Metabolic Disorders
DNA Labs India | Diagnostic Tests
Metabolic Disorders
Clinical Overview
Sub-category mapping under Genetics & Genomics
| Reviewed by: Dr. Rajesh Kumar, MD Pathology | ISO 9001:2015 Certified Laboratory
This content is for educational purposes only. Always consult a qualified healthcare provider for medical advice.
Tests
Amino Acids Qualitative Urine & Plasma Test
The purpose of the Amino Acids Qualitative Urine & Plasma Test is to identify abnormalities in amino...
Canavan Disease Test
The purpose of the Canavan Disease Test is to screen for elevated levels of N-acetylaspartic acid (N...
Galactose Quantitative Plasma Test
To quantitatively measure galactose levels in plasma for the diagnosis and monitoring of galactosemi...
Galactose-1-Phosphate Quantitative Blood Test
This test is useful for monitoring dietary therapy for Classic Galactosemia, Galactosemia-Duarte var...
Galactosemia Panel 3 Test
To diagnose galactosemia by analyzing genetic mutations in the GALT, GALK1, and GALE genes, aiding i...
Galactosemia Panel 1 Test
To screen for and diagnose galactosemia, particularly classical galactosemia due to GALT deficiency,...
Galactosemia Classical (Transferase) Quantitative Blood Test
The purpose of this test is to quantitatively assess GALT enzyme activity in the blood to diagnose c...
Galactosemia (Epimerase) Quantitative Blood Test
The purpose of the Galactosemia (Epimerase) Quantitative Blood Test is to quantitatively measure gal...
Galactosemia Panel 2 Test
The primary purpose of the Galactosemia Panel 2 Test is to diagnose galactosemia by detecting mutati...
Galactosemia (GALT) Gene Mutation Detection Test
The purpose of the Galactosemia (GALT) Gene Mutation Detection Test is to identify mutations in the...
Gaucher Disease Quantitative Blood Test
The purpose of the Gaucher Disease Quantitative Blood Test is to diagnose Gaucher Disease by measuri...
GM2 Gangliosidosis Quantitative Blood Tay Sachs & Sandhoff Disease Test
To quantitatively measure hexosaminidase A and B enzyme levels in the blood for diagnosing Tay-Sachs...
GM1 Gangliosidosis Quantitative Blood Test
The purpose of the GM1 Gangliosidosis Quantitative Blood Test is to detect and quantify the level of...
HHH Syndrome Hyperornithinemia - Hyperammonemia - Homocitrullinuria Syndrome Test
To diagnose HHH Syndrome by detecting elevated levels of ornithine in blood, ammonia in blood, and h...
Metachromatic Leucodystrophy Quantitative Blood Test
The purpose of this test is to diagnose Metachromatic Leukodystrophy by measuring arylsulfatase A (A...
Mucopolysaccharidosis (MPS) Type VI (Maroteaux Lamy) Quantitative Blood Test
To quantitatively measure the activity of arylsulfatase B enzyme in the blood, aiding in the diagnos...
Mucopolysaccharidosis (MPS) Type 1 (Hurler) Quantitative Blood Test
The purpose of the MPS Type 1 Quantitative Blood Test is to measure the activity level of the enzyme...
Niemann Pick Disease Quantitative Blood Test
To diagnose Niemann-Pick Disease by measuring Acid Sphingomyelinase (ASM) enzyme activity in the blo...
Nx Gen Sequencing: Alkaptonuria Test
The purpose of this test is to identify mutations in the HGD gene associated with alkaptonuria, enab...
POLG Gene Mitochondrial DNA depletion syndrome type 4A NGS Genetic Test
To identify pathogenic mutations in the POLG gene for definitive diagnosis of Mitochondrial DNA Depl...
Metabolic Disorders Wide Range Panel NGS Genetic Test
The purpose of this test is to identify genetic mutations causing metabolic disorders through NGS, f...
MPS Enzyme Panel NGS Genetic Test
To diagnose Mucopolysaccharidoses (MPS) by identifying genetic mutations using NGS technology, aidin...
Sphingo Enzyme Panel NGS Genetic Test
The purpose of the Sphingo Enzyme Panel NGS Genetic Test is to detect mutations in genes encoding sp...
ACADS Gene Acyl-CoA short-chain dehydrogenase deficiency NGS Genetic Test
To diagnose Acyl-CoA Short-Chain Dehydrogenase Deficiency by identifying pathogenic variants in the...
ACADVL Gene Acyl-CoA very long-chain dehydrogenase deficiency NGS Genetic Test
To detect pathogenic mutations in the ACADVL gene for diagnosis of Acyl-CoA Very Long-Chain Dehydrog...
ALDH2 Gene Acute Alcohol sensitivity NGS Genetic Test
The purpose of this test is to detect genetic mutations in the ALDH2 gene that cause acute alcohol s...
MTTP Gene Abetalipoproteinemia NGS Genetic Test
To identify mutations in the MTTP gene associated with abetalipoproteinemia for accurate diagnosis,...
ETFB Gene Acyl-CoA multiple dehydrogenase deficiency NGS Genetic Test
The purpose of the ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic Test is to diagn...
ALAD Gene Acute hepatic porphyria NGS Genetic Test
To detect mutations in the ALAD gene that cause Acute Hepatic Porphyria, enabling accurate diagnosis...
SERAC1 Gene 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome NGS Genetic Test
To confirm a genetic diagnosis of 3-methylglutaconic aciduria with deafness, encephalopathy, and Lei...
APRT Gene Adenine phosphoribosyltransferase deficiency NGS Genetic Test
The purpose of this test is to diagnose APRT deficiency by identifying genetic mutations in the APRT...
A2M Gene Alpha-2-macroglobulin deficiency NGS Genetic Test
To diagnose A2M deficiency through genetic analysis, enabling early intervention, risk assessment, a...
CYP11B1 Gene Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency NGS Genetic Test
To identify mutations in the CYP11B1 gene for diagnosis, carrier screening, and management of adrena...
POR Gene Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NGS Genetic Test
The purpose of the POR Gene NGS Genetic Test is to diagnose adrenal hyperplasia due to cytochrome P4...
OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency NGS Genetic Test
The purpose of this test is to diagnose OGDH gene mutations causing alpha-ketoglutarate dehydrogenas...
ATIC Gene AICA-ribosiduria due to ATIC deficiency NGS Genetic Test
To diagnose AICA-ribosiduria due to ATIC deficiency by detecting pathogenic mutations in the ATIC ge...
NR0B1 Gene Adrenal hypoplasia NGS Genetic Test
To diagnose adrenal hypoplasia by detecting mutations in the NR0B1 gene using NGS technology, guidin...
UPD chr. 6 Gene 6q24-related transient neonatal diabetes mellitus type 1 NGS Genetic Test
This test is performed to identify genetic abnormalities at the chromosome 6q24 region, including pa...
HGD Gene Alkaptonuria NGS Genetic Test
To detect mutations in the HGD gene for the diagnosis of alkaptonuria, enabling early intervention,...
AMACR Gene Alpha-methylacyl CoA racemase deficiency NGS Genetic Test
To diagnose Alpha-methylacyl CoA racemase deficiency by detecting mutations in the AMACR gene throug...
GBE1 Gene Andersen disease NGS Genetic Test
To diagnose Andersen disease by identifying mutations in the GBE1 gene using next-generation sequenc...
SEC23B Gene Anemia dyserythropoietic type 2 NGS Genetic Test
To accurately detect mutations in the SEC23B gene for definitive diagnosis of Anemia Dyserythropoiet...
ACY1 Gene Aminoacylase deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ACY1 gene using next-generation...
SERPINA1 Gene Antitrypsin-alpha-1 deficiency NGS Genetic Test
The purpose of the SERPINA1 Gene Antitrypsin-alpha-1 Deficiency NGS Genetic Test is to identify muta...
ABCD3 Gene Bile acid synthesis defect type 5, congenital NGS Genetic Test
The purpose of this test is to diagnose ABCD3 Gene Bile Acid Synthesis Defect Type 5 by detecting mu...
CPS1 Gene Carbamoylphosphate synthetase I deficiency NGS Genetic Test
To identify mutations in the CPS1 gene that cause Carbamoylphosphate Synthetase I Deficiency, enabli...
BCHE Gene Butyrylcholinesterase deficiency NGS Genetic Test
The purpose of the BCHE Gene Butyrylcholinesterase deficiency NGS Genetic Test is to diagnose geneti...
BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency NGS Genetic Test
To diagnose BCKDK gene deficiency, identify pathogenic mutations, and guide clinical management, gen...
BTD Gene Biotinidase deficiency NGS Genetic Test
The purpose of the BTD Gene Biotinidase Deficiency NGS Genetic Test is to diagnose biotinidase defic...
SLC22A5 Gene Carnitine deficiency NGS Genetic Test
To diagnose carnitine deficiency caused by SLC22A5 gene mutations, enabling targeted treatment and g...
BCAT2 Gene Branched-chain aminotransferase 2 deficiency NGS Genetic Test
The purpose of the BCAT2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic varian...
CPT2 Gene Carnitine palmitoyltransferase 2 deficiency, infantile NGS Genetic Test
The purpose of the CPT2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic variant...
CLN5 Gene Ceroid lipofuscinosis neuronal type 5 NGS Genetic Test
To diagnose CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 by detecting mutations in the CLN5 gene...
MT-RNR2 Gene Chloramphenicol resistance, MT-RNR2 related NGS Genetic Test
To diagnose chloramphenicol resistance by identifying mutations in the MT-RNR2 gene through NGS sequ...
DNAJC5 Gene Ceroid lipofuscinosis neuronal type 4 NGS Genetic Test
To provide a definitive diagnosis of Ceroid Lipofuscinosis Neuronal Type 4 (CLN4) by identifying mut...
ABHD5 Gene Chanarin-Dorfman syndrome NGS Genetic Test
The purpose of the ABHD5 Gene Chanarin-Dorfman Syndrome NGS Genetic Test is to identify mutations in...
TPP1 Gene Ceroid lipofuscinosis neuronal type 2 NGS Genetic Test
The TPP1 Gene Ceroid Lipofuscinosis Neuronal Type 2 NGS Genetic Test is performed to confirm a clini...
ABCB11 Gene Cholestasis benign recurrent intrahepatic type 2 NGS Genetic Test
The primary purpose of this test is to identify mutations in the ABCB11 gene that cause Benign Recur...
