Molecular Diagnostics & DNA Testing
DNA Labs India | Diagnostic Tests
Molecular Diagnostics & DNA Testing
Clinical Overview
Sub-category mapping under Biochemistry & Metabolism
| 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
Alkaptonuria Urine Qualitative Test
To qualitatively detect homogentisic acid in urine for the diagnosis of Alkaptonuria, a rare inherit...
Amino Acids Qualitative One Dimensional Urine Test
The Amino Acids Qualitative One Dimensional Urine Test is primarily used to screen for inborn errors...
Arginase Test
To diagnose arginase deficiency and assess the severity of the condition by measuring arginase enzym...
Biotinidase Activity Quantitative Blood Test
This test is essential to quantitatively measure the activity of the biotinidase enzyme in the blood...
Orotic Acid Test
The Orotic Acid Test is performed to diagnose Orotic Aciduria and other urea cycle disorders by meas...
Tryptophan Quantitative Plasma Test
To quantify tryptophan levels in plasma for diagnosing inborn errors of metabolism, assessing nutrit...
Lysosomal Storage Disorders Enzyme Panel NGS Genetic Test
To diagnose Lysosomal Storage Disorders by identifying genetic mutations associated with enzyme defi...
Diabetes and obesity panel NGS Genetic Test
To identify genetic risk factors for diabetes and obesity, aiding in personalized prevention, early...
ACACA Gene Acetyl-CoA carboxylase deficiency NGS Genetic Test
The purpose of the ACACA Gene NGS Genetic Test is to diagnose Acetyl-CoA carboxylase deficiency by i...
ETFA Gene Acyl-CoA multiple dehydrogenase deficiency NGS Genetic Test
To identify mutations in the ETFA gene for accurate diagnosis of Acyl-CoA multiple dehydrogenase def...
ADSL Gene Adenylosuccinase deficiency NGS Genetic Test
To detect pathogenic mutations in the ADSL gene for diagnosing adenylosuccinase deficiency, a metabo...
ACADM Gene Acyl-CoA medium-chain dehydrogenase deficiency NGS Genetic Test
The purpose of the ACADM Gene NGS Genetic Test is to diagnose Acyl-CoA Medium-Chain Dehydrogenase De...
APOA1 Gene Amyloidosis, familial visceral NGS Genetic Test
The purpose of this test is to identify mutations in the APOA1 gene that cause familial visceral amy...
CPT1B Gene Carnitine palmitoyltransferase 1B deficiency NGS Genetic Test
To accurately diagnose CPT1B Gene Carnitine Palmitoyltransferase 1B deficiency using advanced NGS te...
CPT1A Gene Carnitine palmitoyltransferase 1A deficiency NGS Genetic Test
To diagnose Carnitine palmitoyltransferase 1A deficiency by identifying mutations in the CPT1A gene...
CPT2 Gene Carnitine palmitoyltransferase 2 deficiency, lethal neonatal NGS Genetic Test
To identify mutations in the CPT2 gene responsible for carnitine palmitoyltransferase 2 deficiency,...
SLC25A20 Gene Carnitine-acylcarnitine translocase deficiency NGS Genetic Test
To identify pathogenic mutations in the SLC25A20 gene for the diagnosis of carnitine-acylcarnitine t...
CLN8 Gene Ceroid lipofuscinosis neuronal type 8 NGS Genetic Test
To identify mutations in the CLN8 gene for early diagnosis of Ceroid Lipofuscinosis Neuronal Type 8,...
ABCB4 Gene Cholestasis intrahepatic, of pregnancy, type 3 NGS Genetic Test
To detect mutations in the ABCB4 gene that cause intrahepatic cholestasis of pregnancy type 3, enabl...
SLC25A13 Gene Citrin deficiency NGS Genetic Test
To detect mutations in the SLC25A13 gene for accurate diagnosis of citrin deficiency, enabling early...
C12ORF65 Gene Combined oxidative phosphorylation deficiency type 7 NGS Genetic Test
The purpose of this test is to diagnose Combined Oxidative Phosphorylation Deficiency Type 7 (COXPD7...
STT3A Gene Congenital disorder of glycosylation, type Iw NGS Genetic Test
The purpose of the STT3A Gene CDG Type Iw NGS Genetic Test is to confirm a diagnosis of Congenital D...
CPOX Gene Coproporphyria NGS Genetic Test
The purpose of the CPOX Gene Coproporphyria NGS Genetic Test is to diagnose Coproporphyria by identi...
D2HGDH Gene D-2-hydroxyglutaric aciduria type 1 NGS Genetic Test
To detect mutations in the D2HGDH gene for accurate diagnosis of D-2-hydroxyglutaric aciduria type 1...
SLC16A1 Gene Erythrocyte lactate transporter defect NGS Genetic Test
To diagnose mutations in the SLC16A1 gene associated with erythrocyte lactate transporter defect, en...
ALG3 Gene Glycosylation disorder type 1D NGS Genetic Test
The purpose of this test is to identify mutations in the ALG3 gene to diagnose Glycosylation Disorde...
DPM1 Gene Glycosylation disorder type 1E NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the DPM1 gene using NGS technology f...
COG7 Gene Glycosylation disorder type 2E NGS Genetic Test
The purpose of the COG7 Gene Glycosylation Disorder Type 2E NGS Genetic Test is to identify pathogen...
SLC35C1 Gene Glycosylation disorder type 2C NGS Genetic Test
The purpose of this test is to detect mutations in the SLC35C1 gene to confirm a diagnosis of Glycos...
LARS2 Gene Hydrops, lactic acidosis, and sideroblastic anemia NGS Genetic Test
To identify mutations in the LARS2 gene that cause hydrops, lactic acidosis, and sideroblastic anemi...
