- 4075GABRD Gene Epilepsy, idiopathic generalized type 10 NGS Genetic Test
- 4076SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome NGS Genetic Test
- 4077LGI1 Gene Epilepsy, familial temporal lobe type 1 NGS Genetic Test
- 4078CLCN2 Gene Epilepsy, idiopathic generalized type 11 NGS Genetic Test
- 4079SLC2A1 Gene Epilepsy, idiopathic generalized type 12 NGS Genetic Test
- 4081CHRNA4 Gene Epilepsy, nocturnal frontal lobe type 1 NGS Genetic Test
- 4082KCNT1 Gene Epilepsy, nocturnal frontal lobe NGS Genetic Test
- 4084CHRNB2 Gene Epilepsy, nocturnal frontal lobe type 3 NGS Genetic Test
- 4085EFHC1 Gene Epilepsy, juvenile absence type 1 NGS Genetic Test
- 4086SYN1 Gene Epilepsy, X-linked, with learning disabilities and behavior disorders NGS Genetic Test
- 4088MAPK10 Gene Epileptic encephalopathy, Lennox-Gastaut type NGS Genetic Test
- 4089PRICKLE2 Gene Epilepsy, progressive myoclonic type 5 NGS Genetic Test
- 4090CHRNA2 Gene Epilepsy, nocturnal frontal lobe type 4 NGS Genetic Test
- 4091KCNC1 Gene Epilepsy, progressive myoclonic type 7 NGS Genetic Test
- 4092KCNA1 Gene Episodic ataxia type 1 NGS Genetic Test
- 4094CACNB4 Gene Episodic ataxia type 5 NGS Genetic Test
- 4095CACNA1A Gene Episodic ataxia type 2 NGS Genetic Test
- 4096SCN10A Gene Episodic pain syndrome type 2, familial NGS Genetic Test
- 4098SCN1A Gene Generalized epilepsy with febrile seizures plus type 2 NGS Genetic Test
- 4099PRNP Gene Gerstmann-Straussler disease NGS Genetic Test
- 4100GAN Gene Giant axonal neuropathy type 1 NGS Genetic Test
- 4101ITPR1 Gene Gillespie syndrome NGS Genetic Test
- 4102AMT Gene Glycine encephalopathy NGS Genetic Test
- 4103SLC2A1 Gene GLUT1 deficiency syndrome type 1 NGS Genetic Test
- 4104MGAT2 Gene Glycosylation disorde type 2A NGS Genetic Test
- 4105GCSH Gene Glycine encephalopathy NGS Genetic Test
- 4106GABRG2 Gene Generalized epilepsy with febrile seizures plus type 3 NGS Genetic Test
- 4107SLC35C1 Gene Glycosylation disorde type 2C NGS Genetic Test
- 4108DPM1 Gene Glycosylation disorder type 1E NGS Genetic Test
- 4109ALG6 Gene Glycosylation disorder type 1C NGS Genetic Test
- 4110DOLK Gene Glycosylation disorder type 1M NGS Genetic Test
- 4112RAB27A Gene Griscelli syndrome type 2 NGS Genetic Test
- 4113COG7 Gene Glycosylation disorder type 2E NGS Genetic Test
- 4114COG1 Gene Glycosylation disorder type 2G NGS Genetic Test
- 4115SLC35A1 Gene Glycosylation disorder type 2F NGS Genetic Test
- 4116GLB1 Gene GM1-gangliosidosis NGS Genetic Test
- 4117B4GALT1 Gene Glycosylation disorder type 2D NGS Genetic Test
- 4118TTN Gene Hereditary myopathy with early respiratory failure NGS Genetic Test
- 4120RNF39 Gene Hippocampal longterm potentiation, RFN39 related NGS Genetic Test
- 4121DKC1 Gene Hoyeraal-Hreidarsson syndrome NGS Genetic Test
- 4122COG8 Gene Glycosylation disorder type 2H NGS Genetic Test
- 4124SPTLC1 Gene HSAN1 NGS Genetic Test
- 4125RNF216 Gene Gordon Holmes Syndrome NGS Genetic Test
- 4127TFG Gene Hereditary motor and sensory neuropathy, Okinawa type NGS Genetic Test
- 4128NTRK1 Gene HSAN4 NGS Genetic Test
- 4129RETREG1 Gene HSAN2B NGS Genetic Test
- 4130PRDM12 Gene HSAN8 NGS Genetic Test
- 4133KIF1A Gene HSN2C NGS Genetic Test
- 4134JPH3 Gene Huntington disease-like type 2 NGS Genetic Test
- 4135PRNP Gene Huntington disease-like type 1 NGS Genetic Test
- 4136L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic Test
- 4138SLC6A5 Gene Hyperekplexia NGS Genetic Test
- 4139ARX Gene Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 NGS Genetic Test
- 4140MPDZ Gene Hydrocephalus, nonsyndromic, autosomal recessive type 2 NGS Genetic Test
- 4141GLRB Gene Hyperekplexia NGS Genetic Test
- 4143ARHGEF9 Gene Hyperekplexia, EIEE8 related NGS Genetic Test
- 4144GNE Gene Inclusion body myopathy NGS Genetic Test
- 4145CCDC88C Gene Hydrocephalus, nonsyndromic, autosomal recessive type 1 NGS Genetic Test
- 4146SCN4A Gene Hyperkalemic periodic paralysis NGS Genetic Test
- 4147GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic Test
- 4149CIC Gene Intellectual disability nonsyndromic, CIC related NGS Genetic Test
- 4150PLA2G6 Gene Infantile neuroaxonal dystrophy type 1 NGS Genetic Test
- 4152MYH2 Gene Inclusion body myopathy NGS Genetic Test
- 4153SCN9A Gene Insensitivity to pain, channelopathy-associated NGS Genetic Test
- 4154CC2D2A Gene Joubert syndrome type 9 NGS Genetic Test
- 4155ARL13B Gene Joubert syndrome type 8 NGS Genetic Test
- 4156EXOSC8 Gene Joubert syndrome, EXOSC8 related NGS Genetic Test
- 4157FAM111A Gene Kenny-Caffey syndrome type 2 NGS Genetic Test
- 4159EXOC8 Gene Joubert syndrome, EXOC8 related NGS Genetic Test
- 4160KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test
- 4161BCS1L Gene Leigh syndrome NGS Genetic Test
- 4163NDUFA10 Gene Leigh syndrome NGS Genetic Test
- 4164ROGDI Gene Kohlschutter Tonz syndrome NGS Genetic Test
- 4165NDUFA2 Gene Leigh syndrome NGS Genetic Test
- 4167NDUFAF1 Gene Leigh syndrome NGS Genetic Test
- 4168NDUFA9 Gene Leigh syndrome NGS Genetic Test
- 4169NDUFAF2 Gene Leigh syndrome NGS Genetic Test
- 4170NDUFS7 Gene Leigh syndrome NGS Genetic Test
- 4172NDUFS4 Gene Leigh syndrome NGS Genetic Test
- 4173NUBPL Gene Leigh syndrome NGS Genetic Test
- 4174NDUFAF6 Gene Leigh syndrome NGS Genetic Test
- 4176NDUFS8 Gene Leigh syndrome NGS Genetic Test
- 4177ACAD9 Gene Leigh syndrome and mitochondrial encephalopathy NGS Genetic Test
- 4178MT-ND5 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
- 4179MT-ND3 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
- 4180SDHA Gene Leigh syndrome NGS Genetic Test
- 4181FOXRED1 Gene Leigh syndrome NGS Genetic Test
- 4182SURF1 Gene Leigh syndrome due to COX deficiency NGS Genetic Test
- 4184NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
- 4185TACO1 Gene Leigh syndrome due to the mitochondrial complex IV deficiency NGS Genetic Test
- 4186PC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic Test
- 4187LRPPRC Gene Leigh syndrome, French-Canadian type NGS Genetic Test
- 4188LIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related NGS Genetic Test
- 4189GJC2 Gene Leukodystrophy hypomyelinating NGS Genetic Test
- 4190AIMP1 Gene Leukodystrophy hypomyelinating type 3 NGS Genetic Test
- 4193HPRT1 Gene Lesch-Nyham syndrome NGS Genetic Test
- 4194LMNB1 Gene Leukodystrophy demyelinating adult-onset, autosomal dominant NGS Genetic Test
- 4195FAM126A Gene Leukodystrophy hypomyelinating type 5 NGS Genetic Test
- 4196TUBB4A Gene Leukodystrophy hypomyelinating type 6 NGS Genetic Test
- 4197POLR3B Gene Leukodystrophy hypomyelinating type 8 NGS Genetic Test
- 4198POLR3A Gene Leukodystrophy hypomyelinating type 7 NGS Genetic Test
- 4199SGCB Gene Limb-girdle muscular dystrophy, autosomal recessive type 2E NGS Genetic Test
- 4200DYSF Gene Limb-girdle muscular dystrophy, autosomal recessive type 2B NGS Genetic Test
- 4201RARS Gene Leukodystrophy hypomyelinating type 9 NGS Genetic Test
- 4203DARS2 Gene Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation NGS Genetic Test
- 4204AARS2 Gene Leukoencephalopathy, progressive, with ovarian failure NGS Genetic Test
- 4207POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2K NGS Genetic Test
- 4208TRIM32 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2H NGS Genetic Test
- 4210POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic Test
- 4212ANO5 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2L NGS Genetic Test
- 4214DCX Gene Lissencephaly/Subcortical laminal heteropia, X-linked NGS Genetic Test
- 4215MLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts NGS Genetic Test
- 4217XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic Test
- 4219MECP2 Gene Mental retardation X-linked, syndromic, Lubs type NGS Genetic Test
- 4220FOXP1 Gene Mental retardation with language impairment and autistic features NGS Genetic Test
- 4221FLNA Gene Melnick-Needles syndrome NGS Genetic Test
- 4222MBD5 Gene Mental retardation, autosomal dominant type 1 NGS Genetic Test
- 4223SOBP Gene Mental retardation, anterior maxillary protrusion, and strabismus NGS Genetic Test
- 4224SMARCA1 Gene Mental retardation X-linked, SMARCA1 related NGS Genetic Test
- 4227ARID1A Gene Mental retardation, autosomal dominant type 14 NGS Genetic Test
- 4228DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
- 4229ARID1B Gene Mental retardation, autosomal dominant type 12 NGS Genetic Test
- 4230SMARCA4 Gene Mental retardation, autosomal dominant type 16 NGS Genetic Test
- 4231SMARCB1 Gene Mental retardation, autosomal dominant type 15 NGS Genetic Test
- 4232TRAPPC9 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
- 4234CTNNB1 Gene Mental retardation, autosomal dominant type 19 NGS Genetic Test
- 4235MEF2C Gene Mental retardation, autosomal dominant type 20 NGS Genetic Test
- 4236GATAD2B Gene Mental retardation, autosomal dominant type 18 NGS Genetic Test
- 4237DOCK8 Gene Mental retardation, autosomal dominant type 2 NGS Genetic Test
- 4239CDH15 Gene Mental retardation, autosomal dominant type 3 NGS Genetic Test
- 4240POGZ Gene Mental retardation, autosomal dominant type 37 NGS Genetic Test
- 4241SETD5 Gene Mental retardation, autosomal dominant type 23 NGS Genetic Test
- 4243SOX11 Gene Mental retardation, autosomal dominant type 27 NGS Genetic Test
- 4245PURA Gene Mental retardation, autosomal dominant type 31 NGS Genetic Test
- 4246EEF1A2 Gene Mental retardation, autosomal dominant type 38 NGS Genetic Test
- 4247ADNP Gene Mental retardation, autosomal dominant type 28 NGS Genetic Test
- 4248KAT6A Gene Mental retardation, autosomal dominant type 32 NGS Genetic Test
- 4250DYRK1A Gene Mental retardation, autosomal dominant type 7 NGS Genetic Test
- 4253ST3GAL3 Gene Mental retardation, autosomal recessive type 12 NGS Genetic Test
- 4254PRSS12 Gene Mental retardation, autosomal recessive type 1 NGS Genetic Test
- 4255LINS1 Gene Mental retardation, autosomal recessive type 27 NGS Genetic Test
- 4256CRBN Gene Mental retardation, autosomal recessive type 2 NGS Genetic Test
- 4257MAN1B1 Gene Mental retardation, autosomal recessive type 15 NGS Genetic Test
- 4258CC2D1A Gene Mental retardation, autosomal recessive type 3 NGS Genetic Test
- 4260ADAT3 Gene Mental retardation, autosomal recessive type 36 NGS Genetic Test
- 4261TECR Gene Mental retardation, autosomal recessive type 14 NGS Genetic Test
- 4262ANK3 Gene Mental retardation, autosomal recessive type 37 NGS Genetic Test
- 4263TTI2 Gene Mental retardation, autosomal recessive type 39 NGS Genetic Test
- 4264KPTN Gene Mental retardation, autosomal recessive type 41 NGS Genetic Test
- 4265TAF2 Gene Mental retardation, autosomal recessive type 40 NGS Genetic Test
- 4266MED23 Gene Mental retardation, autosomal recessive type 18 NGS Genetic Test
- 4267PGAP1 Gene Mental retardation, autosomal recessive type 42 NGS Genetic Test
- 4268ARX Gene Mental retardation, X-linked type 29 NGS Genetic Test
- 4269NDST1 Gene Mental retardation, autosomal recessive type 46 NGS Genetic Test
- 4270RPS6KA3 Gene Mental retardation, X-linked type 19 NGS Genetic Test