ATP8B1 Gene Cholestasis progressive intrahepatic type 1 NGS Genetic Test
To identify mutations in the ATP8B1 gene that cause progressive intrahepatic cholestasis type 1, aid...
ABCB11 Gene Cholestasis progressive intrahepatic type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the ABCB11 gene that cause Progressive Intrahep...
ATP8B1 Gene Cholestasis, benign recurrent intrahepatic NGS Genetic Test
The purpose of this test is to identify mutations in the ATP8B1 gene to confirm a diagnosis of Benig...
ATP8B1 Gene Cholestasis, intrahepatic, of pregnancy, type 1 NGS Genetic Test
The purpose of this test is to confirm the genetic basis of intrahepatic cholestasis of pregnancy ty...
ABCB4 Gene Cholestasis progressive intrahepatic type 3 NGS Genetic Test
To identify mutations in the ABCB4 gene responsible for progressive intrahepatic cholestasis type 3,...
ASS1 Gene Citrullinemia NGS Genetic Test
To identify mutations in the ASS1 gene associated with citrullinemia type I for diagnostic and carri...
SAR1B Gene Chylomicron retention disease NGS Genetic Test
To identify mutations in the SAR1B gene responsible for chylomicron retention disease, enabling earl...
GFM1 Gene Combined oxidative phosphorylation deficiency type 1 NGS Genetic Test
The purpose of this test is to diagnose combined oxidative phosphorylation deficiency type 1 by iden...
RMND1 Gene Combined oxidative phosphorylation deficiency type 11 NGS Genetic Test
The purpose of the RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 NGS Genetic Test...
MTFMT Gene Combined oxidative phosphorylation deficiency type 15 NGS Genetic Test
To diagnose Combined oxidative phosphorylation deficiency type 15 by detecting mutations in the MTFM...
VARS2 Gene Combined oxidative phosphorylation deficiency type 20 NGS Genetic Test
The purpose of this test is to diagnose Combined Oxidative Phosphorylation Deficiency Type 20 by ide...
MRPS16 Gene Combined oxidative phosphorylation deficiency type 2 NGS Genetic Test
To diagnose mutations in the MRPS16 gene that cause Combined Oxidative Phosphorylation Deficiency Ty...
LYRM4 Gene Combined oxidative phosphorylation deficiency type 19 NGS Genetic Test
The purpose of this test is to diagnose COXPD19 by detecting mutations in the LYRM4 gene using NGS t...
PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 NGS Genetic Test
The purpose of the PNPT1 Gene COXPD13 NGS Genetic Test is to identify pathogenic or likely pathogeni...
FARS2 Gene Combined oxidative phosphorylation deficiency type 14 NGS Genetic Test
To identify mutations in the FARS2 gene responsible for combined oxidative phosphorylation deficienc...
EARS2 Gene Combined oxidative phosphorylation deficiency type 12 NGS Genetic Test
The purpose of the EARS2 Gene COXPD Type 12 NGS Genetic Test is to identify pathogenic mutations in...
ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic Test
To diagnose Combined Oxidative Phosphorylation Deficiency Type 22 by detecting mutations in the ATP5...
GTPBP3 Gene Combined oxidative phosphorylation deficiency type 23 NGS Genetic Test
To diagnose combined oxidative phosphorylation deficiency type 23 (COXPD23) by identifying pathogeni...
MARS2 Gene Combined oxidative phosphorylation deficiency type 25 NGS Genetic Test
To identify pathogenic variants in the MARS2 gene for diagnosis of Combined oxidative phosphorylatio...
MTO1 Gene Combined oxidative phosphorylation deficiency type 10 NGS Genetic Test
The purpose of the MTO1 Gene COXPD10 NGS Genetic Test is to identify pathogenic or likely pathogenic...
TUFM Gene Combined oxidative phosphorylation deficiency type 4 NGS Genetic Test
To detect pathogenic mutations in the TUFM gene that cause combined oxidative phosphorylation defici...
SFXN4 Gene Combined oxidative phosphorylation deficiency type 18 NGS Genetic Test
The purpose of the SFXN4 Gene COXPD18 NGS Genetic Test is to identify pathogenic or likely pathogeni...
TSFM Gene Combined oxidative phosphorylation deficiency type 3 NGS Genetic Test
The purpose of the TSFM Gene COXPD3 NGS Genetic Test is to diagnose Combined Oxidative Phosphorylati...
NARS2 Gene Combined oxidative phosphorylation deficiency type 24 NGS Genetic Test
This test is performed to identify pathogenic mutations in the NARS2 gene responsible for Combined O...
AIFM1 Gene Combined oxidative phosphorylation deficiency type 6 NGS Genetic Test
To identify mutations in the AIFM1 gene that cause Combined Oxidative Phosphorylation Deficiency Typ...
AARS2 Gene Combined oxidative phosphorylation deficiency type 8 NGS Genetic Test
To identify mutations in the AARS2 gene for the diagnosis of Combined Oxidative Phosphorylation Defi...
MRPL3 Gene Combined oxidative phosphorylation deficiency type 9 NGS Genetic Test
The purpose of the MRPL3 Gene COXPD9 NGS Genetic Test is to detect pathogenic mutations in the MRPL3...
ALG11 Gene Congenital disorder of glycosylation, type Ip NGS Genetic Test
To diagnose congenital disorder of glycosylation type Ip caused by mutations in the ALG11 gene using...
SRD5A3 Gene Congenital disorder of glycosylation, type Iq NGS Genetic Test
The purpose of the SRD5A3 Gene CDG Type Iq NGS Genetic Test is to identify pathogenic or likely path...
SLC6A8 Gene Creatine deficiency syndrome X-linked NGS Genetic Test
The purpose of this test is to identify mutations in the SLC6A8 gene that cause creatine deficiency...
CTNS Gene Cystinosis, nephropathic NGS Genetic Test
The purpose of the CTNS gene cystinosis nephropathic NGS genetic test is to identify pathogenic muta...
MRPS22 Gene Combined oxidative phosphorylation deficiency type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the MRPS22 gene to diagnose Combined Oxidative Ph...
HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test
The primary purpose of the HSD17B4 Gene NGS Genetic Test is to confirm or rule out a diagnosis of D-...
SLC26A3 Gene Diarrhea type 1, secretory chloride, congenital NGS Genetic Test
To diagnose Diarrhea Type 1 caused by mutations in the SLC26A3 gene using Next-Generation Sequencing...
GLYCTK Gene D-glyceric aciduria NGS Genetic Test
The purpose of the GLYCTK Gene D-glyceric aciduria NGS Genetic Test is to identify pathogenic or lik...
SPINT2 Gene Diarrhea type 3, secretory sodium, congenital, syndromic NGS Genetic Test
The purpose of the SPINT2 Gene Diarrhea Type 3 NGS Genetic Test is to detect mutations in the SPINT2...
GLA Gene Fabry disease NGS Genetic Test
The purpose of this test is to identify mutations in the GLA gene that cause Fabry disease, enabling...
DPYS Gene Dihydropyrimidinuria NGS Genetic Test
This test is used to identify pathogenic mutations in the DPYS gene for definitive diagnosis of dihy...
FANCL Gene Fanconi anemia type L NGS Genetic Test
To diagnose Fanconi anemia type L by detecting mutations in the FANCL gene using advanced NGS techno...
SLC2A5 Gene Fructose uptake deficiency, SLC2A5 related NGS Genetic Test
The purpose of this test is to identify mutations in the SLC2A5 gene that cause fructose uptake defi...
ASAH1 Gene Farber disease NGS Genetic Test
This test is designed for the molecular diagnosis of Farber disease by sequencing the ASAH1 gene to...
SLX4 Gene Fanconi anemia type P NGS Genetic Test
To diagnose Fanconi Anemia Type P by identifying mutations in the SLX4 gene using NGS technology, ai...
SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic Test
To diagnose Fanconi-Bickel Syndrome by detecting pathogenic mutations in the SLC2A2 gene using Next-...
G6PD Gene Favism, susceptibility to NGS Genetic Test
To detect mutations in the G6PD gene for accurate diagnosis of Favism susceptibility, enabling targe...
ALDOB Gene Fructose intolerance NGS Genetic Test
The purpose of the ALDOB Gene Fructose Intolerance NGS Genetic Test is to detect mutations in the AL...
FH Gene Fumarase deficiency NGS Genetic Test
To diagnose Fumarase Deficiency by detecting pathogenic mutations in the FH gene using NGS technolog...
FUCA1 Gene Fucosidosis NGS Genetic Test
The purpose of this test is to accurately detect pathogenic mutations in the FUCA1 gene to diagnose...
FBP1 Gene Fructose-1,6-bisphosphatase deficiency NGS Genetic Test
To detect mutations in the FBP1 gene for diagnosis of Fructose-1,6-bisphosphatase deficiency, enabli...
GALE Gene Galactose epimerase deficiency NGS Genetic Test
To diagnose galactose epimerase deficiency by detecting pathogenic mutations in the GALE gene using...
ABAT Gene GABA-transaminase deficiency NGS Genetic Test
This test identifies mutations in the ABAT gene responsible for GABA-transaminase deficiency, aiding...
GALT Gene Galactosemia NGS Genetic Test
To diagnose galactosemia by identifying mutations in the GALT gene, confirm suspected cases based on...
GBA Gene Gaucher disease type 1 NGS Genetic Test
To diagnose Gaucher Disease Type 1 by identifying mutations in the GBA gene, enabling early interven...
GBA Gene Gaucher disease type 3 NGS Genetic Test
To diagnose Gaucher disease type 3 by detecting mutations in the GBA gene using NGS technology, aidi...
CTSA Gene Galactosialidosis NGS Genetic Test
The purpose of the CTSA Gene Galactosialidosis NGS Genetic Test is to identify mutations in the CTSA...
ABCB4 Gene Gallbladder disease type 1 NGS Genetic Test
The purpose of the ABCB4 Gene Gallbladder Disease Type 1 NGS Genetic Test is to identify mutations o...
MRAP Gene Glucocorticoid deficiency type 2 NGS Genetic Test
The primary purpose of this test is to confirm a molecular diagnosis of familial glucocorticoid defi...
GBA Gene Gaucher disease type 2 NGS Genetic Test
The primary purpose of this test is to detect pathogenic mutations in the GBA gene that cause Gauche...