HLCS Gene Holocarboxylase synthetase deficiency NGS Genetic Test
The purpose of this test is to diagnose Holocarboxylase Synthetase Deficiency by identifying pathoge...
ABCC8 Gene Hyperinsulinemic hypoglycemia type 1 NGS Genetic Test
To identify pathogenic mutations in the ABCC8 gene that cause Hyperinsulinemic Hypoglycemia Type 1,...
PRODH Gene Hyperprolinemia type 1 NGS Genetic Test
The purpose of the PRODH Gene Hyperprolinemia type 1 NGS Genetic Test is to provide a definitive dia...
PTS Gene Hyperphenylalaninemia, BH4-deficient, type A NGS Genetic Test
To identify pathogenic mutations in the PTS gene for the diagnosis of BH4-deficient hyperphenylalani...
FGF23 Gene Hypophosphatemic rickets, autosomal dominant NGS Genetic Test
To identify pathogenic mutations in the FGF23 gene that cause autosomal dominant hypophosphatemic ri...
MLYCD Gene Malonyl-CoA decarboxylase deficiency NGS Genetic Test
To detect mutations in the MLYCD gene that cause malonyl-CoA decarboxylase deficiency, aiding in dia...
BCKDHB Gene Maple syrup urine disease type 1b NGS Genetic Test
To identify pathogenic mutations in the BCKDHB gene for accurate diagnosis of Maple Syrup Urine Dise...
MMADHC Gene Methylmalonic aciduria CblD type NGS Genetic Test
To detect pathogenic mutations in the MMADHC gene for the diagnosis of Methylmalonic Aciduria CblD T...
GPHN Gene Molybdenum cofactor deficiency type C NGS Genetic Test
To identify mutations in the GPHN gene for diagnosis of Molybdenum Cofactor Deficiency Type C.
MOCS1 Gene Molybdenum cofactor deficiency type A NGS Genetic Test
The purpose of the MOCS1 Gene Molybdenum Cofactor Deficiency Type A NGS Genetic Test is to detect mu...
SMPD1 Gene Niemann-Pick disease type A/B NGS Genetic Test
The purpose of this test is to diagnose Niemann-Pick disease type A/B by identifying mutations in th...
PPOX Gene Porphyria variegata NGS Genetic Test
To diagnose Porphyria variegata by identifying pathogenic mutations in the PPOX gene using NGS techn...
SUMF1 Gene Sulfatase deficiency NGS Genetic Test
To detect mutations in the SUMF1 gene for the diagnosis of sulfatase deficiency, enabling early inte...
GM2A Gene Tay-Sachs disease AB variant NGS Genetic Test
To detect pathogenic variants in the GM2A and HEXA genes for accurate diagnosis of Tay-Sachs disease...
TCN2 Gene Transcobalamin II deficiency NGS Genetic Test
To diagnose Transcobalamin II deficiency by detecting mutations in the TCN2 gene using NGS technolog...
TALDO1 Gene Transaldolase deficiency NGS Genetic Test
To identify pathogenic mutations in the TALDO1 gene for the diagnosis of transaldolase deficiency, e...
Sphingolipidosis Panel 1 Test
To support the diagnosis of metachromatic leukodystrophy, GM1 gangliosidosis, GM2 gangliosidosis, Ga...
Sphingolipidosis Panel 3 Test
The purpose of this test is to diagnose specific types of sphingolipidosis, namely GM1 Gangliosidosi...
AGA Gene Aspartylglucosaminuria NGS Genetic Test
To diagnose Aspartylglucosaminuria by identifying pathogenic mutations in the AGA gene using Next Ge...
SLC10A2 Gene Bile acid malabsorption, primary NGS Genetic Test
The purpose of this test is to diagnose primary bile acid malabsorption by identifying pathogenic mu...
LIPA Gene Cholesteryl ester storage disease NGS Genetic Test
The purpose of the LIPA Gene NGS Genetic Test is to identify mutations in the LIPA gene responsible...
INSR Gene Diabetes mellitus, insulin-resistant with acanthosis nigricans NGS Genetic Test
To identify mutations in the INSR gene associated with insulin-resistant diabetes mellitus and acant...
DYM Gene Dyggve-Melchior-Clausen disease NGS Genetic Test
To detect mutations in the DYM gene for accurate diagnosis of Dyggve-Melchior-Clausen disease, enabl...
LCAT Gene Fish eye disease NGS Genetic Test
To detect mutations in the LCAT gene for diagnosis of Fish Eye Disease.
TMPRSS15 Gene Enterokinase deficiency NGS Genetic Test
To identify mutations in the TMPRSS15 gene for diagnosis of enterokinase deficiency, enabling approp...
GK Gene Glycerol kinase deficiency NGS Genetic Test
The purpose of this test is to detect mutations in the GK gene to confirm a diagnosis of glycerol ki...
SLC40A1 Gene Hemochromatosis type 4 NGS Genetic Test
To diagnose hemochromatosis type 4 by identifying pathogenic mutations in the SLC40A1 gene using Nex...
BAAT Gene Hypercholanemia NGS Genetic Test
To diagnose hypercholanemia by identifying mutations in the BAAT gene, confirm genetic basis of symp...
APOB Gene Hypobetalipoproteinemia type 1 NGS Genetic Test
To diagnose Hypobetalipoproteinemia type 1 by detecting mutations in the APOB gene using Next-Genera...
GNA11 Gene Hypocalcemia, autosomal dominant 2 NGS Genetic Test
To diagnose GNA11 Gene Hypocalcemia, Autosomal Dominant 2 through genetic analysis.
GNPTG Gene Mucolipidosis type 3 gamma NGS Genetic Test
To diagnose Mucolipidosis Type 3 Gamma by detecting mutations in the GNPTG gene using NGS technology...