- 4271GPT2 Gene Mental retardation, autosomal recessive type 49 NGS Genetic Test
- 4272HCFC1 Gene Mental retardation, X-linked type 3 NGS Genetic Test
- 4274PAK3 Gene Mental retardation, X-linked type 30 NGS Genetic Test
- 4275IL1RAPL1 Gene Mental retardation, X-linked type 21 NGS Genetic Test
- 4276GDI1 Gene Mental retardation, X-linked type 41 NGS Genetic Test
- 4277FTSJ1 Gene Mental retardation, X-linked type 44 NGS Genetic Test
- 4278CLIC2 Gene Mental retardation, X-linked type 32 NGS Genetic Test
- 4283ACSL4 Gene Mental retardation, X-linked type 63 NGS Genetic Test
- 4284ZNF81 Gene Mental retardation, X-linked type 45 NGS Genetic Test
- 4286AGTR2 Gene Mental retardation, X-linked type 88, AGTR2 related NGS Genetic Test
- 4287MT-TS2 Gene MERRF/MELAS overlap syndrome, MT-TS2 related NGS Genetic Test
- 4288MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test
- 4289MT-TP Gene MERRF syndrome, MT-TP related NGS Genetic Test
- 4290PSAP Gene Metachromatic leukodystrophy due to Saposin B deficiency NGS Genetic Test
- 4291STAMBP Gene Microcephaly-capillary malformation syndrome NGS Genetic Test
- 4293MAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive NGS Genetic Test
- 4294MT-ND1 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4295ZDHHC15 Gene Mental retardation, X-linked type 91 NGS Genetic Test
- 4296MT-ND3 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4298DCC Gene Mirror movements type 1 NGS Genetic Test
- 4302NDUFAF3 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4304NDUFAF1 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4305NDUFB3 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4307MT-ND6 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4308NDUFA1 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4309FOXRED1 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4311NDUFS6 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4312NDUFS1 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4313NDUFV2 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4314NDUFS2 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4316MT-TN Gene Mitochondrial complex I deficiency, MT-TN related NGS Genetic Test
- 4317NDUFV1 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4318ATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 NGS Genetic Test
- 4319NDUFAF5 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4320MT-ATP6 Gene Mitochondrial complex V (ATP synthase) deficiency NGS Genetic Test
- 4321NDUFS4 Gene Mitochondrial complex I deficiency NGS Genetic Test
- 4322ATP5F1A Gene Mitochondrial complex V deficiency, nuclear type 4 NGS Genetic Test
- 4325TMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 NGS Genetic Test
- 4326DGUOK Gene Mitochondrial DNA depletion syndrome NGS Genetic Test
- 4328ATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 NGS Genetic Test
- 4329SUCLG1 Gene Mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria NGS Genetic Test
- 4330SDHA Gene Mitochondrial respiratory chain complex II deficiency NGS Genetic Test
- 4331MT-CYB Gene Mitochondrial encephalomyopathy NGS Genetic Test
- 4333DYSF Gene Miyoshi myopathy NGS Genetic Test
- 4334ANO5 Gene Miyoshi muscular dystrophy type 3 NGS Genetic Test
- 4335TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test
- 4336ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency NGS Genetic Test
- 4337TIMM21 Gene Mitochondrial respiratory chain disease, TIMM21 related NGS Genetic Test
- 4339PIGT Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 3 NGS Genetic Test
- 4340BOLA3 Gene Multiple mitochondrial dysfunctions syndrome type 2 NGS Genetic Test
- 4341POLG Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test
- 4342IBA57 Gene Multiple mitochondrial dysfunctions syndrome type 3 NGS Genetic Test
- 4343POMK Gene Muscle-eye-brain disease, POMK related NGS Genetic Test
- 4344ISCA2 Gene Multiple mitochondrial dysfunctions syndrome type 4 NGS Genetic Test
- 4345ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic Test
- 4346MSTN Gene Muscle hypertrophy NGS Genetic Test
- 4348LARGE1 Gene Muscular dystrophy type 1D NGS Genetic Test
- 4350CHKB Gene Muscular dystrophy, congenital, megaconial type NGS Genetic Test
- 4352PLEC Gene Muscular dystrophy, limb-girdle, type 2Q NGS Genetic Test
- 4354CAPN3 Gene Muscular dystrophy, limb-girdle type 2A NGS Genetic Test
- 4355PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic Test
- 4356RXYLT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 NGS Genetic Test
- 4357B4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 NGS Genetic Test
- 4361POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 NGS Genetic Test
- 4362POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2 NGS Genetic Test
- 4363POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 NGS Genetic Test
- 4367SCN4A Gene Myasthenic syndrome due to mutation in SCN4A NGS Genetic Test
- 4369GFPT1 Gene Myasthenia congenital with tubular aggregates 1 NGS Genetic Test
- 4370POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 NGS Genetic Test
- 4371FLNC Gene Myopathy, distal type 4 NGS Genetic Test
- 4372AGRN Gene Myasthenic syndrome, congenital NGS Genetic Test
- 4373CAV3 Gene Myopathy, distal, Tateyama type NGS Genetic Test
- 4374CHRNA1 Gene Myasthenic syndrome, congenital, slow-channel NGS Genetic Test
- 4376CHRNA1 Gene Myasthenic syndrome, congenital, fast channel NGS Genetic Test
- 4377CHAT Gene Myasthenic syndrome, congenital NGS Genetic Test
- 4378POMT2 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2 NGS Genetic Test
- 4379TTN Gene Myopathy, early-onset with fatal cardiomyopathy NGS Genetic Test
- 4380YARS2 Gene Myopathy, lactic acidosis, and sideroblastic anemia type 2 NGS Genetic Test
- 4381DES Gene Myopathy, myofibrillar, Desmin related NGS Genetic Test
- 4382MT-TQ Gene Myopathy, MT-TQ related NGS Genetic Test
- 4383MTAP Gene Myopathy, limb girdle with bone fragility NGS Genetic Test
- 4384BAG3 Gene Myopathy, myofibrillar type 6 NGS Genetic Test
- 4385GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NGS Genetic Test
- 4386LDB3 Gene Myopathy, myofibrillar, ZASP related NGS Genetic Test
- 4389MYH7 Gene Myosin storage myopathy NGS Genetic Test
- 4390CLCN1 Gene Myotonia congenita NGS Genetic Test
- 4391ACTA1 Gene Myopathy, scapulohumeroperoneal NGS Genetic Test
- 4392DMPK Gene Myotonic dystrophy type 1 NGS Genetic Test
- 4393CNBP Gene Myotonic dystrophy type 2 NGS Genetic Test
- 4394HCRT Gene Narcolepsy NGS Genetic Test
- 4395TPM2 Gene Nemaline myopathy type 4 NGS Genetic Test
- 4398TPM3 Gene Nemaline myopathy type 1 NGS Genetic Test
- 4399C19orf12 Gene Neurodegeneration with brain iron accumulation type 4 NGS Genetic Test
- 4400TNNT1 Gene Nemaline myopathy type 5 NGS Genetic Test
- 4401COASY Gene Neurodegeneration with brain iron accumulation type 6 NGS Genetic Test
- 4402BRAT1 Gene Neurodevelopmental disorder with cerebellar atrophy and with or without seizures NGS Genetic Test
- 4403GTPBP2 Gene Neurodegeneration with brain iron accumulation, GTPBP2 related NGS Genetic Test
- 4404KIF2A Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test
- 4405TUBG1 Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test
- 4406ZNF311 Gene Neurodevelopmental disorder, ZNF311 related NGS Genetic Test
- 4407KIF5C Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test
- 4408DES Gene Neurogenic scapuloperoneal syndrome, Kaeser type NGS Genetic Test
- 4409SPTBN5 Gene Neuronal migration disorder NGS Genetic Test
- 4410TUBB Gene Neurodevelopmental disorder, TUBB related NGS Genetic Test
- 4411MTOR Gene Neurodevelopmental disorder, MTOR related NGS Genetic Test
- 4417HINT1 Gene Neuromyotonia and axonal neuropathy, autosomal recessive NGS Genetic Test
- 4418SRGAP2 Gene Neuronal migration disorder NGS Genetic Test
- 4421DCTN1 Gene Neuronopathy distal hereditary motor type 7B NGS Genetic Test
- 4422GARS1 Gene Neuronopathy distal hereditary motor type 5 NGS Genetic Test
- 4425SPTLC2 Gene Neuropathy, hereditary sensory and autonomic type 1C NGS Genetic Test
- 4426CCT5 Gene Neuropathy, hereditary sensory, with spastic paraplegia NGS Genetic Test
- 4427PNPLA2 Gene Neutral lipid storage disease with myopathy NGS Genetic Test
- 4428DST Gene Neuropathy, hereditary sensory and autonomic type 6 NGS Genetic Test
- 4429ATL1 Gene Neuropathy, hereditary sensory, type 1D NGS Genetic Test
- 4430DNMT1 Gene Neuropathy sensor type 1E NGS Genetic Test
- 4432NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test
- 4436PANK2 Gene Pantothenate kinase-associated neurodegeneration NGS Genetic Test
- 4437OFD1 Gene Oral-facial-digital syndrome type 1 NGS Genetic Test
- 4438MID1 Gene Opitz G syndrome NGS Genetic Test
- 4440SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic Test
- 4441ATP7A Gene Occipital horn syndrome NGS Genetic Test
- 4442MT-TT Gene Parkinson disease, susceptibility to, MT-TT related NGS Genetic Test
- 4443GBA Gene Parkinson disease, late-onset, susceptibility to NGS Genetic Test
- 4444ATP6AP2 Gene Parkinsonism with spasticity, X-linked NGS Genetic Test
- 4445PNKD Gene Paroxysmal nonkinesigenic dyskinesia NGS Genetic Test
- 4446SOX10 Gene Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease NGS Genetic Test
- 4447SLC6A3 Gene Parkinsonism-Dystonia, infantile NGS Genetic Test
- 4448SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic Test
- 4450SLC2A1 Gene Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia NGS Genetic Test
- 4451ARFGEF2 Gene Periventricular heterotopia with microcephaly NGS Genetic Test
- 4452ARX Gene Partington syndrome NGS Genetic Test
- 4454PEX11B Gene Peroxisome biogenesis disorder 14B NGS Genetic Test
- 4456HSD17B4 Gene Perrault syndrome NGS Genetic Test
- 4457PSEN1 Gene Pick disease NGS Genetic Test
- 4458LARS2 Gene Perrault syndrome type 4 NGS Genetic Test
- 4460TWNK Gene Perrault syndrome type 5 NGS Genetic Test
- 4461HARS2 Gene Perrault syndrome type 2 NGS Genetic Test
- 4462TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test
- 4463PGK1 Gene Phosphoglycerate kinase 1 deficiency NGS Genetic Test
- 4464TYROBP Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test
- 4465EXOSC3 Gene Pontocerebellar hypoplasia type 1B NGS Genetic Test
- 4466RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency NGS Genetic Test
- 4467PEX5 Gene Peroxisome biogenesis disorder type 2A NGS Genetic Test
- 4468TSEN54 Gene Pontocerebellar hypoplasia type 2A NGS Genetic Test
- 4470NR2E1 Gene Polymicrogyria bilateral occipital NGS Genetic Test
- 4471TSEN34 Gene Pontocerebellar hypoplasia type 2C NGS Genetic Test
- 4473TSEN54 Gene Pontocerebellar hypoplasia type 4 NGS Genetic Test
- 4474VRK1 Gene Pontocerebellar hypoplasia type 1A NGS Genetic Test
- 4475CHMP1A Gene Pontocerebellar hypoplasia type 8 NGS Genetic Test
- 4476VPS53 Gene Pontocerebellar hypoplasia type 2E NGS Genetic Test
- 4477SEPSECS Gene Pontocerebellar hypoplasia type 2D NGS Genetic Test
- 4478RARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic Test
- 4479CLP1 Gene Pontocerebellar hypoplasia, type 10 NGS Genetic Test