MC2R Gene Glucocorticoid deficiency type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the MC2R gene that cause glucocorticoid deficienc...
NNT Gene Glucocorticoid deficiency type 4, with or without mineralocorticoid deficiency NGS Genetic Test
The purpose of this test is to identify mutations in the NNT gene using NGS technology for accurate...
GALK1 Gene Galactokinase deficiency NGS Genetic Test
To identify pathogenic mutations in the GALK1 gene for definitive diagnosis of galactokinase deficie...
GCDH Gene Glutaric acidemia type 1 NGS Genetic Test
To diagnose Glutaric Acidemia Type 1 by detecting mutations in the GCDH gene, enabling early treatme...
GLUL Gene Glutamine deficiency, congenital NGS Genetic Test
The purpose of this test is to diagnose congenital glutamine deficiency by identifying mutations in...
GBA Gene Gaucher disease type 3C NGS Genetic Test
The purpose of the GBA Gene Gaucher Disease Type 3C NGS Genetic Test is to identify pathogenic mutat...
FTCD Gene Glutamate formiminotransferase deficiency NGS Genetic Test
To diagnose FTCD gene glutamate formiminotransferase deficiency through genetic analysis, enabling e...
GSS Gene Glutathione synthetase deficiency NGS Genetic Test
To diagnose glutathione synthetase deficiency by identifying pathogenic mutations in the GSS gene th...
PGAM2 Gene Glycogen storage disease type 10 NGS Genetic Test
To identify pathogenic mutations in the PGAM2 gene for accurate diagnosis of glycogen storage diseas...
PRKAG2 Gene Glycogen storage disease of heart (lethal) NGS Genetic Test
The purpose of the PRKAG2 Gene Glycogen Storage Disease of Heart NGS Genetic Test is to detect mutat...
ALDOA Gene Glycogen storage disease type 12 NGS Genetic Test
The purpose of the ALDOA Gene Glycogen Storage Disease Type 12 NGS Genetic Test is to identify mutat...
LDHA Gene Glycogen storage disease type 11 NGS Genetic Test
The primary purpose of this test is to diagnose Glycogen Storage Disease Type 11 (GSD11) by identify...
GYS1 Gene Glycogen storage disease type 0 muscle NGS Genetic Test
To diagnose Glycogen Storage Disease Type 0 caused by mutations in the GYS1 gene through next-genera...
GYS2 Gene Glycogen storage disease type 0 NGS Genetic Test
The purpose of this test is to definitively diagnose Glycogen Storage Disease Type 0 by identifying...
GYG1 Gene Glycogen storage disease type 15 NGS Genetic Test
To identify mutations in the GYG1 gene for confirming Glycogen Storage Disease Type 15, guiding clin...
GSTT1 Gene Glutathione S-transferase theta-1 defficiency NGS Genetic Test
The purpose of this test is to determine the GSTT1 genotype of an individual to assess their detoxif...
PGM1 Gene Glycogen storage disease type 14 NGS Genetic Test
To diagnose Glycogen Storage Disease Type 14 (GSD14) by detecting mutations in the PGM1 gene using n...
GBE1 Gene Glycogen storage disease type 4 NGS Genetic Test
To identify mutations in the GBE1 gene associated with Glycogen Storage Disease Type 4 for accurate...
G6PC Gene Glycogen storage disease type 1A NGS Genetic Test
To identify pathogenic mutations in the G6PC gene for the definitive diagnosis of Glycogen Storage D...
AGL Gene Glycogen storage disease type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the AGL gene using NGS technology for the diagnos...
PHKA2 Gene Glycogen storage disease type 9A NGS Genetic Test
The purpose of this test is to detect mutations in the PHKA2 gene to diagnose Glycogen Storage Disea...
PHKB Gene Glycogen storage disease type 9B NGS Genetic Test
The purpose of this test is to diagnose Glycogen Storage Disease Type 9B by detecting mutations in t...
ENO3 Gene Glycogen storage disease type 13 NGS Genetic Test
The purpose of the ENO3 Gene Glycogen Storage Disease Type 13 NGS Genetic Test is to identify pathog...
GAA Gene Glycogen storage disease type 2 NGS Genetic Test
The purpose of the GAA Gene NGS Genetic Test is to provide a definitive molecular diagnosis of Glyco...
PYGM Gene Glycogen storage disease type 5 NGS Genetic Test
The purpose of the PYGM Gene NGS Genetic Test is to accurately diagnose Glycogen storage disease typ...
PYGL Gene Glycogen storage disease type 6B NGS Genetic Test
To diagnose Glycogen Storage Disease Type 6B caused by mutations in the PYGL gene, enabling early in...
MPI Gene Glycosylation disorder type 1B NGS Genetic Test
The purpose of the MPI Gene Glycosylation Disorder Type 1B NGS Genetic Test is to diagnose CDG-IB by...
PHKG2 Gene Glycogen storage disease type 9C NGS Genetic Test
To identify pathogenic mutations in the PHKG2 gene for the diagnosis of Glycogen Storage Disease Typ...
PMM2 Gene Glycosylation disorder type 1A NGS Genetic Test
To diagnose PMM2 Gene Glycosylation Disorder Type 1A through genetic analysis, aiding in clinical ma...
PFKM Gene Glycogen storage disease type 7 NGS Genetic Test
The primary purpose of the PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic Test is to identify...
MPDU1 Gene Glycosylation disorder type 1F NGS Genetic Test
The purpose of the MPDU1 Gene Glycosylation Disorder Type 1F NGS Genetic Test is to identify mutatio...
ALG1 Gene Glycosylation disorder type 1K NGS Genetic Test
To diagnose ALG1 gene glycosylation disorder type 1K through genetic analysis using NGS technology.
DOLK Gene Glycosylation disorder type 1M NGS Genetic Test
To identify mutations in the DOLK gene that cause Glycosylation Disorder Type 1M, aiding in diagnosi...
DPM2 Gene Glycosylation disorder type 1U NGS Genetic Test
The purpose of this test is to diagnose DPM2 Gene Glycosylation Disorder Type 1U through genetic ana...
RFT1 Gene Glycosylation disorder type 1N NGS Genetic Test
To diagnose RFT1 Gene Glycosylation Disorder Type 1N by detecting pathogenic mutations in the RFT1 g...
ALG2 Gene Glycosylation disorder type 1I NGS Genetic Test
The primary purpose of the ALG2 Gene Glycosylation Disorder Type 1I NGS Genetic Test is to provide a...
ALG9 Gene Glycosylation disorder type 1L NGS Genetic Test
To diagnose ALG9 Gene Glycosylation Disorder Type 1L by identifying pathogenic mutations in the ALG9...
MOGS Gene Glycosylation disorder type 2B NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the MOGS gene to diagnose Glycosylation...
ALG13 Gene Glycosylation disorder type 1S NGS Genetic Test
The purpose of the ALG13 gene glycosylation disorder type 1S NGS genetic test is to detect pathogeni...
SLC35A2 Gene Glycosylation disorder type 2M NGS Genetic Test
To identify mutations in the SLC35A2 gene for diagnosis of Glycosylation Disorder Type 2M, guiding t...
MGAT2 Gene Glycosylation disorder type 2A NGS Genetic Test
The purpose of the MGAT2 Gene Glycosylation Disorder Type 2A NGS Genetic Test is to identify pathoge...
COG6 Gene Glycosylation disorder type 3 NGS Genetic Test
To diagnose mutations in the COG6 gene associated with Glycosylation Disorder Type 3, enabling confi...
COG5 Gene Glycosylation disorder type 2I NGS Genetic Test
The purpose of this test is to diagnose COG5 Gene Glycosylation Disorder Type 2I by identifying muta...
TMEM165 Gene Glycosylation disorder type 2K NGS Genetic Test
The purpose of the TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic Test is to diagnose this...
B4GALT1 Gene Glycosylation disorder type 2D NGS Genetic Test
The purpose of the B4GALT1 Gene Glycosylation Disorder Type 2D NGS Genetic Test is to identify patho...
COG4 Gene Glycosylation disorder type 2J NGS Genetic Test
The purpose of this test is to detect mutations in the COG4 gene associated with Glycosylation Disor...
HEXB Gene GM2-gangliosidosis type 2 NGS Genetic Test
To identify pathogenic variants in the HEXB gene for diagnosis of GM2-gangliosidosis type 2, guide c...
GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic Test
The purpose of the GLB1 Gene GM1-gangliosidosis type 1 NGS Genetic Test is to identify mutations in...
SSR4 Gene Glycosylation disorder x-linked NGS Genetic Test
The purpose of the SSR4 Gene Glycosylation Disorder X-Linked NGS Genetic Test is to accurately detec...
GLB1 Gene GM1-gangliosidosis type 2 NGS Genetic Test
The purpose of this test is to diagnose GM1-gangliosidosis type 2 by sequencing the GLB1 gene using...
HPD Gene Hawkinsinuria NGS Genetic Test
To identify mutations in the HPD gene associated with Hawkinsinuria for diagnosis, carrier screening...
SLC6A19 Gene Hartnup disorder NGS Genetic Test
The purpose of this test is to identify mutations in the SLC6A19 gene that cause Hartnup Disorder, e...
ABCA1 Gene HDL deficiency, type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the ABCA1 gene...
TFR2 Gene Hemochromatosis type 3 NGS Genetic Test
The purpose of the TFR2 Gene Hemochromatosis Type 3 NGS Genetic Test is to detect mutations in the T...
HJV Gene Hemochromatosis type 2A NGS Genetic Test
To identify mutations in the HJV gene that cause Hemochromatosis Type 2A, aiding in diagnosis, risk...
GAMT Gene Guanidinoacetate methyltransferase deficiency NGS Genetic Test
The purpose of the GAMT Gene Guanidinoacetate Methyltransferase Deficiency NGS Genetic Test is to id...
DDOST Gene Glycosylation disorder type IR NGS Genetic Test
The purpose of the DDOST Gene Glycosylation Disorder Type IR NGS Genetic Test is to identify pathoge...
CETP Gene High density lipoprotein cholesterol level QTL 10 NGS Genetic Test
To identify genetic variations in the CETP gene and HDL Cholesterol Level QTL 10 region that may aff...
IDUA Gene Hurler syndrome NGS Genetic Test
The purpose of the IDUA Gene NGS Genetic Test is to identify mutations in the IDUA gene associated w...
