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GTR Home > Laboratories > Dhiti Omics Technologies Private Ltd

Dhiti Omics Technologies Private Ltd

GTR Lab ID: 506065, Last updated:2022-02-08
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Personnel

Conditions and tests

  • 3 beta-Hydroxysteroid dehydrogenase deficiency1 test
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
  • 3-methylglutaconic aciduria type 11 test
  • 3-methylglutaconic aciduria type 51 test
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1 test
  • Acrodysostosis 1 with or without hormone resistance1 test
  • Acute myeloid leukemia1 test
  • Acyl-CoA dehydrogenase 9 deficiency1 test
  • Acyl-CoA oxidase deficiency1 test
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adiponectin deficiency1 test
  • Adrenoleukodystrophy1 test
  • Adult hypophosphatasia1 test
  • Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy1 test
  • Aganglionic megacolon2 tests
  • Aicardi-Goutieres syndrome 61 test
  • Alacrima, achalasia, and intellectual disability syndrome1 test
  • Alagille syndrome due to a NOTCH2 point mutation1 test
  • ALG1-congenital disorder of glycosylation1 test
  • ALG11-congenital disorder of glycosylation1 test
  • ALG12-congenital disorder of glycosylation1 test
  • ALG2-congenital disorder of glycosylation1 test
  • ALG3-congenital disorder of glycosylation1 test
  • ALG6-congenital disorder of glycosylation 1C1 test
  • ALG8 congenital disorder of glycosylation1 test
  • ALG9 congenital disorder of glycosylation1 test
  • alpha Thalassemia1 test
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Alport syndrome2 tests
  • Amish lethal microcephaly1 test
  • Andersen Tawil syndrome1 test
  • Arginase deficiency1 test
  • Argininosuccinate lyase deficiency1 test
  • Arrhythmogenic right ventricular dysplasia 21 test
  • Arterial calcification, generalized, of infancy, 11 test
  • Arthrogryposis, renal dysfunction, and cholestasis 11 test
  • Ataxia-telangiectasia syndrome1 test
  • Atrial fibrillation, familial, 102 tests
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 141 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 71 test
  • Atrial fibrillation, familial, 91 test
  • Atrophy1 test
  • Attenuated familial adenomatous polyposis1 test
  • Atypical hemolytic-uremic syndrome1 test
  • Atypical hemolytic-uremic syndrome with B factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with C3 anomaly1 test
  • Atypical hemolytic-uremic syndrome with I factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
  • Autosomal dominant Alport syndrome1 test
  • Autosomal recessive Alport syndrome1 test
  • Autosomal recessive limb-girdle muscular dystrophy1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
  • Autosomal recessive nonsyndromic hearing loss 971 test
  • B4GALT1-congenital disorder of glycosylation1 test
  • Baller-Gerold syndrome1 test
  • Bardet-Biedl syndrome1 test
  • Basal cell carcinoma, susceptibility to, 11 test
  • Beckwith-Wiedemann syndrome1 test
  • Benign recurrent intrahepatic cholestasis type 11 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • beta Thalassemia1 test
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
  • Biotin-responsive basal ganglia disease1 test
  • Biotinidase deficiency1 test
  • Birt-Hogg-Dube syndrome1 test
  • Bloom syndrome1 test
  • Bone osteosarcoma1 test
  • Branchiootorenal syndrome 11 test
  • Breast cancer 31 test
  • Breast cancer, early-onset1 test
  • Breast cancer, familial male1 test
  • Breast cancer, susceptibility to1 test
  • Breast-ovarian cancer, familial, susceptibility to, 11 test
  • Breast-ovarian cancer, familial, susceptibility to, 21 test
  • Breast-ovarian cancer, familial, susceptibility to, 31 test
  • Breast-ovarian cancer, familial, susceptibility to, 41 test
  • Brugada syndrome1 test
  • Brugada syndrome 12 tests
  • Brugada syndrome 21 test
  • Brugada syndrome 31 test
  • Brugada syndrome 51 test
  • Brugada syndrome 61 test
  • Brugada syndrome 71 test
  • Brugada syndrome 81 test
  • Brugada syndrome 91 test
  • C syndrome1 test
  • Carcinoma of colon1 test
  • Carcinoma of male breast1 test
  • Cardiac arrest1 test
  • Cardiac arrhythmia1 test
