Dhiti Omics Technologies Private Ltd

Personnel

Director: Shalu Verma Kumar, PhD, Lab Director
Phone: +91-080-40916348
Email: [email protected]
Sudha Rao, PhD, Founder and Director
Phone: +919243454126
Email: [email protected]
Anand Damodaran, MD, Consultant Molecular Diagnostics
Phone: +91-080-40916348
Email: [email protected]
Kumar Gautam Singh, MTech, Informatics staff
Phone: +91-080-40916348
Email: [email protected]

Conditions and tests

678 conditions/phenotypes with 18 tests
Enter text to narrow down the list

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 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
MELAS 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-Torré 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
MCC testing
Whole Genome Sequencing: Order Code: DT-02, comments
WGS 30x, NGS, with comprehensive report
Whole Exome Sequencing: Order Code: DT-04, comments
WES 100x with comprehensive report
Carrier testing: Order Code: DT-11, comments
Targeted mutation testing in family, when the mutation has already been established in proband
Custom microarray analysis: Order Code: DT-12, comments
CGH + SNP Microarray
Custom Sequence Analysis: Order Code: DT-19, comments
Custom Multigene sequencing, on demand
Confirmation of research findings: Order Code: DT-21, comments
As per client's requirements
Prenatal testing: Order Code: DT-22, comments
A sample for which the proband/parental mutation testing has already done by Dhiti.
Genetic counseling: Order Code: DT-24, comments
Genetic Counselling by trained GC
Result interpretation: Order Code: DT-25, comments
Clinical/research report for raw data sequenced at external laboratories

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.