IDUA Gene Hurler-Scheie syndrome NGS Genetic Test
To identify pathogenic mutations in the IDUA gene for confirmatory diagnosis of Hurler-Scheie syndro...
APOA2 Gene Hypercholesterolemia, familial, modifier of NGS Genetic Test
To diagnose familial hypercholesterolemia by detecting pathogenic mutations in the APOA2 gene, enabl...
G6PC2 Gene Hyperinsulinaemia, association with, G6PC2 related NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the G6PC2 gene...
LDLR Gene Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant NGS Genetic Test
To identify mutations in the LDLR gene responsible for autosomal dominant hypercholesterolemia, aidi...
APOA5 Gene Hyperchylomicronemia type 5 NGS Genetic Test
To identify genetic mutations in the APOA5 gene that cause hyperchylomicronemia type 5, aiding in di...
GCK Gene Hyperinsulinemic hypoglycemia type 3 NGS Genetic Test
The purpose of the GCK Gene HH3 NGS Genetic Test is to identify mutations in the GCK gene responsibl...
GLUD1 Gene Hyperinsulinemic hypoglycemia type 6 NGS Genetic Test
The purpose of the GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic Test is to diagnose H...
KCNJ11 Gene Hyperinsulinemic hypoglycemia type 2 NGS Genetic Test
The purpose of the KCNJ11 Gene Hyperinsulinemic Hypoglycemia Type 2 NGS Genetic Test is to identify...
USF1 Gene Hyperlipidemia, familial combined, susceptibility to NGS Genetic Test
To identify mutations in the USF1 gene and other genes associated with familial combined hyperlipide...
LPL Gene Hyperlipoproteinemia type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the LPL gene responsible for Hyperlipoproteinemia...
SLC16A1 Gene Hyperinsulinemic hypoglycemia type 7 NGS Genetic Test
To identify pathogenic mutations in the SLC16A1 gene that cause Hyperinsulinemic Hypoglycemia Type 7...
AASS Gene Hyperlysinemia type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the AASS gene that cause Hyperlysinemia type 1,...
HOGA1 Gene Hyperoxaluria type 3 NGS Genetic Test
To diagnose Hyperoxaluria Type 3 by identifying mutations in the HOGA1 gene for early intervention a...
GRHPR Gene Hyperoxaluria type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the GRHPR gene to confirm a diagnosis of hypero...
SLC25A15 Gene Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the SLC25A15 gene to confirm a diagnosis of HHH...
ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test
To diagnose hypermethioninemia caused by adenosine kinase deficiency through genetic analysis of the...
SLC30A10 Gene Hypermanganesemia with dystonia, polycythemia and cirrhosis NGS Genetic Test
The purpose of the SLC30A10 Gene NGS Genetic Test is to identify mutations in the SLC30A10 gene that...
QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic Test
The purpose of this test is to diagnose QDPR gene mutations causing BH4-deficient hyperphenylalanine...
SLC26A6 Gene Hyperoxaluria, SLC26A6 related NGS Genetic Test
The purpose of the SLC26A6 Gene Hyperoxaluria NGS Genetic Test is to identify pathogenic or likely p...
CYP11B2 Gene Hypoaldosteronism, congenital, due to CMO II deficiency NGS Genetic Test
To detect mutations in the CYP11B2 gene for diagnosis of congenital hypoaldosteronism due to CMO II...
ALDH4A1 Gene Hyperprolinemia type 2 NGS Genetic Test
The purpose of the ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic Test is to identify mutations in...
SARS2 Gene Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis NGS Genetic Test
The purpose of this test is to diagnose mutations in the SARS2 gene that may cause hyperuricemia, pu...
AGXT Gene Hyperoxaluria type 1 NGS Genetic Test
The primary purpose of the AGXT Gene Hyperoxaluria Type 1 NGS Genetic Test is to confirm a molecular...
TRPM6 Gene Hypomagnesemia type 1 NGS Genetic Test
To diagnose TRPM6 gene hypomagnesemia type 1 by detecting pathogenic mutations in the TRPM6 gene usi...
CLDN16 Gene Hypomagnesemia type 3 NGS Genetic Test
The purpose of the CLDN16 Gene Hypomagnesemia type 3 NGS Genetic Test is to identify mutations in th...
AKT2 Gene Hypoinsulinemic hypoglycemia with hemihypertrophy NGS Genetic Test
The purpose of this test is to detect mutations in the AKT2 gene that cause hypoinsulinemic hypoglyc...
FXYD2 Gene Hypomagnesemia type 2 NGS Genetic Test
The purpose of this test is to accurately diagnose hypomagnesemia type 2 by identifying pathogenic m...
ABCC8 Gene Hypoglycemia of infancy, leucine-sensitive NGS Genetic Test
The purpose of this test is to identify mutations in the ABCC8 gene that cause leucine-sensitive hyp...
EGF Gene Hypomagnesemia type 4 NGS Genetic Test
The purpose of this test is to diagnose EGF Gene Hypomagnesemia Type 4 by detecting mutations in the...
CYP11B2 Gene Hypoaldosteronism congenital due to CMO I deficiency NGS Genetic Test
To identify genetic mutations in the CYP11B2 gene responsible for congenital hypoaldosteronism due t...
CNNM2 Gene Hypomagnesemia type 6 NGS Genetic Test
The purpose of the CNNM2 Gene Hypomagnesemia Type 6 NGS Genetic Test is to confirm a diagnosis of hy...
CLDN19 Gene Hypomagnesemia type 5 NGS Genetic Test
To identify mutations in the CLDN19 gene associated with Hypomagnesemia type 5 for accurate diagnosi...
ALPL Gene Hypophosphatasia, adult NGS Genetic Test
The purpose of this test is to identify mutations in the ALPL gene to confirm a diagnosis of hypopho...
SLC2A9 Gene Hypouricemia, renal type 2 NGS Genetic Test
To diagnose SLC2A9 gene mutations causing renal hypouricemia type 2, confirm clinical diagnosis, gui...
SLC22A12 Gene Hypouricemia, renal type 1 NGS Genetic Test
The purpose of the SLC22A12 Gene Hypouricemia, Renal Type 1 NGS Genetic Test is to identify mutation...
LCT Gene Lactase deficiency, congenital NGS Genetic Test
The purpose of this test is to diagnose congenital lactase deficiency by detecting pathogenic mutati...
ACADL Gene LCAD deficiency NGS Genetic Test
To detect mutations in the ACADL gene that cause LCAD deficiency, enabling early diagnosis, manageme...
LDHB Gene Lactate dehydrogenase-B deficiency NGS Genetic Test
To detect mutations in the LDHB gene for accurate diagnosis of Lactate dehydrogenase-B deficiency, g...
LCAT Gene LCAT DEFICIENCY NGS Genetic Test
To detect mutations in the LCAT gene for accurate diagnosis and management of LCAT deficiency.
PDHX Gene Lacticacidemia due to PDX1 deficiency NGS Genetic Test
To diagnose lacticacidemia caused by PDHX gene deficiency through genetic analysis, enabling accurat...
HADHA Gene Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic Test
To identify mutations in the HADHA gene associated with Long-chain 3-hydroxyacyl-CoA dehydrogenase d...
CAVIN1 Gene Lipodystrophy generalized type 4 NGS Genetic Test
To identify mutations in the CAVIN1 gene for diagnosis of Lipodystrophy Generalized Type 4, aiding i...
BSCL2 Gene Lipodystrophy generalized type 2 NGS Genetic Test
The purpose of the BSCL2 Gene Lipodystrophy Generalized Type 2 NGS Genetic Test is to confirm a diag...
PPARG Gene Lipodystrophy, familial partial, type 3 NGS Genetic Test
The purpose of the PPARG Gene Lipodystrophy, Familial Partial, Type 3 NGS Genetic Test is to identif...
MANBAL Gene Mannosidosis, beta A, lysosomal-like NGS Genetic Test
The purpose of the MANBAL gene mannosidosis NGS genetic test is to detect mutations in the MANBAL ge...
MANBA Gene Mannosidosis-beta NGS Genetic Test
To diagnose Mannosidosis-beta by identifying mutations in the MANBA gene using NGS technology for ac...
ABHD1 Gene Lung alpha-beta hydrolase deficiency type 1 NGS Genetic Test
The purpose of the ABHD1 Gene NGS Genetic Test is to confirm the diagnosis of lung alpha-beta hydrol...
MAN2B1 Gene Mannosidosis-alpha NGS Genetic Test
To diagnose alpha-mannosidosis by identifying mutations in the MAN2B1 gene using NGS technology. Thi...
DBT Gene Maple syrup urine disease type 2 NGS Genetic Test
The purpose of the DBT Gene NGS Genetic Test is to identify pathogenic mutations in the DBT gene, co...
LPA Gene LPA deficiency, congenital NGS Genetic Test
To detect pathogenic or likely pathogenic mutations in the LPA gene using Next Generation Sequencing...
DLD Gene Maple syrup urine disease type 3 NGS Genetic Test
To diagnose Maple Syrup Urine Disease Type 3 by detecting mutations in the DLD gene and to identify...
ACP2 Gene Lysosomal acid phosphatase deficiency NGS Genetic Test
The purpose of the ACP2 Gene Lysosomal Acid Phosphatase Deficiency NGS Genetic Test is to detect mut...
PAX4 Gene Maturity-onset diabetes of the young type 9 NGS Genetic Test
To diagnose Maturity-onset diabetes of the young type 9 (MODY9) by detecting mutations in the PAX4 g...
PPM1K Gene Maple syrup urine disease, mild variant NGS Genetic Test
The primary purpose of the PPM1K Gene Maple Syrup Urine Disease Mild Variant NGS Genetic Test is to...
MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic Test
To identify mutations in the MT-TL1 gene for diagnosis of MELAS syndrome and related mitochondrial d...
HNF1B Gene Maturity-onset diabetes of the young type 5 NGS Genetic Test
The purpose of the HNF1B Gene MODY Type 5 NGS Genetic Test is to detect pathogenic or likely pathoge...
ALDH6A1 Gene Methylmalonate semialdehyde dehydrogenase deficiency NGS Genetic Test
The purpose of this test is to diagnose ALDH6A1 gene methylmalonate semialdehyde dehydrogenase defic...
MTR Gene Methylcobalamin deficiency CblG type NGS Genetic Test
To identify mutations in the MTR gene associated with methylcobalamin deficiency CblG type for accur...
MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test
The purpose of the MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test is to confirm a dia...
VEGFA Gene Microvascular complications of diabetes type 1 NGS Genetic Test
To detect mutations in the VEGFA gene associated with an increased risk of microvascular complicatio...
MMAA Gene Methylmalonic aciduria CblA type NGS Genetic Test
The purpose of this test is to identify mutations in the MMAA gene responsible for CblA type methylm...
CD320 Gene Methylmalonic aciduria CblR type NGS Genetic Test
To diagnose Methylmalonic aciduria CblR type by detecting mutations in the CD320 gene using Next-Gen...
MVK Gene Mevalonic aciduria NGS Genetic Test
The purpose of this test is to diagnose mevalonic aciduria by identifying mutations in the MVK gene,...
MMAB Gene Methylmalonic aciduria CblB type NGS Genetic Test
To diagnose methylmalonic aciduria CblB type by identifying pathogenic mutations in the MMAB gene us...
MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic Test
The purpose of this test is to diagnose Methylmalonyl-CoA epimerase deficiency by identifying mutati...
MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NGS Genetic Test
The purpose of the MMUT Gene NGS Genetic Test is to identify mutations in the MMUT gene responsible...
ABCD4 Gene Methylmalonic aciduria CblJ type NGS Genetic Test
The purpose of the ABCD4 Gene Methylmalonic Aciduria CblJ Type NGS Genetic Test is to confirm a mole...
UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test
The purpose of this test is to identify mutations in the UQCC2 gene for definitive diagnosis of Mito...
SAMD9 Gene Mirage syndrome NGS Genetic Test
To identify mutations in the SAMD9 gene associated with Mirage syndrome for diagnostic confirmation,...
MOCS2 Gene Molybdenum cofactor deficiency type B NGS Genetic Test
The purpose of this test is to diagnose Molybdenum Cofactor Deficiency Type B by detecting mutations...
IDS Gene Mucopolysaccharidosis type 2 NGS Genetic Test
To diagnose Mucopolysaccharidosis type 2 by detecting mutations in the IDS gene using Next-Generatio...
HGSNAT Gene Mucopolysaccharidosis type 3C NGS Genetic Test
To identify mutations in the HGSNAT gene that cause Mucopolysaccharidosis type 3C, aiding in diagnos...
SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic Test
The purpose of the SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency NGS Genetic Test is to iden...
GNS Gene Mucopolysaccharidosis type 3D NGS Genetic Test
To diagnose Mucopolysaccharidosis type 3D by identifying mutations in the GNS gene, enabling early t...
MCOLN1 Gene Mucolipidosis type 4 NGS Genetic Test
To diagnose Mucolipidosis type 4 by identifying mutations in the MCOLN1 gene using next-generation s...
NAGLU Gene Mucopolysaccharidosis type 3B NGS Genetic Test
To identify pathogenic mutations in the NAGLU gene for accurate diagnosis of Mucopolysaccharidosis t...
SGSH Gene Mucopolysaccharidosis type 3A NGS Genetic Test
To confirm diagnosis of Mucopolysaccharidosis type 3A by detecting mutations in the SGSH gene, guide...
IDUA Gene Mucopolysaccharidosis type 1H NGS Genetic Test
To detect mutations in the IDUA gene for accurate diagnosis of Mucopolysaccharidosis type 1H, enabli...
RFX6 Gene Mitchell-Riley syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the RFX6 gene to confirm or rule out a diagnosis...
GALNS Gene Mucopolysaccharidosis type 4A NGS Genetic Test
To diagnose Mucopolysaccharidosis type 4A by detecting mutations in the GALNS gene using NGS technol...
PHKA1 Gene Muscle glycogenosis NGS Genetic Test
To diagnose PHKA1 gene mutations causing muscle glycogenosis by detecting pathogenic variants throug...
GLB1 Gene Mucopolysaccharidosis type 4B NGS Genetic Test
The purpose of this test is to accurately diagnose Mucopolysaccharidosis type 4B by detecting pathog...
HYAL1 Gene Mucopolysaccharidosis type 9 NGS Genetic Test
To identify pathogenic mutations in the HYAL1 gene for the diagnosis of Mucopolysaccharidosis type 9...
ALPL Gene Odontohypophosphatasia NGS Genetic Test
The purpose of the ALPL Gene Odontohypophosphatasia NGS Genetic Test is to identify mutations in the...
NAGS Gene N-acetylglutamate synthase deficiency NGS Genetic Test
To diagnose N-acetylglutamate synthase deficiency by detecting mutations in the NAGS gene using Next...
NPC2 Gene Niemann-Pick disease type C2 NGS Genetic Test
To identify mutations in the NPC2 gene for definitive diagnosis of Niemann-Pick disease type C2, ena...
NEU1 Gene Neuraminidase deficiency NGS Genetic Test
The purpose of this test is to diagnose neuraminidase deficiency by identifying mutations in the NEU...
NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test
To diagnose Niemann-Pick disease type C1 by identifying mutations in the NPC1 gene using next-genera...
OTC Gene Ornithine transcarbamoylase deficiency NGS Genetic Test
To diagnose ornithine transcarbamoylase deficiency (OTCD), identify carriers, and guide treatment an...
UMPS Gene Orotic aciduria NGS Genetic Test
The purpose of the UMPS Gene Orotic Aciduria NGS Genetic Test is to identify mutations in the UMPS g...
GUSB Gene Mucopolysaccharidosis type 7 NGS Genetic Test
The purpose of the GUSB Gene Mucopolysaccharidosis Type VII NGS Genetic Test is to identify pathogen...
ARSB Gene Mucopolysaccharidosis type 6 NGS Genetic Test
The primary purpose of the ARSB Gene Mucopolysaccharidosis Type VI NGS Genetic Test is to identify p...
DCXR Gene Pentosuria NGS Genetic Test
To detect mutations in the DCXR gene for diagnosis of Pentosuria.
PTF1A Gene Pancreatic agenesis type 2 NGS Genetic Test
The purpose of the PTF1A Gene Pancreatic Agenesis Type 2 NGS Genetic Test is to provide a definitive...
PAH Gene Phenylketonuria NGS Genetic Test
To identify mutations in the PAH gene for accurate diagnosis of Phenylketonuria (PKU), enabling earl...
PHGDH Gene Phosphoglycerate dehydrogenase deficiency NGS Genetic Test
To diagnose PHGDH deficiency by detecting mutations in the PHGDH gene using NGS technology, guiding...
PSPH Gene Phosphoserine phosphatase deficiency NGS Genetic Test
The purpose of this test is to accurately diagnose phosphoserine phosphatase deficiency by identifyi...
PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency, mitochondrial NGS Genetic Test
The purpose of this test is to identify mutations in the PCK2 gene using next-generation sequencing...
SLC7A5 Gene Phenylketonuria modifier, SLC7A5 related NGS Genetic Test
To identify mutations in the SLC7A5 gene that may modify the severity of Phenylketonuria (PKU), aidi...
GPR161 Gene Pituitary stalk interruption syndrome, GPR161 related NGS Genetic Test
The purpose of the GPR161 Gene NGS Genetic Test is to identify mutations in the GPR161 gene that may...
GAA Gene Pompe disease NGS Genetic Test
The purpose of this test is to identify mutations in the GAA gene to diagnose Pompe disease, confirm...
PSAT1 Gene Phosphoserine aminotransferase deficiency NGS Genetic Test
The primary purpose of this test is to identify pathogenic mutations in the PSAT1 gene to confirm or...
HMBS Gene Porphyria acute intermittent NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the HMBS gene to confirm the diagnosi...
UROS Gene Porphyria congenital erythropoietic NGS Genetic Test
To detect pathogenic mutations in the UROS gene for diagnosing Congenital Erythropoietic Porphyria,...
PEPD Gene Prolidase deficiency NGS Genetic Test
The purpose of this test is to diagnose PEPD Gene Prolidase Deficiency by detecting mutations in the...
PSAP Gene Prosaposin deficiency NGS Genetic Test
To diagnose PSAP gene prosaposin deficiency for early intervention, genetic counseling, and personal...
PCCA Gene Propionic acidemia NGS Genetic Test
This test is designed to identify genetic mutations in the PCCA gene, which is associated with propi...
PCK1 Gene Phosphoenolpyruvate carboxykinase deficiency, cytosolic NGS Genetic Test
The PCK1 Gene NGS Genetic Test is performed to identify pathogenic mutations in the PCK1 gene that c...
PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency NGS Genetic Test
To diagnose PNPO gene deficiency through genetic analysis, confirm clinical suspicion based on sympt...
PCCB Gene Propionic acidemia NGS Genetic Test
To detect mutations in the PCCB gene that cause propionic acidemia, aiding in accurate diagnosis, ca...
PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the PRPS1 gene t...
ALAS2 Gene Protoporphyria, erythropoietic, X-linked NGS Genetic Test
The purpose of the ALAS2 Gene Protoporphyria NGS Genetic Test is to identify pathogenic or likely pa...
PDHA1 Gene Pyruvate dehydrogenase E1-alpha deficiency NGS Genetic Test
To identify mutations in the PDHA1 gene causing Pyruvate dehydrogenase E1-alpha deficiency for accur...
PDHB Gene Pyruvate dehydrogenase E1-beta deficiency NGS Genetic Test
To identify pathogenic mutations in the PDHB gene for accurate diagnosis of pyruvate dehydrogenase E...
DLAT Gene Pyruvate dehydrogenase E2 deficiency NGS Genetic Test
To identify mutations in the DLAT gene associated with Pyruvate dehydrogenase E2 deficiency, aiding...
LIAS Gene Pyruvate dehydrogenase lipoic acid synthetase deficiency NGS Genetic Test
The purpose of this test is to identify mutations in the LIAS gene that cause pyruvate dehydrogenase...
PC Gene Pyruvate carboxylase deficiency NGS Genetic Test
To diagnose Pyruvate Carboxylase Deficiency by identifying mutations in the PC gene using NGS techno...
PEX7 Gene Refsum disease NGS Genetic Test
The purpose of the PEX7 Gene Refsum Disease NGS Genetic Test is to accurately diagnose Refsum diseas...
PHYH Gene Refsum disease NGS Genetic Test
To diagnose Refsum disease by detecting pathogenic mutations in the PHYH gene through NGS, enabling...
