Institute of Medical Genetics and Genomics (Sir Ganga Ram Hospital)

General information

Institute of Medical Genetics and Genomics
Sir Ganga Ram Hospital
Rajinder Nagar
New Delhi
Delhi
India - 110060

Organization ID: 217613

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 97

Gene

GeneSubmissionsLast Updated
BCKDHA8Jul 15, 2015
BCKDHB10Jul 15, 2015
DBT2Jul 15, 2015
FBP17Jun 15, 2017
GAA8Oct 27, 2020
KCNH21Aug 4, 2015
KCNQ117Oct 16, 2015
KCNQ1OT11Aug 4, 2015
LDLR1Sep 21, 2017
MMAA2Apr 12, 2016
MMAB3Apr 12, 2016
MMACHC1Apr 12, 2016
MMUT6Apr 12, 2016
MVK1Apr 12, 2016
NR0B11Oct 13, 2020
PCCA22Sep 7, 2016
PCCB6Nov 17, 2015
SCN5A2Aug 4, 2015

Testing in GTR

Disease nameNumber of tests
Aarskog syndrome1 test
Achondroplasia2 tests
Acrocephalosyndactyly type I1 test
Acute intermittent porphyria2 tests
Adrenoleukodystrophy2 tests
Alkaptonuria1 test
Alpha-1-antitrypsin deficiency1 test
Alzheimer disease, type 41 test
Androgen resistance syndrome1 test
Angelman syndrome1 test
Ataxia-telangiectasia syndrome1 test
Azorean disease1 test
Becker muscular dystrophy1 test
Beta thalassemia intermedia1 test
Beta thalassemia major1 test
Beta thalassemia minor1 test
Biotinidase deficiency1 test
Ceroid lipofuscinosis neuronal 21 test
Charcot-Marie-Tooth Neuropathy X Type 11 test
Citrullinemia type I1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Congenital adrenal hypoplasia, X-linked1 test
Crigler-Najjar syndrome1 test
Cystic fibrosis1 test
Deafness, autosomal recessive 1A1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Dentatorubral-pallidoluysian atrophy1 test
Diastrophic dysplasia1 test
Dilated cardiomyopathy 3B1 test
Duchenne muscular dystrophy1 test
Dystonia 11 test
Dystonia 51 test
Dystrophinopathies1 test
FRAXE1 test
Fragile X syndrome1 test
Friedreich ataxia 11 test
GM1 gangliosidosis1 test
Galactosylceramide beta-galactosidase deficiency1 test
Gaucher disease1 test
Gilbert syndrome1 test
Glaucoma 3, primary infantile, b1 test
Glutaric aciduria, type 11 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease type III1 test
Glycogen storage disease, type V1 test
Griscelli syndrome type 21 test
Hb SS disease3 tests
Hemochromatosis type 11 test
Hemoglobinopathy1 test
Hereditary factor IX deficiency disease1 test
Hereditary factor VIII deficiency disease1 test
Huntington disease1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Incontinentia pigmenti syndrome1 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke2 tests
L1 syndrome1 test
Lamellar ichthyosis1 test
Laminin alpha 2-related dystrophy1 test
Leptin deficiency or dysfunction1 test
Lesch-Nyhan syndrome1 test
Lethal tight skin contracture syndrome1 test
Lowe syndrome1 test
MERRF syndrome2 tests
MERRF/MELAS overlap syndrome1 test
MTHFR deficiency, thermolabile type1 test
Maple syrup urine disease1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
Metachromatic leukodystrophy1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Mitochondrial DNA Deletion Syndromes1 test
Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
Mitochondrial complex IV deficiency1 test
Mucopolysaccharidosis, MPS-II1 test
Muenke syndrome1 test
Neurofibromatosis, type 11 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 31 test
Oculocutaneous albinism type 31 test
Parkinson disease 8, autosomal dominant1 test
Pigmentary pallidal degeneration1 test
Prader-Willi syndrome1 test
Primary hyperoxaluria, type I1 test
Propionic acidemia1 test
Respiratory distress syndrome in premature infants1 test
Retinoblastoma1 test
Rett syndrome1 test
Saethre-Chotzen syndrome1 test
Sickle cell-Hemoglobin O Arab disease1 test
Sickle cell-beta-thalassemia2 tests
Sickle cell-hemoglobin C disease1 test
Sickle cell-hemoglobin D disease2 tests
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Spinal muscular atrophy1 test
Spinal muscular atrophy, distal, autosomal recessive, 11 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 61 test
Spondyloarthropathy, susceptibility to1 test
Spondyloepiphyseal dysplasia tarda1 test
Spongy degeneration of central nervous system1 test
Steinert myotonic dystrophy syndrome1 test
Tay-Sachs disease1 test
Thalassemia intermedia1 test
Thrombophilia due to factor V Leiden1 test
Thrombophilia due to thrombin defect1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tyrosinase-positive oculocutaneous albinism2 tests
Tyrosinemia type I2 tests
Vitamin B12-responsive methylmalonic acidemia type cblA1 test
Vitamin B12-responsive methylmalonic acidemia type cblB1 test
Waardenburg syndrome type 11 test
Waardenburg syndrome type 4B1 test
Wilson disease1 test
Wiskott-Aldrich syndrome1 test
X-linked agammaglobulinemia1 test
X-linked ichthyosis with steryl-sulfatase deficiency2 tests
Y chromosome-related disorders1 test
alpha Thalassemia1 test
beta Thalassemia1 test
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