- 4480TSEN54 Gene Pontocerebellar hypoplasia type 5 NGS Genetic Test
- 4481COL4A2 Gene Porencephaly type 2 NGS Genetic Test
- 4483chr. 15q11 Gene Prader-Willi syndrome NGS Genetic Test
- 4484SCN4A Gene Potassium-aggravated myotonia NGS Genetic Test
- 4488SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant NGS Genetic Test
- 4489SNRPN Gene Prader-Willi syndrome NGS Genetic Test
- 4490RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive NGS Genetic Test
- 4494CALR Gene Schizophrenia, CALR related NGS Genetic Test
- 4495PRICKLE1 Gene Progressive myoclonus epilepsy type 1A NGS Genetic Test
- 4496TH Gene Segawa syndrome, autosomal recessive NGS Genetic Test
- 4497KCNQ2 Gene Seizures, benign neonatal, type 1 NGS Genetic Test
- 4498HSPG2 Gene Schwartz-Jampel syndrome type 1 NGS Genetic Test
- 4499PRRT2 Gene Seizures, benign familial infantile, type 2 NGS Genetic Test
- 4500CELSR2 Gene Schizophrenia, CELSR2 related NGS Genetic Test
- 4501KCNJ10 Gene SESAME syndrome NGS Genetic Test
- 4503GPC3 Gene Simpson-Golabi-Behmel syndrome type 1 NGS Genetic Test
- 4504RAI1 Gene Smith-Magenis syndrome NGS Genetic Test
- 4505ARHGEF10 Gene Slowed nerve conduction velocity, autosomanal dominant NGS Genetic Test
- 4507KIF1C Gene Spastic ataxia type 2, autosomal recessive NGS Genetic Test
- 4508MARS2 Gene Spastic ataxia type 3, autosomal recessive NGS Genetic Test
- 4509VAMP1 Gene Spastic ataxia type 1, autosomal dominant NGS Genetic Test
- 4510ALS2 Gene Spastic paralysis, infantile onset ascending NGS Genetic Test
- 4511AFG3L2 Gene Spastic ataxia type 5, autosomal recessive NGS Genetic Test
- 4512SPG11 Gene SPG11 NGS Genetic Test
- 4513IBA57 Gene Spastic paraplegia type 74, autosomal recessive NGS Genetic Test
- 4514MTPAP Gene Spastic ataxia type 4, autosomal recessive NGS Genetic Test
- 4516SACS Gene Spastic ataxia Charlevoix-Saguenay type NGS Genetic Test
- 4518HSPD1 Gene SPG13 NGS Genetic Test
- 4519KIF5A Gene SPG10 NGS Genetic Test
- 4520RTN2 Gene SPG12 NGS Genetic Test
- 4521ZFYVE26 Gene SPG15 NGS Genetic Test
- 4522PLP1 Gene SPG2 NGS Genetic Test
- 4524BSCL2 Gene SPG17 NGS Genetic Test
- 4525SPART Gene SPG20 NGS Genetic Test
- 4529KIF1A Gene SPG30 NGS Genetic Test
- 4530PNPLA6 Gene SPG39 NGS Genetic Test
- 4533ZFYVE27 Gene SPG33 NGS Genetic Test
- 4534SLC33A1 Gene SPG42 NGS Genetic Test
- 4535GJC2 Gene SPG44 NGS Genetic Test
- 4536NT5C2 Gene SPG45 NGS Genetic Test
- 4537SPAST Gene SPG4 NGS Genetic Test
- 4540AP5Z1 Gene SPG48 NGS Genetic Test
- 4541AP4M1 Gene SPG50 NGS Genetic Test
- 4543ATL1 Gene SPG3A NGS Genetic Test
- 4544TECPR2 Gene SPG49 NGS Genetic Test
- 4545REEP1 Gene SPG31 NGS Genetic Test
- 4546AP4E1 Gene SPG51 NGS Genetic Test
- 4549ZNF41 Gene Mental retardation, X-linked type 89 NGS Genetic Test
- 4550COL6A1 Gene Bethlem Myopathy NGS Genetic Test
- 4551SMN1 Gene Spinal muscular atrophy type 3 NGS Genetic Test
- 4555SLC17A5 Gene Sialuria, finish type NGS Genetic Test
- 4558BICD2 Gene Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 NGS Genetic Test
- 4561DYNC1H1 Gene Spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant NGS Genetic Test
- 4562ATP2B3 Gene Spinocerebellar ataxia type 1, X-linked NGS Genetic Test
- 4563ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic Test
- 4565ATXN1 Gene Spinocerebellar ataxia type 1, autosomal dominant NGS Genetic Test
- 4566ATXN10 Gene Spinocerebellar ataxia type 10, autosomal dominant NGS Genetic Test
- 4567ANO10 Gene Spinocerebellar ataxia type 10, autosomal recessive NGS Genetic Test
- 4570TMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant NGS Genetic Test
- 4571GRID2 Gene Spinocerebellar ataxia type 18, autosomal recessive NGS Genetic Test
- 4573ATXN2 Gene Spinocerebellar ataxia type 2, autosomal dominant NGS Genetic Test
- 4574PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant NGS Genetic Test
- 4575SPTBN2 Gene Spinocerebellar ataxia type 5, autosomal dominant NGS Genetic Test
- 4577TGM6 Gene Spinocerebellar ataxia type 35, autosomal dominant NGS Genetic Test
- 4580ATXN7 Gene Spinocerebellar ataxia type 7, autosomal dominant NGS Genetic Test
- 4584SHROOM4 Gene Stocco dos Santos X-linked mental retardation syndrome NGS Genetic Test
- 4585TWNK Gene Spinocerebellar ataxia, infantile-onset NGS Genetic Test
- 4586PDE8B Gene Striatal degeneration NGS Genetic Test
- 4587SLC25A19 Gene Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type NGS Genetic Test
- 4588CACNA1S Gene Thyrotoxic periodic paralysis type 1 NGS Genetic Test
- 4589TTN Gene Tibial muscular dystrophy, tardive NGS Genetic Test
- 4591FUS Gene Tremor essential type 4 NGS Genetic Test
- 4592KCNJ18 Gene Thyrotoxic periodic paralysis type 2 NGS Genetic Test
- 4593DRD3 Gene Tremor, sssential type 1, hereditary NGS Genetic Test
- 4594TSC1 Gene Tuberous sclerosis NGS Genetic Test
- 4595COL6A1 Gene Ullrich congenital muscular dystrophy NGS Genetic Test
- 4597COL6A2 Gene Ullrich congenital muscular dystrophy NGS Genetic Test
- 4598COL6A3 Gene Ullrich congenital muscular dystrophy type 1 NGS Genetic Test
- 4600COL12A1 Gene Ullrich congenital muscular dystrophy type 2 NGS Genetic Test
- 4605EDNRB Gene Waardenburg syndrome/Hirschsprung disease NGS Genetic Test
- 4608FKTN Gene Walker-Warburg syndrome NGS Genetic Test
- 4610WDR27 Gene WDR27-related brain disorders NGS Genetic Test
- 4611ZC4H2 Gene Wieacker-Wolff syndrome NGS Genetic Test
- 4612CYP17A1 Gene 17-hydroxylation activity deficiency NGS Genetic Test
- 4613LAS1L Gene Wilson-Turner syndrome NGS Genetic Test
- 4616ACADSB Gene 2-methylbutyrylglycinuria NGS Genetic Test
- 4617DHTKD1 Gene 2-aminoadipic 2-oxoadipic aciduria NGS Genetic Test
- 4618HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic Test
- 4619HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic Test
- 4621HADH Gene 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic Test
- 4623MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency NGS Genetic Test
- 4624AUH Gene 3-methylglutaconic aciduria type 1 NGS Genetic Test
- 4625OPA3 Gene 3-methylglutaconic aciduria type 3 NGS Genetic Test
- 4626CLPB Gene 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia NGS Genetic Test
- 4627DNAJC19 Gene 3-methylglutaconic aciduria type 5 NGS Genetic Test
- 4628SBDS Gene Aplastic anemia, SBDS related NGS Genetic Test
- 4629PRF1 Gene Aplastic anemia NGS Genetic Test
- 4630MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic Test
- 4631APOA2 Gene Apolipoprotein A-II deficiency NGS Genetic Test
- 4632AMPD3 Gene AMP deaminase deficiency, erythrocytic NGS Genetic Test
- 4633APOC2 Gene Apolipoprotein C-II deficiency NGS Genetic Test
- 4634ARG1 Gene Arginase deficiency NGS Genetic Test
- 4635GATM Gene Arginine-glycine amidinotransferase deficiency NGS Genetic Test
- 4637DDC Gene Aromatic L-amino acid decarboxylase deficiency (AADC) NGS Genetic Test
- 4638ASL Gene Argininosuccinic aciduria NGS Genetic Test
- 4639HSD11B2 Gene Apparent mineralocorticoid excess NGS Genetic Test
- 4641AGA Gene Aspartylglucosaminuria NGS Genetic Test
- 4643SLC10A2 Gene Bile acid malabsorption, primary NGS Genetic Test
- 4644CYP7B1 Gene Bile acid synthesis defect type 3, congenital NGS Genetic Test
- 4645AMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic Test
- 4646BCAT1 Gene Branched-chain aminotransferase 1 deficiency NGS Genetic Test
- 4649COMT Gene Catechol-o-methyltransferase deficiency NGS Genetic Test
- 4650LIPA Gene Cholesteryl ester storage disease NGS Genetic Test
- 4652COQ4 Gene Coenzyme Q10 deficiency type 7 NGS Genetic Test
- 4653ABCB1 Gene Colchicine resistance NGS Genetic Test
- 4654MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 NGS Genetic Test
- 4657SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria NGS Genetic Test
- 4658TRMT5 Gene Combined oxidative phosphorylation deficiency type 26 NGS Genetic Test
- 4659CTH Gene Cystathioninuria NGS Genetic Test
- 4661AVPR2 Gene Diabetes insipidus, nephrogenic, X-linked NGS Genetic Test
- 4662ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 NGS Genetic Test
- 4663IDH2 Gene D-2-hydroxyglutaric aciduria type 2 NGS Genetic Test
- 4664INS Gene Diabetes mellitus type 1 NGS Genetic Test
- 4665INSR Gene Diabetes mellitus, insulin-resistant with acanthosis nigricans NGS Genetic Test
- 4666AVP Gene Diabetes insipidus, neurohypophyseal NGS Genetic Test
- 4668ABCC8 Gene Diabetes mellitus, noninsulin-dependent NGS Genetic Test
- 4669GLIS3 Gene Diabetes mellitus, neonatal NGS Genetic Test
- 4671ABCC8 Gene Diabetes mellitus, permanent neonatal NGS Genetic Test
- 4672DMGDH Gene Dimethylglycine dehydrogenase deficiency NGS Genetic Test
- 4673KCNJ11 Gene Diabetes mellitus, noninsulin-dependent NGS Genetic Test
- 4676DYM Gene Dyggve-Melchior-Clausen disease NGS Genetic Test
- 4677LCAT Gene Fish eye disease NGS Genetic Test
- 4678TMPRSS15 Gene Enterokinase deficiency NGS Genetic Test
- 4680PALB2 Gene Fanconi anemia type N NGS Genetic Test
- 4683GBA Gene Gaucher disease, perinatal lethal NGS Genetic Test
- 4684GK Gene Glycerol kinase deficiency NGS Genetic Test
- 4686SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic Test
- 4688SUGCT Gene Glutaric aciduria type 3 NGS Genetic Test
- 4690ETFDH Gene Glutaric acidemia type 2C NGS Genetic Test
- 4696GPI Gene Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NGS Genetic Test
- 4699CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic Test
- 4700CETP Gene Hyperalphalipoproteinemia NGS Genetic Test
- 4701CA12 Gene Hyperchlorhidrosis, isolated NGS Genetic Test
- 4702BAAT Gene Hypercholanemia NGS Genetic Test
- 4703TJP2 Gene Hypercholanemia NGS Genetic Test
- 4707GNA11 Gene Hypocalcemia, autosomal dominant 2 NGS Genetic Test
- 4708ALPL Gene Hypophosphatasia, childhood NGS Genetic Test
- 4709AP2S1 Gene Hypocalciuric hypercalcemia, familial type 3 NGS Genetic Test
- 4710SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic Test
- 4711ALPL Gene Hypophosphatasia, infantile NGS Genetic Test
- 4712PCSK9 Gene Hypercholesterolemia autosomal dominant type 3 NGS Genetic Test
- 4715IVD Gene Isovaleric acidemia NGS Genetic Test
- 4716GALC Gene Krabbe disease NGS Genetic Test
- 4718ITGB1 Gene Leukocyte adhesion deficiency NGS Genetic Test
- 4720MCM6 Gene Lactose intolerance, adult type NGS Genetic Test
- 4721ITGB2 Gene Leukocyte adhesion deficiency NGS Genetic Test
- 4723INS Gene Maturity-onset diabetes of the young type 10 NGS Genetic Test
- 4724ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test
- 4726ZFP57 Gene Maturity-onset diabetes of the young, ZFP57 related NGS Genetic Test
- 4731GNPTG Gene Mucolipidosis type 3 gamma NGS Genetic Test
- 4732ESPN Gene Deafness, autosomal recessive type 36 NGS Genetic Test
- 4733HGF Gene Deafness, autosomal recessive type 39 NGS Genetic Test
- 4735FOXI1 Gene Deafness, autosomal recessive type 4 NGS Genetic Test
- 4737MARVELD2 Gene Deafness, autosomal recessive type 49 NGS Genetic Test
- 4738COL11A2 Gene Deafness, autosomal recessive type 53 NGS Genetic Test
- 4739PJVK Gene Deafness, autosomal recessive type 59 NGS Genetic Test