PDP1 Gene Pyruvate dehydrogenase phosphatase deficiency NGS Genetic Test
The purpose of this test is to identify mutations in the PDP1 gene that cause pyruvate dehydrogenase...
RPIA Gene Ribose 5-phosphate isomerase deficiency NGS Genetic Test
To diagnose RPIA gene mutations causing ribose 5-phosphate isomerase deficiency through Next-Generat...
SLC52A1 Gene Riboflavin deficiency NGS Genetic Test
To identify mutations in the SLC52A1 gene that cause riboflavin transporter deficiency, aiding in di...
PKLR Gene Pyruvate kinase deficiency with hemolytic anemia NGS Genetic Test
The purpose of the PKLR Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutatio...
CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic Test
The purpose of this test is to detect mutations in the CYP2R1 gene that cause vitamin D 25-hydroxyla...
HEXB Gene Sandhoff disease NGS Genetic Test
To diagnose Sandhoff disease by detecting mutations in the HEXB gene using Next Generation Sequencin...
IDUA Gene Scheie syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the IDUA gene associated with Scheie...
NAGA Gene Schindler disease NGS Genetic Test
To diagnose Schindler disease by identifying pathogenic mutations in the NAGA gene using next-genera...
SARDH Gene Sarcosinemia NGS Genetic Test
To detect pathogenic mutations in the SARDH gene responsible for sarcosinemia, enabling accurate dia...
OXCT1 Gene Succinyl CoA:3-oxoacid CoA transferase deficiency NGS Genetic Test
The purpose of this test is to diagnose Succinyl CoA:3-oxoacid CoA transferase deficiency by identif...
SI Gene Sucrase-isomaltase deficiency NGS Genetic Test
To detect mutations in the SI gene responsible for sucrase-isomaltase deficiency, aiding in accurate...
SFTPD Gene Surfactant metabolism dysfunction NGS Genetic Test
To detect genetic mutations in the SFTPD gene associated with surfactant metabolism dysfunction, aid...
SFTPB Gene Surfactant metabolism dysfunction type 1 NGS Genetic Test
To diagnose Surfactant Metabolism Dysfunction Type 1 by detecting mutations in the SFTPB gene using...
SUOX Gene Sulfite oxidase deficiency NGS Genetic Test
To detect mutations in the SUOX gene for the diagnosis, management, and genetic counseling of sulfit...
CSF2RA Gene Surfactant metabolism dysfunction type 4 NGS Genetic Test
To detect pathogenic mutations in the CSF2RA gene using Next-Generation Sequencing for the diagnosis...
ABCA3 Gene Surfactant metabolism dysfunction type 3 NGS Genetic Test
To identify genetic mutations in the ABCA3 gene associated with surfactant metabolism dysfunction ty...
AASS Gene Saccharopinuria NGS Genetic Test
The purpose of the AASS Gene Saccharopinuria NGS Genetic Test is to detect pathogenic mutations in t...
HEXA Gene Tay-Sachs disease NGS Genetic Test
The purpose of the HEXA Gene Tay-Sachs Disease NGS Genetic Test is to diagnose Tay-Sachs disease by...
CSF2RB Gene Surfactant metabolism dysfunction type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the CSF2RB gene to diagnose surfactant metabolism...
ABCA1 Gene Tangier disease NGS Genetic Test
To detect mutations in the ABCA1 gene that cause Tangier disease, characterized by very low levels o...
TPK1 Gene Thiamine metabolism dysfunction syndrome type 5 NGS Genetic Test
The purpose of the TPK1 Gene THMD5 NGS Genetic Test is to diagnose Thiamine Metabolism Dysfunction S...
SFTPC Gene Surfactant metabolism dysfunction type 2 NGS Genetic Test
To identify mutations in the SFTPC gene that cause surfactant metabolism dysfunction type 2, aiding...
TJP1 Gene TJP1 deficiency NGS Genetic Test
To identify mutations in the TJP1 gene for accurate diagnosis of TJP1 deficiency, enabling early int...
FMO3 Gene Trimethylaminuria NGS Genetic Test
To diagnose Trimethylaminuria by detecting mutations in the FMO3 gene using Next Generation Sequenci...
HADHA Gene Trifunctional protein deficiency NGS Genetic Test
The purpose of this test is to diagnose HADHA gene trifunctional protein deficiency by identifying m...
FAH Gene Tyrosinemia type 1 NGS Genetic Test
The purpose of the FAH Gene Tyrosinemia Type 1 NGS Genetic Test is to detect mutations in the FAH ge...
HPD Gene Tyrosinemia type 3 NGS Genetic Test
To identify pathogenic mutations in the HPD gene for the diagnosis of Tyrosinemia Type 3, enabling e...
TAT Gene Tyrosinemia type 2 NGS Genetic Test
To detect mutations in the TAT gene for diagnosing Tyrosinemia Type 2, enabling early treatment and...
GSTZ1 Gene Tyrosinemia type 1B NGS Genetic Test
To identify mutations in the GSTZ1 gene for definitive diagnosis of Tyrosinemia Type 1B, guiding tre...
ECM1 Gene Urbach-Wiethe disease NGS Genetic Test
The purpose of the ECM1 Gene Urbach-Wiethe Disease NGS Genetic Test is to accurately diagnose Urbach...
G6PC Gene Von-Gierke disease NGS Genetic Test
To diagnose Von-Gierke Disease definitively by identifying mutations in the G6PC gene using NGS tech...
ATP7B Gene Wilson disease NGS Genetic Test
To diagnose Wilson disease by identifying pathogenic mutations in the ATP7B gene, confirm the geneti...
GALNT3 Gene Tumoral calcinosis, hyperphosphatemic, familial, type 1 NGS Genetic Test
The purpose of the GALNT3 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutat...
XDH Gene Xanthinuria type 1 NGS Genetic Test
To diagnose Xanthinuria type 1 by detecting mutations in the XDH gene using NGS technology, aiding i...
LIPA Gene Wolman disease NGS Genetic Test
To diagnose Wolman disease by detecting mutations in the LIPA gene using Next Generation Sequencing...
MOCOS Gene Xanthinuria type 2 NGS Genetic Test
To detect mutations in the MOCOS gene for the diagnosis of Xanthinuria type 2, aiding in clinical ma...
MT-TF Gene MELAS syndrome NGS Genetic Test
To diagnose MELAS syndrome by detecting pathogenic mutations in the MT-TF gene using Next Generation...
MT-TC Gene MELAS syndrome NGS Genetic Test
The purpose of the MT-TC Gene MELAS Syndrome NGS Genetic Test is to detect mutations in the MT-TC ge...
MT-TS1 Gene MERRF/MELAS overlap syndrome, MT-TS1 related NGS Genetic Test
To diagnose MT-TS1 gene mutations causing MERRF/MELAS overlap syndrome, confirm clinical suspicion,...
POMC Gene Obesity with adrenal insufficiency and red hair NGS Genetic Test
To detect mutations in the POMC gene that cause obesity, adrenal insufficiency, and red hair, enabli...
SLC6A14 Gene Obesity, susceptibility to, SLC6A14 related NGS Genetic Test
To identify genetic variations in the SLC6A14 gene that may contribute to obesity susceptibility, ai...
HADHB Gene Trifunctional protein deficiency NGS Genetic Test
To diagnose HADHB gene mutations causing trifunctional protein deficiency, enabling early interventi...
DHCR24 Gene Desmosterolosis NGS Genetic Test
To identify mutations in the DHCR24 gene for definitive diagnosis of Desmosterolosis, guiding clinic...
UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test
The purpose of the UQCC2 Gene Mitochondrial Complex III Deficiency NGS Genetic Test is to detect mut...
Glycogen Storage Disorder Gene Panel
To diagnose Glycogen Storage Disorder through genetic testing, identify specific mutations, and guid...
Hemochromatosis HFE Full Gene Sequence Analysis
The purpose of the Hemochromatosis HFE Full Gene Sequence Analysis is to detect mutations in the HFE...
Metabolic Disorder Gene Panel
The purpose of the Metabolic Disorder Gene Panel test is to detect genetic mutations responsible for...
12S rRNA Sequencing
The purpose of 12S rRNA sequencing is to detect mutations in the 12S ribosomal RNA gene of the mitoc...
Amino Acids Quantitative Blood: 10 Amino Acids Test
This test is used to assess amino acid balance, detect nutritional deficiencies, screen for inherite...
IMD Panel Extended Test
The panel evaluates amino acids, organic acids in urine, acylcarnitine profile, and biotinidase acti...
Sphingolipidosis Panel 2 Test
The purpose of the Sphingolipidosis Panel 2 Test is to detect enzyme deficiencies that cause Gaucher...
Wilson Disease Panel Test
The purpose of the Wilson Disease Panel Test is to evaluate copper metabolism and detect liver invol...
CentoIEM NGS Genetic Test
The purpose of this test is to identify genetic mutations responsible for inherited metabolic disord...
NGSMito Comprehensive NGS Genetic Test
The primary purpose of NGSMito Comprehensive NGS Genetic Test is to identify disease-causing variant...
MT-CO1 Gene Cytochrome c oxidase 1 deficiency NGS Genetic Test
The purpose of this test is to identify clinically significant variants in the MT-CO1 gene that are...
MT-CO3 Gene Cytochrome c oxidase 3 deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic sequence variants in the MT-CO3 gene that cause c...
MT-TL2 Gene Encephalomyopathy, mitochondrial, MT-TL2 related NGS Genetic Test
To identify pathogenic mutations in the MT-TL2 gene using NGS technology, aiding in the diagnosis of...
MT-TR Gene Encephalomyopathy, mitochondrial, MT-TR related NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the MT-TR gene and the c...
VDAC1 Gene Encephalopathy mitochondrial NGS Genetic Test
The primary purpose of this NGS genetic test is to detect pathogenic variants in the VDAC1 gene that...
MT-TW Gene Encephalopathy mitochondrial, MT-TW related NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the MT-TW gene, confir...
GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic Test
The purpose of this NGS-based genetic test is to detect pathogenic or likely pathogenic variants in...
NUBPL Gene Leigh syndrome NGS Genetic Test
This test is used to detect mutations in the NUBPL gene to confirm a diagnosis of Leigh syndrome or...
SDHA Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS-based test is to detect clinically significant variants in the SDHA gene ass...
SURF1 Gene Leigh syndrome due to COX deficiency NGS Genetic Test
To identify pathogenic variants in the SURF1 gene, enabling confirmation of Leigh syndrome due to CO...
NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the NDUFA12 gene...
MT-TL1 Gene MELAS syndrome, MT-TL1 related NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MT-TL1 gene in individuals with c...
MT-TP Gene MERRF syndrome, MT-TP related NGS Genetic Test
To confirm or exclude MERRF syndrome by identifying pathogenic variants in the MT-TP gene using next...
MT-ND1 Gene Mitochondrial complex I deficiency NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the MT-ND1 gene using advance...
MT-ND4L Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the MT-ND4L gene associated with mitoc...
MT-ND5 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MT-ND5 gene that cause mitochondr...
MT-ND4 Gene Mitochondrial complex I deficiency NGS Genetic Test
This test aims to detect pathogenic variants in the MT-ND4 gene using NGS. The results assist in con...
NDUFAF3 Gene Mitochondrial complex I deficiency NGS Genetic Test
To identify pathogenic variants in the NDUFAF3 gene associated with Mitochondrial Complex I deficien...
NDUFB3 Gene Mitochondrial complex I deficiency NGS Genetic Test
This test is used to diagnose mitochondrial complex I deficiency caused by mutations in the NDUFB3 g...
NDUFAF4 Gene Mitochondrial complex I deficiency NGS Genetic Test
To confirm suspected NDUFAF4-related mitochondrial complex I deficiency by detection of pathogenic v...
NDUFA1 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing genetic variants in the NDUFA1 gen...
SDHAF1 Gene Mitochondrial complex II deficiency NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SDHAF1 gene that may ca...
NDUFS2 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the NDUFS2 gene associated...
UQCRC2 Gene Mitochondrial complex III deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the UQCRC2 gene associated with mitoch...
MT-TN Gene Mitochondrial complex I deficiency, MT-TN related NGS Genetic Test
This NGS test is used to detect pathogenic or likely pathogenic variants in the MT-TN gene in indivi...
NDUFAF5 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the NDUFAF5 gene, confirm a clinical...
MT-ATP6 Gene Mitochondrial complex V (ATP synthase) deficiency NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the MT-ATP6 gene that cause m...
ATP5F1A Gene Mitochondrial complex V deficiency, nuclear type 4 NGS Genetic Test
The purpose of this NGS-based test is to identify a disease-causing variant in the ATP5F1A gene in p...
SUCLA2 Gene Mitochondrial DNA depletion syndrome NGS Genetic Test
To detect pathogenic variants in the SUCLA2 gene associated with Mitochondrial DNA Depletion Syndrom...
TMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 NGS Genetic Test
To detect pathogenic variants in the TMEM70 gene associated with nuclear type 2 mitochondrial comple...
ATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 NGS Genetic Test
To identify clinically significant sequence variants in the ATP5F1E gene using NGS technology in ord...
SDHA Gene Mitochondrial respiratory chain complex II deficiency NGS Genetic Test
To identify pathogenic variants in the SDHA gene associated with mitochondrial respiratory chain com...
MT-CYB Gene Mitochondrial encephalomyopathy NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the MT-CYB gene that may ex...
NFU1 Gene Multiple mitochondrial dysfunctions syndrome type 1 NGS Genetic Test
The purpose of the NFU1 gene MMDS1 NGS genetic test is to detect pathogenic or likely pathogenic var...
ISCA2 Gene Multiple mitochondrial dysfunctions syndrome type 4 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the ISCA2 gene that cause...
GAA Gene Pompe disease NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the GAA gene, which is responsible for...
CYP17A1 Gene 17-hydroxylation activity deficiency NGS Genetic Test
To identify mutations in the CYP17A1 gene that cause 17-hydroxylation activity deficiency, aiding in...
DECR1 Gene 2,4-dienoyl-CoA reductase 1 NGS Genetic Test
The purpose of the DECR1 Gene 2,4-dienoyl-CoA reductase 1 NGS Genetic Test is to identify mutations...
NADK2 Gene 2,4-dienoyl-CoA reductase deficiency NGS Genetic Test
To diagnose NADK2 gene mutations causing 2,4-dienoyl-CoA reductase deficiency for accurate clinical...
ACADSB Gene 2-methylbutyrylglycinuria NGS Genetic Test
The purpose of this test is to diagnose 2-methylbutyrylglycinuria by identifying mutations in the AC...
DHTKD1 Gene 2-aminoadipic 2-oxoadipic aciduria NGS Genetic Test
The purpose of this test is to identify mutations in the DHTKD1 gene that cause 2-aminoadipic 2-oxoa...
HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic Test
To diagnose HMGCL gene mutations causing 3-hydroxy-3-methylglutaryl-CoA lyase deficiency for early i...
HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic Test
To identify mutations in the HIBCH gene for diagnosis of 3-hydroxyisobutryl-CoA hydrolase deficiency...
HADH Gene 3-hydroxyacyl-CoA dehydrogenase deficiency NGS Genetic Test
The purpose of the HADH Gene NGS Genetic Test is to diagnose 3-hydroxyacyl-CoA dehydrogenase deficie...
HMGCS2 Gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency NGS Genetic Test
To diagnose 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency through genetic analysis, enabling...
MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency NGS Genetic Test
To diagnose 3-methylcrotonyl-CoA carboxylase 1 deficiency by detecting mutations in the MCCC1 gene u...
AUH Gene 3-methylglutaconic aciduria type 1 NGS Genetic Test
To identify mutations in the AUH gene for accurate diagnosis of 3-methylglutaconic aciduria type 1,...
OPA3 Gene 3-methylglutaconic aciduria type 3 NGS Genetic Test
To diagnose 3-methylglutaconic aciduria type 3 by detecting mutations in the OPA3 gene.
CLPB Gene 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia NGS Genetic Test
To identify mutations in the CLPB gene for accurate diagnosis of 3-methylglutaconic aciduria type 7...
DNAJC19 Gene 3-methylglutaconic aciduria type 5 NGS Genetic Test
To identify mutations in the DNAJC19 gene for definitive diagnosis of 3-methylglutaconic aciduria ty...
MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic Test
The purpose of the MCCC2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutati...
APOA2 Gene Apolipoprotein A-II deficiency NGS Genetic Test
To identify mutations in the APOA2 gene that cause Apolipoprotein A-II deficiency, aiding in the dia...
AMPD3 Gene AMP deaminase deficiency, erythrocytic NGS Genetic Test
To diagnose AMPD3 gene mutations associated with AMP deaminase deficiency in erythrocytes, aiding in...
APOC2 Gene Apolipoprotein C-II deficiency NGS Genetic Test
To diagnose Apolipoprotein C-II deficiency by identifying mutations in the APOC2 gene using NGS tech...
ARG1 Gene Arginase deficiency NGS Genetic Test
To identify pathogenic mutations in the ARG1 gene associated with arginase deficiency, aiding in dia...
GATM Gene Arginine-glycine amidinotransferase deficiency NGS Genetic Test
To diagnose Arginine-glycine amidinotransferase deficiency through genetic testing, enabling early i...
ASNS Gene Asparaginesynthetase deficiency NGS Genetic Test
The purpose of the ASNS Gene Asparagine Synthetase Deficiency NGS Genetic Test is to identify pathog...
DDC Gene Aromatic L-amino acid decarboxylase deficiency (AADC) NGS Genetic Test
To identify mutations in the DDC gene for diagnosing Aromatic L-amino acid decarboxylase deficiency...
ASL Gene Argininosuccinic aciduria NGS Genetic Test
To identify mutations in the ASL gene for definitive diagnosis of argininosuccinic aciduria, guiding...
HSD11B2 Gene Apparent mineralocorticoid excess NGS Genetic Test
To detect mutations in the HSD11B2 gene for diagnosing Apparent Mineralocorticoid Excess.
ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency NGS Genetic Test
The purpose of this test is to diagnose ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase...
UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test
To diagnose Beta-ureidopropionase deficiency by identifying mutations in the UPB1 gene using Next Ge...
CYP7B1 Gene Bile acid synthesis defect type 3, congenital NGS Genetic Test
The purpose of this test is to diagnose CYP7B1 gene bile acid synthesis defect type 3 by detecting m...
AMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic Test
The purpose of this test is to identify mutations in the AMACR gene for the diagnosis of bile acid s...
BCAT1 Gene Branched-chain aminotransferase 1 deficiency NGS Genetic Test
To diagnose BCAT1 gene mutations causing branched-chain aminotransferase 1 deficiency, enabling earl...
HSD3B7 Gene Bile acid synthesis defect type 1, congenital NGS Genetic Test
The purpose of this test is to detect mutations in the HSD3B7 gene responsible for bile acid synthes...
COMT Gene Catechol-o-methyltransferase deficiency NGS Genetic Test
To diagnose Catechol-o-methyltransferase deficiency by detecting mutations in the COMT gene using NG...
COQ6 Gene Coenzyme Q10 deficiency type 6 NGS Genetic Test
The purpose of the COQ6 Gene Coenzyme Q10 Deficiency Type 6 NGS Genetic Test is to diagnose Coenzyme...
COQ4 Gene Coenzyme Q10 deficiency type 7 NGS Genetic Test
To diagnose COQ4 gene mutations leading to Coenzyme Q10 deficiency type 7, enabling early interventi...
MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 NGS Genetic Test
To detect mutations in the MRPL44 gene for the diagnosis of Combined Oxidative Phosphorylation Defic...
ACSF3 Gene Combined malonic and methylmalonic aciduria NGS Genetic Test
The purpose of this test is to identify mutations in the ACSF3 gene to diagnose Combined Malonic and...
TARS2 Gene Combined oxidative phosphorylation deficiency type 21 NGS Genetic Test
To diagnose TARS2 gene mutations causing Combined Oxidative Phosphorylation Deficiency Type 21, enab...
SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria NGS Genetic Test
To detect pathogenic mutations in the SLC25A1 gene for accurate diagnosis of combined D-2- and L-2-h...
TRMT5 Gene Combined oxidative phosphorylation deficiency type 26 NGS Genetic Test
To diagnose Combined oxidative phosphorylation deficiency type 26 (COXPD26) by detecting pathogenic...
CTH Gene Cystathioninuria NGS Genetic Test
To detect mutations in the CTH gene for the diagnosis of cystathioninuria, a metabolic disorder.