  • Cardiac arrhythmia, ankyrin-B-related1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
  • Carney complex1 test
  • Carney complex, type 11 test
  • Carney-Stratakis syndrome1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyl transferase 1A deficiency1 test
  • Carnitine palmitoyl transferase II deficiency, neonatal form1 test
  • Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
  • Catecholaminergic polymorphic ventricular tachycardia 11 test
  • Catecholaminergic polymorphic ventricular tachycardia 21 test
  • Catecholaminergic polymorphic ventricular tachycardia 41 test
  • Catecholaminergic polymorphic ventricular tachycardia 51 test
  • Charcot-Marie-Tooth disease type 4K1 test
  • Charcot-Marie-Tooth Neuropathy Type 2H/2K1 test
  • Childhood hypophosphatasia1 test
  • Childhood onset GLUT1 deficiency syndrome 21 test
  • Cholestasis, intrahepatic, of pregnancy, 11 test
  • Cholestasis, intrahepatic, of pregnancy, 31 test
  • Cholestasis, progressive familial intrahepatic, 41 test
  • Cholestasis, progressive familial intrahepatic, 51 test
  • Chronic kidney disease1 test
  • Citrullinemia type I1 test
  • Citrullinemia type II1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Classic homocystinuria1 test
  • Clinodactyly1 test
  • COACH syndrome 11 test
  • Cobalamin C disease1 test
  • Coenzyme Q10 deficiency, primary, 11 test
  • Coenzyme Q10 deficiency, primary, 31 test
  • Coffin-Siris syndrome 51 test
  • COG1 congenital disorder of glycosylation1 test
  • COG4-congenital disorder of glycosylation1 test
  • COG5-congenital disorder of glycosylation1 test
  • COG6-congenital disorder of glycosylation1 test
  • COG7 congenital disorder of glycosylation1 test
  • COG8-congenital disorder of glycosylation1 test
  • Colorectal / endometrial cancer1 test
  • Colorectal cancer, hereditary nonpolyposis, type 21 test
  • Colorectal cancer, susceptibility to, 101 test
  • Colorectal cancer, susceptibility to, 121 test
  • Combined malonic and methylmalonic acidemia1 test
  • Combined oxidative phosphorylation defect type 141 test
  • Combined oxidative phosphorylation defect type 151 test
  • Combined oxidative phosphorylation defect type 21 test
  • Combined oxidative phosphorylation defect type 41 test
  • Combined oxidative phosphorylation defect type 71 test
  • Combined PSAP deficiency1 test
  • Congenital adrenal hyperplasia1 test
  • Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1 test
  • Congenital bile acid synthesis defect 41 test
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
  • Congenital central hypoventilation2 tests
  • Congenital disorder of glycosylation1 test
  • Congenital disorder of glycosylation type 1E1 test
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital hyperammonemia, type I1 test
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
  • Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
  • Congenital myasthenic syndrome 121 test
  • Congenital myasthenic syndrome 131 test
  • Costello syndrome1 test
  • Craniofacial-deafness-hand syndrome1 test
  • Cystic fibrosis1 test
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
  • Deafness-lymphedema-leukemia syndrome1 test
  • Deficiency of acetyl-CoA acetyltransferase1 test
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of galactokinase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase1 test
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Deficiency of steroid 17-alpha-monooxygenase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Developmental and epileptic encephalopathy, 361 test
  • Developmental and epileptic encephalopathy, 521 test
  • Developmental delay and seizures with or without movement abnormalities1 test
  • Diabetes mellitus1 test
  • DICER1-related tumor predisposition1 test
  • Dilated cardiomyopathy 1E2 tests
  • Dilated cardiomyopathy 1GG2 tests
  • Dilated cardiomyopathy 1L1 test
  • Distal myopathy with anterior tibial onset1 test
  • Distal myopathy, Tateyama type1 test
  • DK1-congenital disorder of glycosylation1 test
  • DPAGT1-congenital disorder of glycosylation1 test
  • DPM3-congenital disorder of glycosylation1 test
  • Drash syndrome2 tests
  • Duchenne muscular dystrophy1 test