- 4741TMIE Gene Deafness, autosomal recessive type 6 NGS Genetic Test
- 4743LHFPL5 Gene Deafness, autosomal recessive type 67 NGS Genetic Test
- 4744MSRB3 Gene Deafness, autosomal recessive type 74 NGS Genetic Test
- 4745PNPT1 Gene Deafness, autosomal recessive type 70 NGS Genetic Test
- 4746SYNE4 Gene Deafness, autosomal recessive type 76 NGS Genetic Test
- 4747TMC1 Gene Deafness, autosomal recessive type 7 NGS Genetic Test
- 4748TMPRSS3 Gene Deafness, autosomal recessive type 8/10 NGS Genetic Test
- 4749DCDC2 Gene Deafness, autosomal recessive type 66 NGS Genetic Test
- 4750TPRN Gene Deafness, autosomal recessive type 79 NGS Genetic Test
- 4751LOXHD1 Gene Deafness, autosomal recessive type 77 NGS Genetic Test
- 4753KARS1 Gene Deafness, autosomal recessive type 89 NGS Genetic Test
- 4754OTOF Gene Deafness, autosomal recessive type 9 NGS Genetic Test
- 4755SERPINB6 Gene Deafness, autosomal recessive type 91 NGS Genetic Test
- 4756FGF3 Gene Deafness, congenital with inner ear agenesis, microtia, and microdontia NGS Genetic Test
- 4757CABP2 Gene Deafness, autosomal recessive type 93 NGS Genetic Test
- 4758BCAP31 Gene Deafness, dystonia, and cerebral hypomyelination, X-linked NGS Genetic Test
- 4759MT-RNR1 Gene Deafness, nonsyndromic, sensorineural, mitochondrial NGS Genetic Test
- 4762FLCN Gene Pneumothorax, primary spontaneous NGS Genetic Test
- 4763SMPX Gene Deafness, X-linked type 4 NGS Genetic Test
- 4764DNAI1 Gene Primary ciliary dyskinesia type 1 NGS Genetic Test
- 4765AIFM1 Gene Deafness, X-linked type 5 NGS Genetic Test
- 4766DNAAF2 Gene Primary ciliary dyskinesia type 10 NGS Genetic Test
- 4767RSPH9 Gene Primary ciliary dyskinesia type 12 NGS Genetic Test
- 4768DNAAF1 Gene Primary ciliary dyskinesia type 13 NGS Genetic Test
- 4769CCDC39 Gene Primary ciliary dyskinesia type 14 NGS Genetic Test
- 4770CCDC40 Gene Primary ciliary dyskinesia type 15 NGS Genetic Test
- 4771DNAL1 Gene Primary ciliary dyskinesia type 16 NGS Genetic Test
- 4773DNAAF5 Gene Primary ciliary dyskinesia type 18 NGS Genetic Test
- 4775RSPH4A Gene Primary ciliary dyskinesia type 11 NGS Genetic Test
- 4776LRRC6 Gene Primary ciliary dyskinesia type 19 NGS Genetic Test
- 4777ARMC4 Gene Primary ciliary dyskinesia type 23 NGS Genetic Test
- 4778CCDC114 Gene Primary ciliary dyskinesia type 20 NGS Genetic Test
- 4779RSPH1 Gene Primary ciliary dyskinesia type 24 NGS Genetic Test
- 4781CFAP298 Gene Primary ciliary dyskinesia type 26 NGS Genetic Test
- 4783CCDC65 Gene Primary ciliary dyskinesia type 27 NGS Genetic Test
- 4784DNAH5 Gene Primary ciliary dyskinesia type 3 NGS Genetic Test
- 4786NME8 Gene Primary ciliary dyskinesia type 6 NGS Genetic Test
- 4787DNAH11 Gene Primary ciliary dyskinesia type 7 NGS Genetic Test
- 4788DNAI2 Gene Primary ciliary dyskinesia type 9 NGS Genetic Test
- 4789DNAH9 Gene Primary ciliary dyskinesia, DNAH9 related NGS Genetic Test
- 4790HYDIN Gene Primary ciliary dyskinesia type 5 NGS Genetic Test
- 4791P2RX2 Gene Progressive hearing loss NGS Genetic Test
- 4792MITF Gene Tietz albinism-deafness syndrome NGS Genetic Test
- 4793SFTPA2 Gene Pulmonary fibrosis, idiopathic NGS Genetic Test
- 4794CACNA1D Gene Sinoatrial node dysfunction and deafness NGS Genetic Test
- 4795WFS1 Gene Wolfram syndrome type 1 NGS Genetic Test
- 4796CISD2 Gene Wolfram syndrome type 2 NGS Genetic Test
- 4797WFS1 Gene Wolfram-like syndrome, autosomal dominant NGS Genetic Test
- 4798Comprehensive Skin Panel NGS Genetic Test
- 4799Abnormal Mineralization Panel NGS Genetic Test
- 4801Connective Tissue and Related disorders Panel NGS Genetic Test
- 4802COLEC11 Gene 3MC syndrome type 2 NGS Genetic Test
- 4803TRIP11 Gene Achondrogenesis type 1A NGS Genetic Test
- 4804Comprehensive Immuno Panel NGS Genetic Test
- 4805COL2A1 Gene Achondrogenesis type 2 NGS Genetic Test
- 4806FGFR3 Gene Achondroplasia NGS Genetic Test
- 4807SLC26A2 Gene Achondrogenesis type 1B NGS Genetic Test
- 4809SLC39A4 Gene Acrodermatitis enteropathica NGS Genetic Test
- 4811SF3B4 Gene Acrofacial dysostosis 1, Nager type NGS Genetic Test
- 4813DOCK6 Gene Adams-Oliver syndrome type 2 NGS Genetic Test
- 4815RBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic Test
- 4816EOGT Gene Adams-Oliver syndrome type 4 NGS Genetic Test
- 4817SMARCAD1 Gene Adermatoglyphia NGS Genetic Test
- 4818SLC24A5 Gene Albinism, oculocutaneous nonsyndromic NGS Genetic Test
- 4819TYR Gene Albinism, oculocutaneous type 1A NGS Genetic Test
- 4820TYR Gene Albinism, oculocutaneous type 1B NGS Genetic Test
- 4821TYRP1 Gene Albinism, oculocutaneous type 3 NGS Genetic Test
- 4822OCA2 Gene Albinism, oculocutaneous type 2 NGS Genetic Test
- 4823LRMDA Gene Albinism, oculocutaneous type 7 NGS Genetic Test
- 4824SLC45A2 Gene Albinism, oculocutaneous type 4 NGS Genetic Test
- 4825HR Gene Alopecia universalis NGS Genetic Test
- 4827LAMB3 Gene Amelogenesis imperfecta type 1A NGS Genetic Test
- 4828ENAM Gene Amelogenesis imperfecta type 1C NGS Genetic Test
- 4829AMELX Gene Amelogenesis imperfecta type 1E NGS Genetic Test
- 4831FAM20A Gene Amelogenesis imperfecta type 1G NGS Genetic Test
- 4833KLK4 Gene Amelogenesis imperfecta type 2A1 NGS Genetic Test
- 4834MMP20 Gene Amelogenesis imperfecta type 2A2 NGS Genetic Test
- 4835WDR72 Gene Amelogenesis imperfecta type 2A3 NGS Genetic Test
- 4836SLC24A4 Gene Amelogenesis imperfecta type 2A5 NGS Genetic Test
- 4838C4orf26 Gene Amelogenesis imperfecta type 2A4 NGS Genetic Test
- 4839AMTN Gene Amelotin deficiency NGS Genetic Test
- 4840DLX3 Gene Amelogenesis imperfecta type 4 NGS Genetic Test
- 4841OSMR Gene Amyloidosis, primary localized cutaneous, type 1 NGS Genetic Test
- 4842IL31RA Gene Amyloidosis, primary localized cutaneous, type 2 NGS Genetic Test
- 4843MYH3 Gene Arthrogryposis, distal, type 2A NGS Genetic Test
- 4844TPM2 Gene Arthrogryposis, distal, type 1A NGS Genetic Test
- 4846MYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic Test
- 4847TNNI2 Gene Arthrogryposis, distal, type 2B NGS Genetic Test
- 4848TNNT3 Gene Arthrogryposis, distal, type 2B NGS Genetic Test
- 4849AIRE Gene Autoimmune polyendocrinopathy syndrome type 1 NGS Genetic Test
- 4850PRKCD Gene Autoimmune lymphoproliferative syndrome type 3 NGS Genetic Test
- 4851COL2A1 Gene Avascular necrosis of the femoral head, primary NGS Genetic Test
- 4853PSMB8 Gene Autoinflammation, lipodystroph and dermatosis syndrome NGS Genetic Test
- 4856CIITA Gene Bare lymphocyte syndrome, type 2, complementation group A NGS Genetic Test
- 4857FGFR2 Gene Bent bone dysplasia syndrome NGS Genetic Test
- 4858LEMD3 Gene Buschke-Ollendorff syndrome NGS Genetic Test
- 4861C2 Gene C2 deficiency NGS Genetic Test
- 4863RAG2 Gene Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive NGS Genetic Test
- 4864C7 Gene C7 deficiency NGS Genetic Test
- 4865C3 Gene C3 deficiency NGS Genetic Test
- 4866IL2RG Gene Combined immunodeficiency, X-linked, moderate NGS Genetic Test
- 4867NIPBL Gene Cornelia de Lange syndrome type 1 NGS Genetic Test
- 4868SMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic Test
- 4869FBN2 Gene Contractural arachnodactyly, congenital NGS Genetic Test
- 4870SMC3 Gene Cornelia de Lange syndrome type 3 NGS Genetic Test
- 4871RAD21 Gene Cornelia de Lange syndrome type 4 NGS Genetic Test
- 4872TMCO1 Gene Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NGS Genetic Test
- 4873HDAC8 Gene Cornelia de Lange syndrome type 5 NGS Genetic Test
- 4874FGFR2 Gene Craniofacial-skeletal-dermatologic dysplasia NGS Genetic Test
- 4875FGFR3 Gene Crouzon syndrome with acanthosis nigricans NGS Genetic Test
- 4876ATR Gene Cutaneous telangiectasia and cancer syndrome, familial NGS Genetic Test
- 4877FBLN5 Gene Cutis laxa type 1A, autosomal recessive NGS Genetic Test
- 4882ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive NGS Genetic Test
- 4883ELN Gene Cutis laxa, autosomal dominant NGS Genetic Test
- 4884PYCR1 Gene Cutis laxa type 3B, autosomal recessive NGS Genetic Test
- 4885DSPP Gene Dentin dysplasia, type 2 NGS Genetic Test
- 4886DSPP Gene Dentinogenesis imperfecta, Shields type 2 NGS Genetic Test
- 4887COL2A1 Gene Czech dysplasia NGS Genetic Test
- 4891FLG Gene Dermatitis, atopic type 2 NGS Genetic Test
- 4892GUCY2C Gene Diarrhea type 6 NGS Genetic Test
- 4893MYO5B Gene Diarrhea type 2 with microvillus atrophy NGS Genetic Test
- 4895NOP10 Gene Dyskeratosis congenita, autosomal recessive type 1 NGS Genetic Test
- 4898ABCB6 Gene Dyschromatosis universalis hereditaria type 3 NGS Genetic Test
- 4899PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic Test
- 4900ACD Gene Dyskeratosis congenita, autosomal recessive type 7 NGS Genetic Test
- 4902HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test
- 4904KRT85 Gene Ectodermal dysplasia type 4, hair/nail type NGS Genetic Test
- 4905GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test
- 4908EDA Gene Ectodermal dysplasia, hypohidrotic, X-linked NGS Genetic Test
- 4909COL5A1 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test
- 4910IKBKG Gene Ectodermal dysplasia, hypohidrotic, with immune deficiency NGS Genetic Test
- 4913TNXB Gene Ehlers-Danlos syndrome type 3 NGS Genetic Test
- 4914COL3A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test
- 4917COL5A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test
- 4918COL1A2 Gene Ehlers-Danlos syndrome type 7B NGS Genetic Test
- 4920FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NGS Genetic Test
- 4921ADAMTS2 Gene Ehlers-Danlos syndrome type 7C NGS Genetic Test
- 4922CHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic Test
- 4923B3GALT6 Gene Ehlers-Danlos syndrome, progeroid type, type 2 NGS Genetic Test
- 4925DSE Gene Ehlers-Danlos syndrome, musculocontractural type 2 NGS Genetic Test
- 4926B4GALT7 Gene Ehlers-Danlos syndrome, progeroid type 1 NGS Genetic Test
- 4927DSG1 Gene Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE NGS Genetic Test
- 4928GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test
- 4930COX4I2 Gene Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NGS Genetic Test
- 4932ERCC4 Gene Fanconi anemia, complementation group Q NGS Genetic Test
- 4933EXT2 Gene Exostoses, multiple, type 2 NGS Genetic Test
- 4934EXT1 Gene Exostoses, multiple, type 1 NGS Genetic Test
- 4935COL11A2 Gene Fibrochondrogenesis 2 NGS Genetic Test
- 4936ACVR1 Gene Fibrodysplasia ossificans progressiva NGS Genetic Test
- 4937COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test
- 4938PHOX2A Gene Fibrosis of extraocular muscles, congenital type 2 NGS Genetic Test
- 4939SRCAP Gene Floating-Harbor syndrome NGS Genetic Test
- 4940PORCN Gene Focal dermal hypoplasia NGS Genetic Test
- 4941SH3PXD2B Gene Frank-ter Haar syndrome NGS Genetic Test
- 4943ADAMTSL2 Gene Geleophysic dysplasia type 1 NGS Genetic Test
- 4944TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic Test
- 4947NCF1 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b- positive, type 1 NGS Genetic Test
- 4949NCF2 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 NGS Genetic Test
- 4950FAM111A Gene Gracile bone dysplasia NGS Genetic Test