CFTR Gene Cystic fibrosis NGS Genetic Test
To identify mutations in the CFTR gene for diagnosis of cystic fibrosis, assess carrier status, guid...
AVPR2 Gene Diabetes insipidus, nephrogenic, X-linked NGS Genetic Test
To identify mutations in the AVPR2 gene causing nephrogenic diabetes insipidus for accurate diagnosi...
ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 NGS Genetic Test
To diagnose mutations in the ELAC2 gene associated with combined oxidative phosphorylation deficienc...
IDH2 Gene D-2-hydroxyglutaric aciduria type 2 NGS Genetic Test
To diagnose D-2-hydroxyglutaric aciduria type 2 by detecting mutations in the IDH2 gene using Next G...
AVP Gene Diabetes insipidus, neurohypophyseal NGS Genetic Test
The purpose of this test is to detect mutations in the AVP gene that cause neurohypophyseal diabetes...
ABCC8 Gene Diabetes mellitus, noninsulin-dependent NGS Genetic Test
The purpose of this test is to detect mutations in the ABCC8 gene that are linked to an increased ri...
ABCC8 Gene Diabetes mellitus, permanent neonatal NGS Genetic Test
The purpose of this test is to diagnose ABCC8 gene-related permanent neonatal diabetes by detecting...
DMGDH Gene Dimethylglycine dehydrogenase deficiency NGS Genetic Test
The purpose of this test is to diagnose DMGDH gene dimethylglycine dehydrogenase deficiency by detec...
KCNJ11 Gene Diabetes mellitus, noninsulin-dependent NGS Genetic Test
To identify genetic mutations in the KCNJ11 gene that may cause or predispose individuals to noninsu...
FANCA Gene Fanconi anemia type A NGS Genetic Test
To identify mutations in the FANCA gene for accurate diagnosis of Fanconi Anemia Type A, aiding in e...
KHK Gene Fructosuria essential NGS Genetic Test
To detect mutations in the KHK gene for accurate diagnosis of fructosuria essential, enabling early...
PSAP Gene Gaucher disease, atypical NGS Genetic Test
The purpose of the PSAP Gene Gaucher Disease Atypical NGS Genetic Test is to identify mutations in t...
GBA Gene Gaucher disease, perinatal lethal NGS Genetic Test
The purpose of this test is to diagnose Gaucher disease, particularly the perinatal lethal form, by...
ALG8 Gene Glycosylation disorder type 1H NGS Genetic Test
To detect pathogenic mutations in the ALG8 gene responsible for glycosylation disorder type 1H, aidi...
SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic Test
The purpose of the SLC6A9 gene glycine encephalopathy NGS genetic test is to identify mutations in t...
ALG12 Gene Glycosylation disorder type 1G NGS Genetic Test
The purpose of the ALG12 Gene Glycosylation Disorder Type 1G NGS Genetic Test is to detect mutations...
SUGCT Gene Glutaric aciduria type 3 NGS Genetic Test
The purpose of the SUGCT Gene Glutaric Aciduria Type 3 NGS Genetic Test is to identify pathogenic mu...
SLC35A1 Gene Glycosylation disorder type 2F NGS Genetic Test
To identify mutations in the SLC35A1 gene associated with Glycosylation Disorder Type 2F, aiding in...
ETFDH Gene Glutaric acidemia type 2C NGS Genetic Test
The purpose of the ETFDH Gene Glutaric acidemia type 2C NGS Genetic Test is to identify pathogenic o...
COG1 Gene Glycosylation disorder type 2G NGS Genetic Test
To identify mutations in the COG1 gene for diagnosing Glycosylation Disorder Type 2G, guiding treatm...
COG8 Gene Glycosylation disorder type 2H NGS Genetic Test
To identify pathogenic variants in the COG8 gene responsible for Glycosylation Disorder Type 2H, ena...
HFE Gene Hemochromatosis classical NGS Genetic Test
To diagnose HFE Gene Hemochromatosis by identifying mutations in the HFE gene using Next-Generation...
CYP24A1 Gene Hypercalcemia infantile type NGS Genetic Test
To diagnose hypercalcemia infantile type by detecting mutations in the CYP24A1 gene using NGS techno...
CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic Test
To diagnose CA5A gene mutations causing hyperammonemia due to Carbonic Anhydrase VA Deficiency, enab...
CA12 Gene Hyperchlorhidrosis, isolated NGS Genetic Test
The purpose of this test is to detect mutations in the CA12 gene associated with hyperchlorhidrosis,...
TJP2 Gene Hypercholanemia NGS Genetic Test
The purpose of this test is to identify mutations in the TJP2 gene that cause hypercholanemia, enabl...
PCBD1 Gene Hyperphenylalaninemia, BH4 deficient, type D NGS Genetic Test
The purpose of this test is to detect mutations in the PCBD1 gene to diagnose BH4 deficient hyperphe...
AP2S1 Gene Hypocalciuric hypercalcemia, familial type 3 NGS Genetic Test
The purpose of this test is to identify mutations in the AP2S1 gene that cause familial hypocalciuri...
SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic Test
To detect mutations in the SLC34A3 gene for diagnosis of hypophosphatemic rickets with hypercalciuri...
ALPL Gene Hypophosphatasia, infantile NGS Genetic Test
To identify mutations in the ALPL gene for definitive diagnosis of infantile hypophosphatasia, asses...
PCSK9 Gene Hypercholesterolemia autosomal dominant type 3 NGS Genetic Test
The purpose of the PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 NGS Genetic Test is to...
IGF1R Gene Insulin-like growth factor resistance NGS Genetic Test
The purpose of the IGF1R Gene NGS Genetic Test is to accurately diagnose mutations in the IGF1R gene...
ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency NGS Genetic Test
To identify mutations in the ACAD8 gene responsible for Isobutyryl-CoA dehydrogenase deficiency, ena...
IVD Gene Isovaleric acidemia NGS Genetic Test
The purpose of this test is to confirm a diagnosis of isovaleric acidemia by detecting pathogenic va...
GALC Gene Krabbe disease NGS Genetic Test
To diagnose Krabbe disease by identifying mutations in the GALC gene using Next-Generation Sequencin...
PSAP Gene Krabbe disease, atypical NGS Genetic Test
To diagnose Krabbe disease caused by PSAP gene mutations using next-generation sequencing technology...
L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic Test
To identify pathogenic mutations in the L2HGDH gene for accurate diagnosis of L-2-hydroxyglutaric ac...
MCM6 Gene Lactose intolerance, adult type NGS Genetic Test
To identify genetic mutations in the MCM6 gene associated with adult-type lactose intolerance, aidin...
INS Gene Maturity-onset diabetes of the young type 10 NGS Genetic Test
To diagnose Maturity-onset diabetes of the young type 10 by detecting mutations in the INS gene usin...
ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test
The purpose of this test is to diagnose Metachromatic Leukodystrophy by identifying mutations in the...
LMBRD1 Gene Methylmalonic aciduria CblF type NGS Genetic Test
To diagnose methylmalonic aciduria CblF type by detecting mutations in the LMBRD1 gene using NGS tec...
ZFP57 Gene Maturity-onset diabetes of the young, ZFP57 related NGS Genetic Test
To identify mutations in the ZFP57 gene that are associated with maturity-onset diabetes of the youn...
SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic Test
To diagnose mitochondrial phosphate carrier deficiency by detecting pathogenic mutations in the SLC2...
MPC1 Gene Mitochondrial pyruvate carrier deficiency NGS Genetic Test
To diagnose mitochondrial pyruvate carrier deficiency by identifying mutations in the MPC1 gene usin...
GNPTAB Gene Mucolipidosis type 3 NGS Genetic Test
To diagnose Mucolipidosis type 3 by detecting pathogenic mutations in the GNPTAB gene using NGS tech...
SLC9A3R1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 2 NGS Genetic Test
The purpose of the SLC9A3R1 Gene NGS Genetic Test is to diagnose Nephrolithiasis/Osteoporosis, Hypop...
PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test
The purpose of this test is to identify genetic mutations in the PUS1 gene that are associated with...
MT-TE Gene Mitochondrial myopathy, infantile, transient, MT-TE related NGS Genetic Test
The purpose of this test is to detect mutations in the MT-TE gene using NGS technology for the diagn...
MTHFR Gene Homocystinuria NGS Genetic Test
The purpose of the MTHFR Gene Homocystinuria NGS Genetic Test is to identify mutations in the MTHFR...
SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic Test
The purpose of this test is to diagnose Fanconi-Bickel Syndrome by identifying mutations in the SLC2...
GNMT Gene Glycine N-methyltransferase deficiency NGS Genetic Test
To diagnose Glycine N-methyltransferase deficiency by detecting mutations in the GNMT gene using nex...
GLDC Gene Glycine encephalopathy NGS Genetic Test
The purpose of the GLDC Gene Glycine Encephalopathy NGS Genetic Test is to confirm the diagnosis of...
GPD1 Gene Hypertriglyceridemia, transient infantile NGS Genetic Test
To detect pathogenic mutations in the GPD1 gene associated with transient infantile hypertriglycerid...
ATP7A Gene Menkes disease NGS Genetic Test
To confirm the diagnosis of Menkes disease and identify specific mutations in the ATP7A gene for acc...
GNAS Gene Pseudohypoparathyroidism type 1C NGS Genetic Test
To detect pathogenic mutations in the GNAS gene associated with Pseudohypoparathyroidism type 1C, ai...
UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test
The purpose of the UPB1 Gene Beta-ureidopropionase deficiency NGS Genetic Test is to identify mutati...
ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of hypermethioninemia due to adenosin...
AHCY Gene Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of AHCY gene hypermethioninemia with def...
PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of PUS1-related mitochondrial myopathy a...
Lysosomal Storage Disorder Gene Panel
The purpose of the Lysosomal Storage Disorder Gene Panel is to identify pathogenic variants in genes...
Alpha Amino Adipic Aciduria Test
The purpose of the Alpha Amino Adipic Aciduria Test is to diagnose or rule out alpha amino adipic ac...
Mitochondrial Genome Sequencing and Analysis
The purpose of mitochondrial genome sequencing is to identify pathogenic variants in the mitochondri...
Mitochondrial Genome Sequencing
The purpose of mitochondrial genome sequencing is to detect pathogenic variants in the mitochondrial...
Mitochondrial Genome Sequencing Data Analysis
The purpose of mitochondrial genome sequencing data analysis is to identify genetic variations in th...