  • Dyskeratosis congenita, autosomal dominant 11 test
  • Dystonia 91 test
  • Edema1 test
  • Elevated circulating creatine kinase concentration1 test
  • Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency1 test
  • Encephalopathy due to GLUT1 deficiency1 test
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
  • Endometrial carcinoma1 test
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Ethylmalonic encephalopathy1 test
  • Exercise intolerance, riboflavin-responsive1 test
  • Fabry disease1 test
  • Facial dysmorphism-immunodeficiency-livedo-short stature syndrome1 test
  • Familial acute necrotizing encephalopathy1 test
  • Familial adenomatous polyposis 11 test
  • Familial adenomatous polyposis 21 test
  • Familial adenomatous polyposis 31 test
  • Familial adenomatous polyposis 41 test
  • Familial atrial myxoma1 test
  • Familial cancer of breast1 test
  • Familial colorectal cancer1 test
  • Familial hyperaldosteronism type III1 test
  • Familial hypercholesterolemia1 test
  • Familial hyperinsulinism1 test
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial medullary thyroid carcinoma1 test
  • Familial meningioma1 test
  • Familial spontaneous pneumothorax1 test
  • Familial visceral amyloidosis, Ostertag type1 test
  • Fanconi anemia complementation group N1 test
  • Fanconi anemia complementation group O1 test
  • Fanconi renotubular syndrome 31 test
  • Fanconi-Bickel syndrome1 test
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
  • Finnish congenital nephrotic syndrome1 test
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 3, susceptibility to1 test
  • Focal segmental glomerulosclerosis 51 test
  • Focal segmental glomerulosclerosis 61 test
  • Focal segmental glomerulosclerosis 91 test
  • Frasier syndrome1 test
  • Fucosidosis1 test
  • Fumarase deficiency1 test
  • Gardner syndrome1 test
  • Gastrointestinal stromal tumor1 test
  • Gaucher disease due to saposin C deficiency1 test
  • Gaucher disease perinatal lethal1 test
  • Gaucher disease type I1 test
  • Gaucher disease type II1 test
  • Gaucher disease type III1 test
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Gillessen-Kaesbach-Nishimura syndrome1 test
  • Global developmental delay1 test
  • Glucose-6-phosphate transport defect1 test
  • Glutaric aciduria, type 11 test
  • Glycogen storage disease1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
  • Glycogen storage disease due to muscle beta-enolase deficiency1 test
  • Glycogen storage disease IXa11 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease type III1 test
  • Glycogen storage disease type X1 test
  • Glycogen storage disease XV1 test
  • Glycogen storage disease, type II1 test
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V1 test
  • Glycogen storage disease, type VI1 test
  • Glycogen storage disease, type VII1 test
  • GM1 gangliosidosis type 21 test
  • GM1 gangliosidosis type 31 test
  • GRACILE syndrome1 test
  • Hajdu-Cheney syndrome1 test
  • Hawkinsinuria1 test
  • Hemochromatosis type 11 test
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemochromatosis type 51 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
  • Hemorrhage, intracerebral, susceptibility to1 test
  • Hepatocellular carcinoma1 test
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11 test
  • Hereditary breast ovarian cancer syndrome1 test
  • Hereditary cancer-predisposing syndrome1 test
  • Hereditary disease3 tests
  • Hereditary leiomyomatosis and renal cell cancer2 tests
  • Hereditary non-spherocytic hemolytic anemia1 test
  • Hereditary spastic paraplegia 551 test
  • Hereditary spastic paraplegia 731 test
  • Hereditary spastic paraplegia 771 test
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
  • HNSHA due to aldolase A deficiency1 test
  • Holocarboxylase synthetase deficiency1 test
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • Hurler syndrome1 test
  • Hyperammonemia, type III1 test
  • Hyperapobetalipoproteinemia, susceptibility to1 test
  • Hypercholanemia, familial 11 test
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hypercholesterolemia, familial, 11 test
  • Hypercholesterolemia, familial, 41 test