- 4951LBR Gene Greenberg skeletal dysplasia NGS Genetic Test
- 4952CYBB Gene Granulomatous disease, chronic, X-linked NGS Genetic Test
- 4956PEX1 Gene Heimler syndrome type 1 NGS Genetic Test
- 4957PRF1 Gene Hemophagocytic lymphohistiocytosis type 2 NGS Genetic Test
- 4958CD59 Gene Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy NGS Genetic Test
- 4959UNC13D Gene Hemophagocytic lymphohistiocytosis type 3 NGS Genetic Test
- 4960STX11 Gene Hemophagocytic lymphohistiocytosis type 4 NGS Genetic Test
- 4961STXBP2 Gene Hemophagocytic lymphohistiocytosis type 5 NGS Genetic Test
- 4962CCBE1 Gene Hennekam lymphangiectasia-lymphedema syndrome type 1 NGS Genetic Test
- 4963SP110 Gene Hepatic venoocclusive disease with immunodeficiency NGS Genetic Test
- 4964SLC29A3 Gene Histiocytosis-lymphadenopathy plus syndrome NGS Genetic Test
- 4966STAT3 Gene Hyper-IgE recurrent infection syndrome NGS Genetic Test
- 4971FGFR3 Gene Hypochondroplasia NGS Genetic Test
- 4972SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic Test
- 4974ENPP1 Gene Hypophosphatemic rickets, autosomal recessive type 2 NGS Genetic Test
- 4975DMP1 Gene Hypophosphatemic rickets, autosomal recessive type 1 NGS Genetic Test
- 4976DSC3 Gene Hypotrichosis and recurrent skin vesicles NGS Genetic Test
- 4977PHEX Gene Hypophosphatemic rickets, X-linked NGS Genetic Test
- 4978APCDD1 Gene Hypotrichosis type 1 NGS Genetic Test
- 4979SNRPE Gene Hypotrichosis type 11 NGS Genetic Test
- 4980KRT71 Gene Hypotrichosis type 13 NGS Genetic Test
- 4981RPL21 Gene Hypotrichosis type 12 NGS Genetic Test
- 4983HR Gene Hypotrichosis type 4 NGS Genetic Test
- 4984KRT74 Gene Hypotrichosis type 3 NGS Genetic Test
- 4985DSG4 Gene Hypotrichosis type 6 NGS Genetic Test
- 4987LIPH Gene Hypotrichosis type 7 NGS Genetic Test
- 4988SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome NGS Genetic Test
- 4991ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic Test
- 4992PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic Test
- 4993SLC27A4 Gene Ichthyosis prematurity syndrome NGS Genetic Test
- 4995FLG Gene Ichthyosis vulgaris NGS Genetic Test
- 4996KRT2 Gene Ichthyosis, bullous type NGS Genetic Test
- 4997TGM1 Gene Ichthyosis, congenital, autosomal recessive type 1 NGS Genetic Test
- 4998ST14 Gene Ichthyosis, congenital, autosomal recessive, type 11 NGS Genetic Test
- 5001PNP Gene Immunodeficiency due to purine nucleoside phosphorylase deficiency NGS Genetic Test
- 5002CARD11 Gene Immunodeficiency type 11 NGS Genetic Test
- 5003PIK3CD Gene Immunodeficiency type 14 NGS Genetic Test
- 5004IKBKB Gene Immunodeficiency type 15 NGS Genetic Test
- 5007CD3E Gene Immunodeficiency type 18 NGS Genetic Test
- 5008GATA2 Gene Immunodeficiency type 21 NGS Genetic Test
- 5010LCK Gene Immunodeficiency type 22 NGS Genetic Test
- 5012IRF8 Gene Immunodeficiency type 32B, monocyte and dendritic cell deficiency, autosomal recessive NGS Genetic Test
- 5013CD40 Gene Immunodeficiency type 3, with hyper-IgM NGS Genetic Test
- 5014CTPS1 Gene Immunodeficiency type 24 NGS Genetic Test
- 5015IRF8 Gene Immunodeficiency type 32A, mycobacteriosis, autosomal dominant NGS Genetic Test
- 5016TYK2 Gene Immunodeficiency type 35 NGS Genetic Test
- 5017CYBB Gene Immunodeficiency type 34 NGS Genetic Test
- 5019PIK3R1 Gene Immunodeficiency type 36 NGS Genetic Test
- 5021RORC Gene Immunodeficiency type 42 NGS Genetic Test
- 5022UNG Gene Immunodeficiency type 5, with hyper IgM NGS Genetic Test
- 5023IKBKG Gene Immunodeficiency, isolated NGS Genetic Test
- 5024CORO1A Gene Immunodeficiency type 8 NGS Genetic Test
- 5025CD40LG Gene Immunodeficiency, X-linked with hyper-IgM NGS Genetic Test
- 5026DNMT3B Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 NGS Genetic Test
- 5027FOXP3 Gene Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked NGS Genetic Test
- 5029ZBTB24 Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 NGS Genetic Test
- 5030PICALM Gene Immunological disorder, PICALM related NGS Genetic Test
- 5032IL2RA Gene Interleukin 2 receptor deficiency NGS Genetic Test
- 5034ADAM17 Gene Inflammatory skin and bowel disease, neonatal, type 1 NGS Genetic Test
- 5035IKBKG Gene Incontinentia pigmenti type 2 NGS Genetic Test
- 5036ITGA3 Gene Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital NGS Genetic Test
- 5037IKBKG Gene Invasive pneumococcal disease, recurrent isolated type 2 NGS Genetic Test
- 5038IRAK4 Gene Invasive pneumococcal disease, recurrent isolated type 1 NGS Genetic Test
- 5039IRAK4 Gene IRAK4 deficiency NGS Genetic Test
- 5041MBTPS2 Gene Keratosis follicularis spinulosa declavans, X-linked NGS Genetic Test
- 5042FERMT1 Gene Kindler syndrome NGS Genetic Test
- 5045DSP Gene Keratosis palmoplantaris striata type 2 NGS Genetic Test
- 5046COL2A1 Gene Legg-Calve-Perthes disease NGS Genetic Test
- 5047AAGAB Gene Keratoderma, palmoplantar, punctate type 1A NGS Genetic Test
- 5048LAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic Test
- 5050SPRED1 Gene Legius syndrome NGS Genetic Test
- 5052TGFBR1 Gene Loeys-Dietz syndrome type 1A NGS Genetic Test
- 5054TGFBR2 Gene Loeys-Dietz syndrome type 1B NGS Genetic Test
- 5055MMP2 Gene Multicentric osteolysis, nodulosis, and arthropathy NGS Genetic Test
- 5056MAFB Gene Multicentric carpotarsal osteolysis syndrome NGS Genetic Test
- 5057CHRNA1 Gene Multiple pterygium syndrome lethal type NGS Genetic Test
- 5058NLRP3 Gene Muckle-wells syndrome NGS Genetic Test
- 5059IFNGR1 Gene Mycobacterial infection, atypical, familial disseminated NGS Genetic Test
- 5061KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic Test
- 5062LMX1B Gene Nail-Patella syndrome NGS Genetic Test
- 5063NF1 Gene Neurofibromatosis type 1 NGS Genetic Test
- 5065SLC9A3R1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 NGS Genetic Test
- 5066SPINK5 Gene Netherton syndrome NGS Genetic Test
- 5067GFI1 Gene Neutropenia, nonimmune chronic idiopathic, of adults NGS Genetic Test
- 5068NF2 Gene Neurofibromatosis type 2 NGS Genetic Test
- 5069G6PC3 Gene Neutropenia, severe congenital type 4, autosomal recessive NGS Genetic Test
- 5070GFI1 Gene Neutropenia, severe congenital type 2, autosomal dominant NGS Genetic Test
- 5071VPS45 Gene Neutropenia, severe congenital type 5, autosomal recessive NGS Genetic Test
- 5073RAC2 Gene Neutrophil immunodeficiency syndrome NGS Genetic Test
- 5075JAGN1 Gene Neutropenia, severe congenital type 6, autosomal recessive NGS Genetic Test
- 5076RAG2 Gene Omenn syndrome NGS Genetic Test
- 5078GPC6 Gene Omodysplasia type 1 NGS Genetic Test
- 5079INPPL1 Gene Opsismodysplasia NGS Genetic Test
- 5080COL2A1 Gene Osteoarthritis with mild chondrodysplasia NGS Genetic Test
- 5083CREB3L1 Gene Osteogenesis disorders, CREB3L1 related NGS Genetic Test
- 5084CSF1 Gene Osteogenesis and dental anomalies, CSF1 related NGS Genetic Test
- 5086SERPINH1 Gene Osteogenesis imperfecta type 10 NGS Genetic Test
- 5088SP7 Gene Osteogenesis imperfecta type 12 NGS Genetic Test
- 5091TMEM38B Gene Osteogenesis imperfecta type 14 NGS Genetic Test
- 5092WNT1 Gene Osteogenesis imperfecta type 15 NGS Genetic Test
- 5095LRP5 Gene Osteoporosis pseudoglioma syndrome NGS Genetic Test
- 5096KRT16 Gene Pachyonychia congenita type 1 NGS Genetic Test
- 5099SQSTM1 Gene Paget disease of bone NGS Genetic Test
- 5102KRT16 Gene Palmoplantar keratoderma, nonepidermolytic, focal NGS Genetic Test
- 5103TGM5 Gene Peeling skin syndrome type 2 NGS Genetic Test
- 5106CHST8 Gene Peeling skin syndrome type 3 NGS Genetic Test
- 5110USB1 Gene Poikiloderma with neutropenia NGS Genetic Test
- 5111CARD14 Gene Pityriasis rubra pilaris NGS Genetic Test
- 5112SNAI2 Gene Piebaldism NGS Genetic Test
- 5113COMP Gene Pseudoachondroplasia NGS Genetic Test
- 5114MVK Gene Porokeratosis type 3, disseminated superficial actinic NGS Genetic Test
- 5116FECH Gene Protoporphyria, erythropoietic type 1 NGS Genetic Test
- 5117ABCC6 Gene Pseudoxanthoma elasticum, forme fruste NGS Genetic Test
- 5118ABCC6 Gene Pseudoxanthoma elasticum NGS Genetic Test
- 5119UROD Gene Porphyria cutanea tarda NGS Genetic Test
- 5120IL12B Gene Psoriasis susceptibility type 11 NGS Genetic Test
- 5123CHRNG Gene Pterygium syndrome NGS Genetic Test
- 5124PARN Gene Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 NGS Genetic Test
- 5125CTSK Gene Pycnodysostosis NGS Genetic Test
- 5127TERT Gene Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 NGS Genetic Test
- 5128MYD88 Gene Pyogenic bacterial infections, recurrent, due to MYD88 deficiency NGS Genetic Test
- 5129FGFRL1 Gene Radioulnar synostosis, FGFRL1 related NGS Genetic Test
- 5130FAM20C Gene Raine syndrome NGS Genetic Test
- 5131ZMPSTE24 Gene Restrictive dermopathy, lethal NGS Genetic Test
- 5132LMNA Gene Restrictive dermopathy, lethal NGS Genetic Test
- 5133ACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic Test
- 5134MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 NGS Genetic Test
- 5135B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test
- 5136DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic Test
- 5137CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test
- 5138LFNG Gene Spondylocostal dysostosis, autosomal recessive type 3 NGS Genetic Test
- 5140FBN1 Gene Stiff skin syndrome NGS Genetic Test
- 5141KRT17 Gene Steatocystoma multiplex NGS Genetic Test
- 5142DNASE1 Gene Systemic lupus erythematosus NGS Genetic Test
- 5143DNASE1L3 Gene Systemic lupus erythematosus type 16 NGS Genetic Test
- 5145GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic Test
- 5146ENG Gene Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 1 NGS Genetic Test
- 5147FOXN1 Gene T-cell immunodeficiency, congenital alopecia, and nail dystrophy NGS Genetic Test
- 5148ACVRL1 Gene Telangiectasia, hereditary hemorrhagic, type 2 NGS Genetic Test
- 5149FLNA Gene Terminal osseous dysplasis NGS Genetic Test
- 5150DLX3 Gene Trichodontoosseous syndrome NGS Genetic Test
- 5151THSD1 Gene Thrombospondin Type 1 domain-containing protein 1 NGS Genetic Test
- 5152TRPS1 Gene Trichorhinophalangeal syndrome type 1 NGS Genetic Test
- 5153SKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic Test
- 5155MPLKIP Gene Trichothiodystrophy, nonphotosensitive type 1 NGS Genetic Test
- 5156ERCC3 Gene Trichothiodystrophy NGS Genetic Test
- 5158GTF2H5 Gene Trichothiodystrophy NGS Genetic Test
- 5159TUFT1 Gene Tuftelin deficiency NGS Genetic Test
- 5162ERCC6 Gene UV-sensitive syndrome type 1 NGS Genetic Test
- 5166SOX10 Gene Waardenburg syndrome type 2E NGS Genetic Test
- 5167PAX3 Gene Waardenburg syndrome type 1 NGS Genetic Test
- 5168NLRP1 Gene Vitiligo-associated multiple autoimmune disease NGS Genetic Test
- 5169MMP14 Gene Winchester Syndrome NGS Genetic Test
- 5170SOX10 Gene Waardenburg syndrome type 4C NGS Genetic Test
- 5171EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test
- 5172CXCR4 Gene WHIM syndrome NGS Genetic Test
- 5173XPA Gene Xeroderma pigmentosum, group A NGS Genetic Test
- 5174ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic Test
- 5175ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test