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperinsulinemic hypoglycemia, familial, 41 test
  • Hyperinsulinism due to INSR deficiency1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hyperparathyroidism 11 test
  • Hyperparathyroidism 2 with jaw tumors1 test
  • Hypertrophic cardiomyopathy 11 test
  • Hypoalbuminemia1 test
  • Hypoalphalipoproteinemia, primary, 12 tests
  • Hypomyelinating leukodystrophy 21 test
  • Hypomyelination and Congenital Cataract1 test
  • Hypophosphatemic rickets, autosomal recessive, 11 test
  • Hypophosphatemic rickets, autosomal recessive, 21 test
  • Hypophosphatemic rickets, X-linked recessive1 test
  • Hypopigmentation-punctate palmoplantar keratoderma syndrome1 test
  • Hypospadias1 test
  • Hypotonia1 test
  • Hypotonia with lactic acidemia and hyperammonemia1 test
  • Idiopathic hypereosinophilic syndrome1 test
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis1 test
  • Inborn mitochondrial myopathy1 test
  • Infantile bilateral striatal necrosis1 test
  • Infantile GM1 gangliosidosis1 test
  • Infantile hypophosphatasia1 test
  • Infantile nephronophthisis1 test
  • Infantile onset spinocerebellar ataxia1 test
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Intellectual disability, autosomal dominant 151 test
  • Intellectual disability, autosomal dominant 161 test
  • Intellectual disability, autosomal recessive 71 test
  • Intermediate maple syrup urine disease type 21 test
  • Irinotecan response1 test
  • Isolated microcephaly1 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Jervell and Lange-Nielsen syndrome 11 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Joubert syndrome 61 test
  • Joubert syndrome with renal defect1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile polyposis syndrome1 test
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
  • Karyomegalic interstitial nephritis1 test
  • Krabbe disease due to saposin A deficiency1 test
  • LAMB2-related infantile-onset nephrotic syndrome1 test
  • Leigh syndrome3 tests
  • Leigh syndrome due to mitochondrial complex I deficiency1 test
  • Leigh syndrome due to mitochondrial complex IV deficiency1 test
  • Lesch-Nyhan syndrome1 test
  • Leukocyte adhesion deficiency type II1 test
  • Leukodystrophy1 test
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1 test
  • Lewy body dementia1 test
  • Li-Fraumeni syndrome1 test
  • Li-Fraumeni syndrome 21 test
  • Limb-girdle muscular dystrophy1 test
  • Lipoic acid synthetase deficiency1 test
  • Lipoyl transferase 1 deficiency1 test
  • Long QT syndrome1 test
  • Long QT syndrome 11 test
  • Long QT syndrome 101 test
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 131 test
  • Long QT syndrome 141 test
  • Long QT syndrome 151 test
  • Long QT syndrome 21 test
  • Long QT syndrome 32 tests
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long QT syndrome 91 test
  • Lymphangiomyomatosis1 test
  • Lymphedema1 test
  • Lynch syndrome2 tests
  • Lynch syndrome 11 test
  • Lynch syndrome 51 test
  • Lynch syndrome 81 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Malignant tumor of prostate1 test
  • Malignant tumor of urinary bladder1 test
  • Mandibular hypoplasia-deafness-progeroid syndrome1 test
  • Maple syrup urine disease1 test
  • Maple syrup urine disease, mild variant1 test
  • MASA syndrome1 test
  • Meacham syndrome1 test
  • Meckel syndrome, type 31 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Medulloblastoma1 test
  • Melanoma and neural system tumor syndrome1 test
  • Melanoma, cutaneous malignant, susceptibility to, 21 test
  • Melanoma, cutaneous malignant, susceptibility to, 31 test
  • Melanoma, cutaneous malignant, susceptibility to, 81 test
  • Melanoma-pancreatic cancer syndrome1 test
  • Menkes kinky-hair syndrome1 test
  • Mesothelioma, malignant1 test
  • Metachromatic leukodystrophy1 test
  • Methylcobalamin deficiency type cblE1 test
  • Methylcobalamin deficiency type cblG1 test
  • Methylmalonic acidemia1 test
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
  • Methylmalonic acidemia due to transcobalamin receptor defect1 test
  • Methylmalonic acidemia with homocystinuria, type cblJ1 test
  • Methylmalonic acidemia with homocystinuria, type cblX1 test
  • Methylmalonic aciduria and homocystinuria type cblD1 test
  • Methylmalonic aciduria and homocystinuria type cblF1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
  • Methylmalonic aciduria, cblA type1 test
  • Mevalonic aciduria1 test
  • MGAT2-congenital disorder of glycosylation1 test
  • Microcephaly, normal intelligence and immunodeficiency1 test
  • Micrognathia1 test
  • Mismatch repair cancer syndrome 11 test
  • Mitochondrial complex 1 deficiency, nuclear type 101 test
  • Mitochondrial complex 1 deficiency, nuclear type 151 test
  • Mitochondrial complex 1 deficiency, nuclear type 161 test
  • Mitochondrial complex 1 deficiency, nuclear type 21 test
  • Mitochondrial complex 1 deficiency, nuclear type 221 test
  • Mitochondrial complex 1 deficiency, nuclear type 231 test
  • Mitochondrial complex 1 deficiency, nuclear type 261 test
  • Mitochondrial complex 1 deficiency, nuclear type 31 test
  • Mitochondrial complex 1 deficiency, nuclear type 41 test
  • Mitochondrial complex 1 deficiency, nuclear type 51 test
  • Mitochondrial complex 1 deficiency, nuclear type 81 test
  • Mitochondrial complex 1 deficiency, nuclear type 91 test
  • Mitochondrial complex I deficiency1 test
  • Mitochondrial complex I deficiency, mitochondrial type1 test
  • Mitochondrial complex II deficiency, nuclear type 12 tests
  • Mitochondrial complex III deficiency1 test
  • Mitochondrial complex III deficiency nuclear type 11 test
  • Mitochondrial complex III deficiency nuclear type 21 test
  • Mitochondrial complex III deficiency nuclear type 31 test
  • Mitochondrial complex III deficiency nuclear type 41 test
  • Mitochondrial complex IV deficiency, nuclear type 11 test
  • Mitochondrial disorder due to a defect in mitochondrial protein synthesis1 test
  • Mitochondrial DNA depletion syndrome 11 test
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 4b1 test
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 8a1 test
  • Mitochondrial DNA depletion syndrome 91 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
  • Mitochondrial DNA depletion syndrome, myopathic form1 test
  • Mitochondrial encephalomyopathy1 test
  • Mitochondrial encephalopathy1 test
  • Mitochondrial myopathy with diabetes1 test
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy1 test
  • Mitochondrial myopathy, isolated1 test
  • Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1 test
  • Mitochondrial neurogastrointestinal encephalomyopathy1 test
  • Mitochondrial oxidative phosphorylation disorder1 test
  • Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA1 test
  • Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA1 test
  • Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies1 test
  • Mitochondrial trifunctional protein deficiency1 test
  • Miyoshi muscular dystrophy 11 test
  • MOGS-congenital disorder of glycosylation1 test
  • Monocytopenia with susceptibility to infections1 test
  • MPDU1-congenital disorder of glycosylation1 test
  • MPI-congenital disorder of glycosylation1 test
  • MTHFR THERMOLABILE POLYMORPHISM1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis type 71 test
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-II1 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-IV-A1 test
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Muir-TorrĂ© syndrome1 test
  • Multiple acyl-CoA dehydrogenase deficiency1 test
  • Multiple endocrine neoplasia type 2A1 test
  • Multiple endocrine neoplasia type 2B1 test
  • Multiple endocrine neoplasia type 41 test
  • Multiple endocrine neoplasia, type 11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51 test
  • Muscular dystrophy-dystroglycanopathy type B51 test
  • Myelodysplastic syndrome1 test
  • Myopathy with abnormal lipid metabolism1 test
  • Myopathy with giant abnormal mitochondria1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia1 test
  • Myopia 61 test
  • Nail-patella syndrome1 test
  • NARP syndrome1 test
  • Neonatal intrahepatic cholestasis due to citrin deficiency1 test
  • Nephroblastoma1 test
  • Nephronophthisis 11 test
  • Nephronophthisis 111 test
  • Nephronophthisis 31 test
  • Nephronophthisis 41 test
  • Nephrotic syndrome1 test