- 5177DDB2 Gene Xeroderma pigmentosum, group E, DDB-negative subtype NGS Genetic Test
- 5180POLH Gene Xeroderma pigmentosum, variant type NGS Genetic Test
- 5181TBX20 Gene Atrial septal defect type 4 NGS Genetic Test
- 5182CITED2 Gene Atrial septal defect type 8 NGS Genetic Test
- 5183ACTC1 Gene Atrial septal defect type 5 NGS Genetic Test
- 5184TLL1 Gene Atrial septal defect type 6 NGS Genetic Test
- 5185GATA6 Gene Atrial septal defect type 9 NGS Genetic Test
- 5186GATA6 Gene Atrioventricular septal defect type 5 NGS Genetic Test
- 5187GATA4 Gene Atrioventricular septal defect type 4 NGS Genetic Test
- 5188TAZ Gene Barth syndrome NGS Genetic Test
- 5189SCN5A Gene Brugada syndrome type 1 NGS Genetic Test
- 5190SCN3B Gene Brugada syndrome type 7 NGS Genetic Test
- 5192TIMP1 Gene Bicuspid aortic valve NGS Genetic Test
- 5193GPD1L Gene Brugada syndrome type 2 NGS Genetic Test
- 5194SCN1B Gene Brugada syndrome type 5 NGS Genetic Test
- 5196CACNB2 Gene Brugada syndrome type 4 NGS Genetic Test
- 5198MT-ATP8 Gene Cardiomyopathy, apical hypertrophic, and neuropathy, MT-ATP8 related NGS Genetic Test
- 5203NEXN Gene Cardiomyopathy, dilated type 1CC NGS Genetic Test
- 5207SCN5A Gene Cardiomyopathy, dilated type 1E NGS Genetic Test
- 5210TTN Gene Cardiomyopathy, dilated type 1G NGS Genetic Test
- 5211SDHA Gene Cardiomyopathy, dilated type 1GG NGS Genetic Test
- 5213BAG3 Gene Cardiomyopathy, dilated type 1HH NGS Genetic Test
- 5214DES Gene Cardiomyopathy, dilated type 1I NGS Genetic Test
- 5216SGCD Gene Cardiomyopathy, dilated type 1L NGS Genetic Test
- 5218PRDM16 Gene Cardiomyopathy, dilated type 1LL NGS Genetic Test
- 5219TCAP Gene Cardiomyopathy, dilated type 1N NGS Genetic Test
- 5220ABCC9 Gene Cardiomyopathy, dilated type 1O NGS Genetic Test
- 5222MYH7 Gene Cardiomyopathy, dilated type 1S NGS Genetic Test
- 5225PLN Gene Cardiomyopathy, dilated type 1P NGS Genetic Test
- 5227FKTN Gene Cardiomyopathy, dilated type 1X NGS Genetic Test
- 5228PSEN2 Gene Cardiomyopathy, dilated type 1V NGS Genetic Test
- 5231MYBPC3 Gene Cardiomyopathy, familial hypertrophic type 4 NGS Genetic Test
- 5232TNNI3 Gene Cardiomyopathy, familial hypertrophic type 7 NGS Genetic Test
- 5234TPM1 Gene Cardiomyopathy, familial hypertrophic type 3 NGS Genetic Test
- 5235MYL3 Gene Cardiomyopathy, familial hypertrophic type 8 NGS Genetic Test
- 5237TTN Gene Cardiomyopathy, familial hypertrophic type 9 NGS Genetic Test
- 5238MT-TI Gene Cardiomyopathy, fatal, MT-TI related NGS Genetic Test
- 5243MT-TG Gene Cardiomyopathy, hypertrophic, MT-TG related NGS Genetic Test
- 5244PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic Test
- 5246MYH7B Gene Cardiomyopathy, left ventricular noncompaction, MYH7B related NGS Genetic Test
- 5247MT-ATP8 Gene Cardiomyopathy, infantile hypertrophic, MT-ATP8 related NGS Genetic Test
- 5248TAB2 Gene Congenital heart defects multiple types NGS Genetic Test
- 5252LAMP2 Gene Danon disease NGS Genetic Test
- 5254SCN1B Gene Familial atrial fibrillation type 13 NGS Genetic Test
- 5255MYLK2 Gene Cardiomyopathy, hypertrophic, midventricular, digenic NGS Genetic Test
- 5257CR1 Gene CR1 deficiency NGS Genetic Test
- 5259KCNQ1 Gene Jervell and Lange-Nielsen syndrome type 1 NGS Genetic Test
- 5261MIB1 Gene Left ventricular noncompaction 7 NGS Genetic Test
- 5263KCNQ1 Gene Long QT syndrome type 1 NGS Genetic Test
- 5264TLR5 Gene Legionnaire disease, susceptibility to NGS Genetic Test
- 5267SCN4B Gene Long QT syndrome type 10 NGS Genetic Test
- 5268KCNJ5 Gene Long QT syndrome type 13 NGS Genetic Test
- 5271MT-TD Gene Mitochondrial myopathy, isolated NGS Genetic Test
- 5272MT-TE Gene Mitochondrial myopathy, infantile, transient, MT-TE related NGS Genetic Test
- 5273SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic Test
- 5274MT-TM Gene Mitochondrial myopathy, MT-TM related NGS Genetic Test
- 5276ACTA2 Gene Multisystemic smooth muscle dysfunction syndrome NGS Genetic Test
- 5279TRPM4 Gene Progressive familial heart block NGS Genetic Test
- 5280GATA6 Gene Pancreatic agenesis and congenital heart defects NGS Genetic Test
- 5282CRHR1 Gene Pulmonary newborn hypertension NGS Genetic Test
- 5284KCNH2 Gene Short QT syndrome type 1 NGS Genetic Test
- 5285KCNQ1 Gene Short QT syndrome type 2 NGS Genetic Test
- 5287KCNJ2 Gene Short QT syndrome type 3 NGS Genetic Test
- 5288SCN5A Gene Sick sinus syndrome type 1 NGS Genetic Test
- 5289CACNA1D Gene Sinoatrial node dysfunction and deafness NGS Genetic Test
- 5290MYH6 Gene Sick sinus syndrome type 3 NGS Genetic Test
- 5292TSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic Test
- 5294ALDH1A2 Gene Tetralogy of Fallot NGS Genetic Test
- 5295GATA4 Gene Testicular anomalies with or without congenital heart disease NGS Genetic Test
- 5296GATA4 Gene Tetralogy of Fallot NGS Genetic Test
- 5297ZFPM2 Gene Tetralogy of Fallot NGS Genetic Test
- 5298MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic Test
- 5299SMAD2 Gene Thoracic aortic aneurysm dissection NGS Genetic Test
- 5301SCN5A Gene Ventricular fibrillation, paroxysmal familial type 1 NGS Genetic Test
- 5302GATA4 Gene Ventricular septal defect type 1 NGS Genetic Test
- 5303RYR2 Gene Ventricular tachycardia, catecholaminergic polymorphic type 1 NGS Genetic Test
- 5304CALM1 Gene Ventricular tachycardia, catecholaminergic polymorphic type 4 NGS Genetic Test
- 5306CASQ2 Gene Ventricular tachycardia, catecholaminergic polymorphic type 2 NGS Genetic Test
- 5307PRKAG2 Gene Wolff -Parkinson-White syndrome NGS Genetic Test
- 5308GP1BA Gene Bernard Soulier syndrome type A1 NGS Genetic Test
- 5309GP1BB Gene Bernard Soulier syndrome type B NGS Genetic Test
- 5312GP9 Gene Bernard Soulier syndrome type C NGS Genetic Test
- 5315PPARG Gene Carotid intimal medial thickness type 1 NGS Genetic Test
- 5316KRIT1 Gene Cerebral cavernous malformations type 1 NGS Genetic Test
- 5317CCM2 Gene Cerebral cavernous malformations type 2 NGS Genetic Test
- 5319PDCD10 Gene Cerebral cavernous malformations type 3 NGS Genetic Test
- 5320GLA Gene Fabry disease NGS Genetic Test
- 5322MCTP2 Gene Coarctation of the aorta NGS Genetic Test
- 5323ITGA2 Gene Glycoprotein Ia C807T polymorphism NGS Genetic Test
- 5324JAM3 Gene Hemorrhagic destruction of the brain, subependymal calcification, and cataracts NGS Genetic Test
- 5325MTHFR Gene Homocystinuria NGS Genetic Test
- 5326ABCA1 Gene Coronary artery disease in familial hypercholesterolemia, protection against NGS Genetic Test
- 5327CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic Test
- 5328NR3C2 Gene Hypertension early onset NGS Genetic Test
- 5329CYP3A5 Gene Hypertension, salt-sensitive essential, susceptibility to NGS Genetic Test
- 5330MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic Test
- 5331ADD2 Gene Hypertension, ADD2 related NGS Genetic Test
- 5334RNF213 Gene Moyamoya disease type 2, susceptibility to NGS Genetic Test
- 5336LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test
- 5338ISCU Gene Myopathy with lactic acidosis hereditary NGS Genetic Test
- 5339SLC6A2 Gene Orthostatic intolerance NGS Genetic Test
- 5340RASA1 Gene Parkes Weber syndrome NGS Genetic Test
- 5341PROC Gene Protein C Deficiency, AD NGS Genetic Test
- 5342ADA2 Gene Polyarteritis nodosa, childhood-onset NGS Genetic Test
- 5343PROS1 Gene Protein S Deficiency, autosomal dominant NGS Genetic Test
- 5344KLHL3 Gene Pseudohypoaldosteronism type 2D NGS Genetic Test
- 5345CUL3 Gene Pseudohypoaldosteronism type 2E NGS Genetic Test
- 5347ADA2 Gene Sneddon syndrome NGS Genetic Test
- 5348STIM1 Gene Stormorken syndrome NGS Genetic Test
- 5349BMPR2 Gene Pulmonary venoocclusive disease type 1 NGS Genetic Test
- 5350F2 Gene Thrombophilia due to thrombin defect NGS Genetic Test
- 5351GNA13 Gene Vascular system defects due to GNA13 deficiency NGS Genetic Test
- 5354MED13L Gene Transposition of the great arteries, dextro-looped 1 NGS Genetic Test
- 5355Nephrology Panel NGS Genetic Test
- 5357Pancreatitis Panel NGS Genetic Test
- 5358Congenital adrenal hyperplasia Panel NGS Genetic Test
- 5359HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency NGS Genetic Test
- 5361CYP11A1 Gene Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete NGS Genetic Test
- 5362GPR101 Gene Acromegaly, predisposition to, due to germline GPR101 mutation NGS Genetic Test
- 5363COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test
- 5364COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test
- 5365AR Gene Androgen insensitivity NGS Genetic Test
- 5367COL4A5 Gene Alport syndrome, X-Linked NGS Genetic Test
- 5368SHBG Gene Androgen-binding protein deficiency NGS Genetic Test
- 5369BBS1 Gene Bardet-Biedl syndrome type 1 NGS Genetic Test
- 5370BBS10 Gene Bardet-Biedl syndrome type 10 NGS Genetic Test
- 5371VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic Test
- 5372MKS1 Gene Bardet-Biedl syndrome type 13 NGS Genetic Test
- 5374TRIM32 Gene Bardet-Biedl syndrome type 11 NGS Genetic Test
- 5375CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic Test
- 5378BBS2 Gene Bardet-Biedl syndrome type 2 NGS Genetic Test
- 5379ARL6 Gene Bardet-Biedl syndrome type 3 NGS Genetic Test
- 5381TTC8 Gene Bardet-Biedl syndrome type 8 NGS Genetic Test
- 5382BBS5 Gene Bardet-Biedl syndrome type 5 NGS Genetic Test
- 5383MKKS Gene Bardet-Biedl syndrome type 6 NGS Genetic Test
- 5384SLC34A1 Gene Fanconi renotubular syndrome type 2 NGS Genetic Test
- 5386MT-TY Gene Focal segmental glomerulosclerosis and dilated cardiomyopath, MT-TY related NGS Genetic Test
- 5387ACTN4 Gene Focal segmental glomerulosclerosis type 1 NGS Genetic Test
- 5389CD2AP Gene Focal segmental glomerulosclerosis type 3 NGS Genetic Test
- 5390APOL1 Gene Focal segmental glomerulosclerosis type 4, susceptibility to NGS Genetic Test
- 5392INF2 Gene Focal segmental glomerulosclerosis type 5 NGS Genetic Test
- 5393PAX2 Gene Focal segmental glomerulosclerosis type 7 NGS Genetic Test
- 5394LAMA5 Gene Focal segmental glomerulosclerosis, LAMA5 related NGS Genetic Test
- 5395CRB2 Gene Focal segmental glomerulosclerosis type 9 NGS Genetic Test
- 5396ANLN Gene Focal segmental glomerulosclerosis type 8 NGS Genetic Test
- 5400NR3C1 Gene Glucocorticoid resistance, generalized NGS Genetic Test
- 5401NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test
- 5402UMOD Gene Glomerulocystic kidney disease with hyperuricemia and isosthenuria NGS Genetic Test
- 5403AMT Gene Glycine encephalopathy NGS Genetic Test
- 5404KEAP1 Gene Goitre, multinodular NGS Genetic Test
- 5405GNMT Gene Glycine N-methyltransferase deficiency NGS Genetic Test
- 5407GHRHR Gene Growth hormone deficiency NGS Genetic Test
- 5408GH1 Gene Growth hormone deficiency NGS Genetic Test
- 5409STAT5B Gene Growth hormone insensitivity with immunodeficiency NGS Genetic Test
- 5410CFB Gene Hemolytic uremic syndrome NGS Genetic Test
- 5412CFH Gene Hemolytic uremic syndrome NGS Genetic Test
- 5415CFHR4 Gene Hemolytic uremic syndrome NGS Genetic Test
- 5417THBD Gene Hemolytic uremic syndrome NGS Genetic Test