  • Nephrotic syndrome, type 111 test
  • Nephrotic syndrome, type 121 test
  • Nephrotic syndrome, type 131 test
  • Nephrotic syndrome, type 21 test
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 42 tests
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 91 test
  • Neuroblastoma, susceptibility to, 31 test
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1 test
  • Neurofibromatosis, familial spinal1 test
  • Neurofibromatosis, type 21 test
  • Neurofibromatosis-Noonan syndrome1 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C11 test
  • Niemann-Pick disease, type C21 test
  • Non-ketotic hyperglycinemia1 test
  • Nonpapillary renal cell carcinoma1 test
  • Nonsyndromic genetic hearing loss1 test
  • Obesity1 test
  • Odontohypophosphatasia1 test
  • Oligodontia-cancer predisposition syndrome1 test
  • Ophthalmoplegic neuromuscular disorder with abnormal mitochondria1 test
  • Optic atrophy 31 test
  • Ornithine carbamoyltransferase deficiency1 test
  • Osteofibrous dysplasia1 test
  • Papillary renal cell carcinoma type 11 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paragangliomas 52 tests
  • Parathyroid carcinoma1 test
  • Parkinson disease, late-onset1 test
  • Patterned macular dystrophy 21 test
  • Pendred syndrome1 test
  • Perlman syndrome1 test
  • Peroxisome biogenesis disorder1 test
  • Peroxisome biogenesis disorder 11A (Zellweger)1 test
  • Peroxisome biogenesis disorder 11B1 test
  • Peroxisome biogenesis disorder 12A (Zellweger)1 test
  • Peroxisome biogenesis disorder 13A (Zellweger)1 test
  • Peroxisome biogenesis disorder 14B1 test
  • Peroxisome biogenesis disorder 1B1 test
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 6A (Zellweger)1 test
  • Peroxisome biogenesis disorder 6B1 test
  • Peroxisome biogenesis disorder 8A (Zellweger)1 test
  • Peroxisome biogenesis disorder 9B1 test
  • Peutz-Jeghers syndrome1 test
  • PGM1-congenital disorder of glycosylation1 test
  • Phenylketonuria1 test
  • Pheochromocytoma1 test
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
  • Piebaldism2 tests
  • Pierson syndrome1 test
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pili torti-deafness syndrome1 test
  • Pituitary dependent hypercortisolism1 test
  • Plasminogen deficiency, type I1 test
  • Platelet-type bleeding disorder 101 test
  • PMM2-congenital disorder of glycosylation1 test
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease 3 with or without polycystic liver disease1 test
  • Polycystic kidney disease, adult type1 test
  • Polyglucosan body myopathy type 21 test
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Primary dilated cardiomyopathy1 test
  • Primary hyperoxaluria type 32 tests
  • Primary hyperoxaluria, type I2 tests
  • Primary hyperoxaluria, type II2 tests
  • Progressive encephalopathy with leukodystrophy due to DECR deficiency1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41 test
  • Progressive familial heart block type IB1 test
  • Progressive familial heart block, type 1A2 tests
  • Progressive familial intrahepatic cholestasis type 11 test
  • Progressive familial intrahepatic cholestasis type 21 test
  • Progressive sclerosing poliodystrophy1 test
  • Prolactin-producing pituitary gland adenoma1 test
  • Propionic acidemia1 test
  • Prostate cancer, hereditary, 91 test
  • Proteinuria1 test
  • PTEN hamartoma tumor syndrome2 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 21 test
  • Pure mitochondrial myopathy1 test
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyruvate carboxylase deficiency1 test
  • Pyruvate dehydrogenase complex deficiency1 test
  • Pyruvate dehydrogenase E1-alpha deficiency1 test
  • Pyruvate dehydrogenase E1-beta deficiency1 test
  • Pyruvate dehydrogenase E3 deficiency1 test
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate dehydrogenase phosphatase deficiency1 test
  • Pyruvate kinase deficiency of red cells1 test
  • Qualitative or quantitative defects of dysferlin1 test
  • Rafiq syndrome1 test
  • Rapadilino syndrome1 test
  • Renal carnitine transport defect1 test
  • Renal coloboma syndrome1 test
  • Renal cysts and diabetes syndrome1 test
  • Renal dysplasia, cystic, susceptibility to1 test
  • Renal hypodysplasia/aplasia 11 test
  • Retinitis pigmentosa 591 test
  • Retinitis pigmentosa 611 test
  • Retinitis pigmentosa 731 test
  • Retinitis pigmentosa-deafness syndrome1 test
  • Retinoblastoma1 test
  • RFT1-congenital disorder of glycosylation1 test
  • Rhabdoid tumor predisposition syndrome 11 test
  • Rhabdoid tumor predisposition syndrome 21 test
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Rippling muscle disease 21 test
  • Rothmund-Thomson syndrome1 test
  • Sandhoff disease1 test
  • Schwannomatosis 11 test
  • Screening for genetic disease carrier status1 test
  • Seizure1 test
  • Senior-Loken syndrome 11 test
  • Sensorineural hearing loss disorder1 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
  • Short QT syndrome1 test
  • Short QT syndrome type 11 test
  • Short QT syndrome type 21 test
  • Short QT syndrome type 31 test
  • Short stature due to partial GHR deficiency1 test
  • Sick sinus syndrome 12 tests
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Sickle cell disease and related diseases1 test
  • Simpson-Golabi-Behmel syndrome type 11 test
  • SLC35A1-congenital disorder of glycosylation1 test
  • SLC35A2-congenital disorder of glycosylation1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Somatotroph adenoma1 test
  • Spinal muscular atrophy1 test
  • Spinocerebellar ataxia type 19/221 test
  • Spongy degeneration of central nervous system1 test
  • SRD5A3-congenital disorder of glycosylation1 test
  • Stage 5 chronic kidney disease1 test
  • Stickler syndrome1 test
  • STT3A-congenital disorder of glycosylation1 test
  • STT3B-congenital disorder of glycosylation1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • SUDDEN INFANT DEATH SYNDROME2 tests
  • Symmetrical dyschromatosis of extremities1 test
  • Tangier disease1 test
  • Tay-Sachs disease1 test
  • Thin glomerular basement membrane1 test
  • Thrombomodulin-related bleeding disorder1 test
  • Thrombophilia due to thrombin defect1 test
  • Thyroid cancer, nonmedullary, 21 test
  • Tietz syndrome1 test
  • Timothy syndrome1 test
  • TMEM165-congenital disorder of glycosylation1 test
  • Triglyceride storage disease with ichthyosis1 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Tubulointerstitial kidney disease, autosomal dominant, 21 test
  • Tumor predisposition syndrome 31 test
  • Type 2 diabetes mellitus1 test
  • Type A2 brachydactyly1 test
  • Type I transferrin isoform profile1 test
  • Tyrosinemia type I1 test
  • Tyrosinemia type II1 test
  • Tyrosinemia type III1 test
  • Usher syndrome type 2A1 test
  • Usher syndrome type 31 test
  • Ventricular fibrillation, paroxysmal familial, type 12 tests
  • Very long chain acyl-CoA dehydrogenase deficiency1 test
  • Von Hippel-Lindau syndrome1 test
  • Waardenburg syndrome2 tests
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 2E1 test
  • Waardenburg syndrome type 31 test
  • Werner syndrome1 test
  • Wilms tumor 11 test
  • Wilson disease1 test
  • X-linked Alport syndrome1 test
  • X-linked complicated corpus callosum dysgenesis1 test
  • X-linked hydrocephalus syndrome1 test
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
  • Zellweger spectrum disorders1 test

List of services

  • Maternal cell contamination study (MCC): Order Code: DN-23a, comments
  • Whole Genome Sequencing: Order Code: DT-02, comments
  • Whole Exome Sequencing: Order Code: DT-04, comments
  • Carrier testing: Order Code: DT-11, comments
  • Custom microarray analysis: Order Code: DT-12, comments
  • Custom Sequence Analysis: Order Code: DT-19, comments
  • Confirmation of research findings: Order Code: DT-21, comments
  • Prenatal testing: Order Code: DT-22, comments
  • Genetic counseling: Order Code: DT-24, comments
  • Result interpretation: Order Code: DT-25, comments

List of certifications/licenses

Certifications

  • KPME, Number: BLU03135YNCD, Expiration date: 2025-02-12
  • Pollution Control Board, Number: KSPCB/RO-BCW/HCE/2019-20/718, Expiration date: 2023-06-30
  • Trade License, Number: EA09018645204735369, Expiration date: 2023-03-31

Participation in external programs

Data exchange Programs

  • Mutation-specific Databases

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.