- 5418CD46 Gene Hemolytic uremic syndrome, atypical type 2, susceptibility to NGS Genetic Test
- 5419SCO1 Gene Hepatic failure, early onset, and neurologic disorder NGS Genetic Test
- 5420SP110 Gene Hepatic venoocclusive disease with immunodeficiency NGS Genetic Test
- 5421CFI Gene Hemolytic uremic syndrome NGS Genetic Test
- 5422UGT1A1 Gene Hyperbilirubinemia, familial transient neonatal NGS Genetic Test
- 5423KCNJ5 Gene Hyperaldosteronism type 3 NGS Genetic Test
- 5424SLCO1B1 Gene Hyperbilirubinemia, Rotor type NGS Genetic Test
- 5425CDC73 Gene Hyperparathyroidism type 1, familial NGS Genetic Test
- 5427GPD1 Gene Hypertriglyceridemia, transient infantile NGS Genetic Test
- 5428CASR Gene Hyperparathyroidism, neonatal severe NGS Genetic Test
- 5429CDC73 Gene Hyperparathyroidism type 2, familial NGS Genetic Test
- 5430UMOD Gene Hyperuricemic nephropathy, familial juvenile type 1 NGS Genetic Test
- 5431SARS2 Gene Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis NGS Genetic Test
- 5432CASR Gene Hypocalcemia, autosomal dominant, with Bartter syndrome NGS Genetic Test
- 5433CASR Gene Hypocalciuric hypercalcemia, type 1 NGS Genetic Test
- 5434NSMF Gene Hypogonadotropic hypogonadism NGS Genetic Test
- 5435KISS1R Gene Hypogonadotropic hypogonadism NGS Genetic Test
- 5436LHB Gene Hypogonadotropic hypogonadism NGS Genetic Test
- 5437TAC3 Gene Hypogonadotropic hypogonadism type 10 with or without anosmia NGS Genetic Test
- 5438TACR3 Gene Hypogonadotropic hypogonadism type 11 with or without anosmia NGS Genetic Test
- 5439GNRH1 Gene Hypogonadotropic hypogonadism type 12 with or without anosmia NGS Genetic Test
- 5440PROKR2 Gene Hypogonadotropic hypogonadism type 3 with or without anosmia NGS Genetic Test
- 5441PTH Gene Hypoparathyroidism NGS Genetic Test
- 5442HS6ST1 Gene Hypogonadotropic hypogonadism type 15 with or without anosmia NGS Genetic Test
- 5443GNRHR Gene Hypogonadotropic hypogonadism type 7 with or without anosmia NGS Genetic Test
- 5444GCM2 Gene Hypoparathyroidism, familial isolated NGS Genetic Test
- 5445THRA Gene Hypothyroidism congenital nongoitrous type 6 NGS Genetic Test
- 5446GATA3 Gene Hypoparathyroidism, sensorineural deafness, and renal dysplasia NGS Genetic Test
- 5447SLC7A7 Gene LYSINURIC PROTEIN INTOLERANCE NGS Genetic Test
- 5448MKS1 Gene Meckel syndrome type 1 NGS Genetic Test
- 5451CEP290 Gene Meckel syndrome type 4 NGS Genetic Test
- 5452TCTN2 Gene Meckel syndrome type 8 NGS Genetic Test
- 5453TMEM67 Gene Meckel syndrome type 3 NGS Genetic Test
- 5454B9D1 Gene Meckel syndrome type 9 NGS Genetic Test
- 5455UMOD Gene Medullary cystic kidney disease type 2 NGS Genetic Test
- 5456SAMD9 Gene Mirage syndrome NGS Genetic Test
- 5457AVPR2 Gene Nephrogenic syndrome of inapproriate antidiuresis NGS Genetic Test
- 5460ATP7A Gene Menkes disease NGS Genetic Test
- 5461SLC34A1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 NGS Genetic Test
- 5463NPHP1 Gene Nephronophthisis type 1 NGS Genetic Test
- 5466SLC9A3R1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 NGS Genetic Test
- 5468INVS Gene Nephronophthisis type 2 NGS Genetic Test
- 5470NPHP4 Gene Nephronophthisis type 4 NGS Genetic Test
- 5471DCDC2 Gene Nephronophthisis type 19 NGS Genetic Test
- 5472NPHP3 Gene Nephronophthisis type 3 NGS Genetic Test
- 5473CTRC Gene Pancreatitis NGS Genetic Test
- 5474PRSS1 Gene Pancreatitis NGS Genetic Test
- 5475SPINK1 Gene Pancreatitis NGS Genetic Test
- 5476SOX3 Gene Panhypopituitarism, X-linked NGS Genetic Test
- 5477PRSS2 Gene Pancreatitis, chronic, protection against NGS Genetic Test
- 5478CPA1 Gene Pancreatitis, chronic, early onset NGS Genetic Test
- 5480CDC73 Gene Parathyroid adenoma with cystic changes, familial NGS Genetic Test
- 5481LHX3 Gene Pituitary hormone deficiency, combined type 3 NGS Genetic Test
- 5482PRKAR1A Gene Pigmented nodular adrenocortical disease type 1, primary NGS Genetic Test
- 5483LHX4 Gene Pituitary hormone deficiency, combined type 4 NGS Genetic Test
- 5486PKHD1 Gene Polycystic kidney disease type 1, autosomal recessive NGS Genetic Test
- 5487SULT2B1 Gene Polycystic ovary syndrome type 1 NGS Genetic Test
- 5490FMR1 Gene Premature ovarian failure type 1 NGS Genetic Test
- 5492CACNA1D Gene Primary aldosteronism, seizures, and neurologic abnormalities NGS Genetic Test
- 5493LHCGR Gene Precocious puberty, male NGS Genetic Test
- 5494CLCN5 Gene Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis NGS Genetic Test
- 5495SCNN1A Gene Pseudohypoaldosteronism, type 1, autosomal recessive NGS Genetic Test
- 5499GNAS Gene Pseudohypoparathyroidism type 1B NGS Genetic Test
- 5502GNAS Gene Pseudohypoparathyroidism type 1C NGS Genetic Test
- 5505SLC26A1 Gene Renal dysfunction due to SLC26A1 deficiency NGS Genetic Test
- 5506SLC5A2 Gene Renal glucosuria NGS Genetic Test
- 5508ATP6V1B1 Gene Renal tubular acidosis with deafness NGS Genetic Test
- 5509SLC4A5 Gene Renal tubular acidosis, SLC4A5 related NGS Genetic Test
- 5512ROBO2 Gene Vesicoureteral reflux type 2 NGS Genetic Test
- 5513SLC4A4 Gene Renal tubular acidosis, proximal, with ocular abnormalities NGS Genetic Test
- 5516WT1 Gene Wilms tumor type 1, familial NGS Genetic Test
- 5518SRY Gene 46,XX sex reversal type 1 NGS Genetic Test
- 5520EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test
- 5521CYP19A1 Gene Aromatase deficiency NGS Genetic Test
- 5522AZF region Gene Azoospermia induced by Y chromosome microdeletions NGS Genetic Test
- 5523CFTR Gene Congenital bilateral absence of vas deferens NGS Genetic Test
- 5524RXFP2 Gene Cryptorchidism NGS Genetic Test
- 5525STRC Gene Deafness and male infertility NGS Genetic Test
- 5527CATSPER2 Gene Deafness and male infertility, CATSPER2 related NGS Genetic Test
- 5528HOXA13 Gene Guttmacher syndrome NGS Genetic Test
- 5529FSHB Gene Follicle-stimulating hormone deficiency, isolated NGS Genetic Test
- 5530HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test
- 5531NLRP7 Gene Hydatidiform mole NGS Genetic Test
- 5534NSMF Gene Hypogonadotropic hypogonadism NGS Genetic Test
- 5535FGF8 Gene Hypogonadotropic hypogonadism type 6 with or without anosmia NGS Genetic Test
- 5536AR Gene Hypospadias type 1, X-linked NGS Genetic Test
- 5537WDR11 Gene Hypogonadtropic hypogonadism type 14 NGS Genetic Test
- 5538MAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic Test
- 5539ZP1 Gene Oocyte maturation defect NGS Genetic Test
- 5540LHCGR Gene Leydig cell hypoplasia type 1 NGS Genetic Test
- 5541NANOS1 Gene Oligo-astheno-teratozoospermia NGS Genetic Test
- 5543FSHR Gene Ovarian dysgenesis type 1 NGS Genetic Test
- 5545AMH Gene Persistent Mullerian duct syndrome type 1 NGS Genetic Test
- 5546C4BPA Gene Pregnancy loss, recurrent, C4BPA related NGS Genetic Test
- 5547AMHR2 Gene Persistent Mullerian duct syndrome type 2 NGS Genetic Test
- 5548CORIN Gene Preeclampsia/eclampsia type 5 NGS Genetic Test
- 5549HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic Test
- 5550SYCP3 Gene SPGF4 NGS Genetic Test
- 5551AURKC Gene SPGF5 NGS Genetic Test
- 5552CATSPER1 Gene SPGF7 NGS Genetic Test
- 5553SPATA16 Gene SPGF6 NGS Genetic Test
- 5554GATA4 Gene Testicular anomalies with or without congenital heart disease NGS Genetic Test
- 5555DPY19L2 Gene SPGF9 NGS Genetic Test
- 5557MDM2 Gene Accelerated tumor formation, susceptibility to NGS Genetic Test
- 5558NR5A1 Gene SPGF8 NGS Genetic Test
- 5559FGA Gene Afibrinogenemia, congenital NGS Genetic Test
- 5561FGG Gene Afibrinogenemia, congenital NGS Genetic Test
- 5562Bone marrow failure Anemia panel NGS Genetic Test
- 5563PKLR Gene Adenosine triphosphate, elevated, of erythrocytes NGS Genetic Test
- 5565IGLL1 Gene Agammaglobulinemia type 2, autosomal recessive NGS Genetic Test
- 5566CD79A Gene Agammaglobulinemia type 3, autosomal recessive NGS Genetic Test
- 5567BTK Gene Agammaglobulinemia type 1, X-linked NGS Genetic Test
- 5568LRRC8A Gene Agammaglobulinemia type 5, autosomal recessive NGS Genetic Test
- 5569CD79B Gene Agammaglobulinemia type 6, autosomal recessive NGS Genetic Test
- 5570PIK3R1 Gene Agammaglobulinemia type 7, autosomal recessive NGS Genetic Test
- 5571SPTB Gene Anemia, neonatal hemolytic, fatal and near-fatal NGS Genetic Test
- 5573BLNK Gene Agammaglobulinemia type 4, autosomal recessive NGS Genetic Test
- 5576SLC25A38 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive NGS Genetic Test
- 5578ABCB7 Gene Anemia, sideroblastic, with ataxia NGS Genetic Test
- 5580RPL11 Gene Diamond-Blackfan anemia type 7 NGS Genetic Test
- 5581RPS7 Gene Diamond-Blackfan anemia type 8 NGS Genetic Test
- 5582RPL5 Gene Diamond-Blackfan anemia type 6 NGS Genetic Test
- 5584RPS10 Gene Diamond-Blackfan anemia type 9 NGS Genetic Test
- 5585G6PD Gene Hemolytic anemia due to G6PD deficiency NGS Genetic Test
- 5586TPI1 Gene Hemolytic anemia due to triosephosphate isomerase deficiency NGS Genetic Test
- 5587NCF4 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NGS Genetic Test
- 5589F9 Gene Hemophilia B NGS Genetic Test
- 5590KEL Gene Hemolytic anemia, Kell-system related NGS Genetic Test
- 5591GPI Gene Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency NGS Genetic Test
- 5592HBG2 Gene Hereditary persistence of fetal hemoglobin NGS Genetic Test
- 5593LARS2 Gene Hydrops, lactic acidosis, and sideroblastic anemia NGS Genetic Test
- 5594CBLIF Gene Intrinsic factor deficiency NGS Genetic Test
- 5595TMPRSS6 Gene Iron-refractory iron deficiency anemia NGS Genetic Test
- 5596FERMT3 Gene Leukocyte adhesion deficiency type 3 NGS Genetic Test
- 5597TERT Gene Leukemia, acute myeloid form, susceptible due to TERT germline mutation NGS Genetic Test
- 5603XIAP Gene Lymphoproliferative syndrome, X-linked type 2 NGS Genetic Test
- 5604CYB5R3 Gene Methemoglobinemia type 1 NGS Genetic Test
- 5605CUBN Gene Megaloblastic anemia type 1, Finnish type NGS Genetic Test
- 5607HAX1 Gene Neutropenia, severe congenital type 3 NGS Genetic Test
- 5610PEAR1 Gene Platelet aggregation disorder NGS Genetic Test
- 5614ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic Test
- 5617FLI1 Gene Platelet dense granule secretion defect, excessive bleeding NGS Genetic Test
- 5619APOE Gene Sea-blue histiocyte disease NGS Genetic Test
- 5620JAK3 Gene SCID autosomal recessive T negative B positive type NGS Genetic Test
- 5624SPTB Gene Spherocytosis type 2 NGS Genetic Test
- 5632MPL Gene Thrombocytopenia congenital amegakaryocytic NGS Genetic Test
- 5633SLC19A2 Gene Thiamine-responsive megaloblastic anemia syndrome NGS Genetic Test
- 5635Ciliopathies Panel NGS Genetic Test
- 5636Dysmorphology Panel NGS Genetic Test
- 5639ZSWIM6 Gene Acromelic frontonasal dysostosis NGS Genetic Test
- 5640Noonan - RASophathies Panel NGS Genetic Test
- 5641NPR2 Gene Acromesomelic dysplasia, Maroteaux type NGS Genetic Test
- 5643TP63 Gene ADULT syndrome, split hand-foot malformation NGS Genetic Test
- 5644FBN1 Gene Acromicric dysplasia NGS Genetic Test
- 5648JAG1 Gene Alagille syndrome type 1 NGS Genetic Test
- 5649ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test
- 5654HOXA1 Gene Athabaskan brainstem dysgenesis syndrome NGS Genetic Test
- 5656GATA4 Gene Atrial septal defect type 2 NGS Genetic Test
- 5658GNAI3 Gene Auriculocondylar syndrome type 1 NGS Genetic Test
- 5659CRELD1 Gene Atrioventricular septal defect, partial with heterotaxy syndrome NGS Genetic Test
- 5660PITX2 Gene Axenfeld-Rieger syndrome type 1 NGS Genetic Test
- 5661FOXC1 Gene Axenfeld-Rieger syndrome type 3 NGS Genetic Test
- 5662OCLN Gene Band-like calcification with simplified gyration and polymicrogyria NGS Genetic Test
- 5663ASXL3 Gene Bainbridge-Ropers syndrome NGS Genetic Test
- 5664ACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic Test
- 5667SUFU Gene Basal cell nevus syndrome NGS Genetic Test
- 5669PDGFRB Gene Basal ganglia calcification type 4 NGS Genetic Test
- 5672XPR1 Gene Basal ganglia calcification type 6, idiopathic NGS Genetic Test
- 5673FLCN Gene Birt-Hogg-Dube syndrome NGS Genetic Test
- 5674FREM1 Gene Bifid nose NGS Genetic Test
- 5675NOD2 Gene Blau syndrome NGS Genetic Test
- 5678ASXL1 Gene Bohring-Opitz syndrome NGS Genetic Test
- 5679BMP2 Gene Brachydactyly type A2 NGS Genetic Test
- 5680GDF5 Gene Brachydactyly type A1C NGS Genetic Test
- 5683BMPR1B Gene Brachydactyly type A2 NGS Genetic Test
- 5684HDAC4 Gene Brachydactyly-mental retardation syndrome NGS Genetic Test
- 5686SOX9 Gene Campomelic dysplasia NGS Genetic Test
- 5690TGFB1 Gene Camurati-Engelmann disease NGS Genetic Test
- 5692RAB23 Gene Carpenter syndrome NGS Genetic Test
- 5694VANGL1 Gene Caudal regression syndrome NGS Genetic Test
- 5695ABCC9 Gene Cantu syndrome NGS Genetic Test
- 5696ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
- 5697BDNF Gene Central hypoventilation syndrome, congenital NGS Genetic Test
- 5698PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic Test
- 5702EDN3 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
- 5704MECP2 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
- 5706SNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome NGS Genetic Test
- 5708ERCC6 Gene Cerebrooculofacioskeletal syndrome type 1 NGS Genetic Test
- 5711IMPAD1 Gene Chondrodysplasia with joint dislocations, GPAPP type NGS Genetic Test
- 5712CHD7 Gene CHARGE syndrome NGS Genetic Test
- 5717PITX1 Gene Club foot NGS Genetic Test
- 5719ERCC8 Gene Cockayne syndrome type A NGS Genetic Test
- 5720MEIS2 Gene Cleft palate, cardiac defects, and mental retardation NGS Genetic Test
- 5721ERCC6 Gene Cockayne syndrome type B NGS Genetic Test
- 5723LONP1 Gene CODAS syndrome NGS Genetic Test
- 5724SMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic Test
- 5725CLCF1 Gene Cold-induced sweating syndrome type 2 NGS Genetic Test
- 5726CLMP Gene Congenital short-bowel syndrome NGS Genetic Test
- 5729ARX Gene Corpus callosum, agenesis of, with abnormal genitalia NGS Genetic Test
- 5730FOXH1 Gene Congenital heart disease and transposition of the great arteries NGS Genetic Test
- 5732SOST Gene Craniodiaphyseal dysplasia, autosomal dominant NGS Genetic Test
- 5733HRAS Gene Costello syndrome NGS Genetic Test
- 5734IFT122 Gene Cranioectodermal dysplasia type 1 NGS Genetic Test
- 5735WDR35 Gene Cranioectodermal dysplasia type 2 NGS Genetic Test
- 5737DISP1 Gene Craniofacial and neuro-developmental abnormalities NGS Genetic Test
- 5739TWIST1 Gene Craniosynostosis type 1 NGS Genetic Test
- 5740COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test
- 5742WNT7A Gene Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly NGS Genetic Test
- 5743POLE Gene FILS syndrome NGS Genetic Test
- 5744JAG2 Gene Craniofacial and neuro-developmental abnormalities, JAG2 related NGS Genetic Test
- 5746FREM2 Gene Fraser syndrome NGS Genetic Test
- 5747GRIP1 Gene Fraser syndrome NGS Genetic Test
- 5749ALX3 Gene Frontonasal dysplasia type 1 NGS Genetic Test
- 5751FTO Gene Growth retardation, developmental delay, facial dysmorphism NGS Genetic Test
- 5752IGF1 Gene Growth retardation with deafness and mental retardation due to IGF1 deficiency NGS Genetic Test
- 5755HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test
- 5757ADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic Test
- 5759FAT4 Gene Hennekam lymphangiectasia-lymphedema syndrome type 2 NGS Genetic Test
- 5761CFC1 Gene Heterotaxy, visceral type 2 NGS Genetic Test
- 5762CFAP53 Gene Heterotaxy, visceral type 6 NGS Genetic Test
- 5763ACVR2B Gene Heterotaxy, visceral type 4 NGS Genetic Test
- 5764MMP21 Gene Heterotaxy, visceral type 7 NGS Genetic Test
- 5766ECE1 Gene Hirschsprung disease NGS Genetic Test
- 5767BCL9L Gene Heterotaxy, visceral, BCL9L related NGS Genetic Test
- 5770EDNRB Gene Hirschsprung disease NGS Genetic Test
- 5772KIF1BP Gene Hirschsprung disease NGS Genetic Test
- 5773NRTN Gene Hirschsprung disease NGS Genetic Test
- 5774ZEB2 Gene Hirschsprung disease NGS Genetic Test
- 5778SHH Gene Holoprosencephaly type 3 NGS Genetic Test
- 5781SIX3 Gene Holoprosencephaly type 2 NGS Genetic Test
- 5782ZIC2 Gene Holoprosencephaly type 5 NGS Genetic Test
- 5783LMNA Gene Hutchinson-Gilford progeria NGS Genetic Test
- 5793PIGW Gene Hyperphosphatasia with mental retardation syndrome type 5 NGS Genetic Test
- 5794PGAP2 Gene Hyperphosphatasia with mental retardation syndrome type 3 NGS Genetic Test
- 5798FGF8 Gene Hypogonadotropic hypogonadism type 6 with or without anosmia NGS Genetic Test
- 5799MAMLD1 Gene Hypospadias type 2, X-linked NGS Genetic Test
- 5807KMT2D Gene Kabuki syndrome type 1 NGS Genetic Test
- 5822EXT1 Gene Langer-Giedion syndrome NGS Genetic Test
- 5824FOXC2 Gene Lymphedema-distichiasis syndrome NGS Genetic Test
- 5825LMNA Gene Mandibuloacral dysplasia NGS Genetic Test
- 5826RIN2 Gene Macrocephaly, alopecia, cutis laxa, and scoliosis NGS Genetic Test
- 5840DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
- 5845PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic Test
- 5846MMP9 Gene Metaphyseal anadysplasia type 2 NGS Genetic Test
- 5848GFM2 Gene Microcephaly with symplified gyral pattern and insulin-dependant diabetes NGS Genetic Test
- 5853AP4M1 Gene Microcephaly, AP4M1 related NGS Genetic Test
- 5868LZTR1 Gene Noonan syndrome type 10 NGS Genetic Test
- 5870SOS1 Gene Noonan syndrome type 4 NGS Genetic Test
- 5878MED12 Gene Opitz-Kaveggia syndrome NGS Genetic Test
- 5882BMP4 Gene Orofacial cleft type 11 NGS Genetic Test
- 5886C2CD3 Gene Orofaciodigital syndrome type 14 NGS Genetic Test
- 5892COL2A1 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic Test
- 5894PAX2 Gene Papillorenal syndrome NGS Genetic Test
- 5901FGFR2 Gene Pfeiffer syndrome NGS Genetic Test
- 5903TCF4 Gene Pitt-Hopkins syndrome NGS Genetic Test
- 5904POU1F1 Gene Pituitary hormone deficiency type 1 NGS Genetic Test
- 5906PROP1 Gene Pituitary hormone deficiency type 2 NGS Genetic Test
- 5920RBBP8 Gene Seckel syndrome type 2 NGS Genetic Test
- 5927SHOX Gene Short stature syndrome NGS Genetic Test
- 5931DHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic Test
- 5938MTRR Gene Spina bifida folate sensitive NGS Genetic Test
- 5943TBX6 Gene Spondylocostal dysostosis type 5 NGS Genetic Test
- 5952maternal UPD chr. 14 Gene Temple syndrome NGS Genetic Test
- 5953KCNH1 Gene Temple-Baraitser syndrome NGS Genetic Test
- 5956CUL7 Gene Three M syndrome type 1 NGS Genetic Test
- 5966FGFR1 Gene Trigonocephaly type 1 NGS Genetic Test
- 5970TBX3 Gene Ulnar-Mammary syndrome NGS Genetic Test
- 5983ARNT2 Gene Webb-Dattani syndrome NGS Genetic Test
- 5993NDUFA13 Gene Hurthle cell thyroid carcinoma, due to germline NDUFA13 mutation NGS Genetic Test
- 5995JAK2 Gene Leukemia, acute myelogenous NGS Genetic Test
- 5996PAX5 Gene Leukemia, acute lymphoblastic, susceptibility to, due to PAX5 germline mutation NGS Genetic Test
- 5998CEBPA Gene Leukemia, myeloid acute form, due to CEBPA germline mutation NGS Genetic Test
- 6007NPM1 Gene NPM1, selective sequencing of exon 11 NGS Genetic Test
- 6011AIP Gene Pituitary adenoma, prolactin-secreting, due to AIP germline mutation NGS Genetic Test
- 6012JAK2 Gene Polycythemia vera, somatic NGS Genetic Test
- 6013DICER1 Gene Pleuropulmonary blastoma NGS Genetic Test
- 6014GREM1 Gene Polyposis syndrome, hereditary mixed NGS Genetic Test
- 6017HOXB13 Gene Prostate cancer, familial, association with NGS Genetic Test
- 6019HNF1A Gene Renal cell carcinoma, due to HNF1A germline mutation NGS Genetic Test
- 6023JAK2 Gene Thrombocythemia type 3, somatic NGS Genetic Test
- 6025ARL11 Gene Tumor predisposition syndrome, ARL11 related NGS Genetic Test
- 6036Autism Gene Panel
- 6049Beta Thalassemia Screening [Prenatal]
- 6050Beta Thalassemia-9 Common Mutations Screening (Couple)
- 6053Beta Thalassemia-9 Common Mutations Screening (Single)
- 6055Beta Thalassemia-HBB Full Gene Analysis (Couple + Prenatal) [Trio Analysis]
- 6077Cystic Fibrosis Mutation Screening (CFTR - Del 508)[Prenatal]
- 6091Double Marker
- 6092DMD/BMD Mutation Screening (26 Exons)
- 6093Dystonia Gene Panel
- 6096E2A t(1;19)(q23;p13) Qualitative
- 6098Endocrine Cancer Gene Panel
- 6102GATA2 Full-Length Gene Sequencing (Chronic Neutropenia, MonoMac Syndrome, Mylodysplasia, AML)
- 6103Gastro-Intestinal Cancer Gene Panel
- 6108Hemophilia A Common Mutation Screening (Factor VIII Intron 22 Inversion Analysis)
- 6129Maternal Cell Contamination
- 6135Microarray 60K (POC)
- 6137MM Panel (Cytogenetics + FISH [del(11q), del(13q), IgH, del(17p)]
- 6147H9N2 & Influenza A Viral Load Quantitative Test
- 6167JEV (RNA Detection) Qualitative Test
- 6187Malaria (P. Falciparum) (RNA Detection) Qualitative Test
- 6247Toxoplasma Gondii (RNA Detection) Qualitative Test
- 6262Maternity DNA Test
- 6264Maternal Lineage X-SV DNA Test
- 6271Alpha Thalassemia HBA1
- 6275IVF Surrogacy Sperm Paternity Test
- 6290Carrier Screening
- 6298Maternal Cell Contamination MCC Test
- 6307Genetic Test Counselling
- 6309Cotton GMO Testing
- 6312Papaya GMO Testing
- 6313Sugar Beets
- 6316Finished Feeds / Pellets GMO Testing
- 6318DNA Extraction from Solid Tissue - Animal
- 6320DNA Extraction from Blood - EDTA
- 6321DNA Extraction from Cultured Cells
- 6322DNA Extraction from Bacteria
- 6324DNA Extraction from Stool
- 6325DNA Extraction from Insect
- 6328DNA Extraction from Plasma or Serum
- 6333Shotgun Metagenome Sequencing and Analysis
- 6335DNA QC and Quantitation - Qubit
- 6337Bacterial Genome Sequencing, De Novo Assembly and Annotation - Illumina
- 6338DNA Viral Metagenome Sequencing and Analysis
- 6339Bacterial Genome Sequencing and Reference Based Analysis
- 6361Bacterial V3-V4 16S rRNA Amplicon Sequencing
- 6369GBS Library Preparation
- 6375MeDIP-Seq Library Preparation
- 6381Bacterial Genome Reference Based Data Analysis-Illumina
- 6385Fungal Genome De Novo Assembly and Annotation-Illumina
- 6405RNA Extraction from Solid Tissue- Animal
- 6406RNA Extraction from Cultured Cells
- 6407RNA Extraction from Solid Tissue- Plant
- 6409RNA Extraction from Fungus-Spores
- 6411RNA Extraction from Blood-Paxgene/Tempus
- 6416RNA QC and Quantitation
- 6417RNA Extraction from Milk
- 6431RNA Viral Metagenome Sequencing and Analysis
Articles Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA
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