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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: 253

Gene

GeneSubmissionsLast Updated
ABCA31Oct 23, 2023
AGO21Jun 21, 2023
AKR1D11Jun 21, 2023
ALDH7A12Feb 15, 2022
AVPR21Oct 20, 2023
BCKDHA8Jul 15, 2015
BCKDHB10Jul 15, 2015
BTK6May 13, 2022
CACNA1E1Oct 23, 2023
CACNA1G1Jul 10, 2023
CANT12Jan 30, 2022
CEP2901Oct 19, 2023
CFTR3Nov 6, 2023
CFTR-AS11Nov 6, 2023
COL1A18Feb 10, 2022
COL1A25Jul 10, 2023
COL1A2-AS11Jul 10, 2023
COL2A14Jul 3, 2022
CPLANE11Jul 10, 2023
CPS11Oct 19, 2023
CREBBP1Jun 21, 2023
CRLF11Jun 22, 2023
CSNK2A11Jun 23, 2023
CYP21A220Mar 11, 2023
DBT2Jul 15, 2015
DGUOK1Oct 19, 2023
DPAGT14Jul 4, 2023
DYRK1A1Jul 10, 2023
DYSF1Jul 7, 2023
ELANE1Oct 23, 2023
EVC21Jan 30, 2022
F111Jun 23, 2023
FBN12Jul 10, 2023
FBP17Jun 15, 2017
FBXL41Feb 15, 2022
FGF121Oct 19, 2023
FGFR31Jan 30, 2022
GAA23Sep 18, 2023
GAREM21Oct 16, 2023
GPR1431Jun 24, 2023
HADHA1Oct 16, 2023
HECW21Jun 28, 2023
HGD2Jun 24, 2023
HMGCS21Feb 20, 2022
IFT1401Nov 16, 2021
IFT431Jan 30, 2022
IFT812Jan 30, 2022
IMMT1Feb 24, 2022
KCNH21Aug 4, 2015
KCNJ12Oct 28, 2023
KCNQ117Oct 16, 2015
KCNQ1OT11Aug 4, 2015
KCNQ21Oct 20, 2023
KMT2D1Jun 23, 2023
LDLR1Sep 21, 2017
LHX31Feb 15, 2022
LOC1053710461Nov 16, 2021
LOC10678080020Mar 11, 2023
LOC1116744751Oct 28, 2023
LOC1268605441Jun 21, 2023
LOC1268613603Jul 4, 2023
LOC1299340961Oct 19, 2023
LOC1300022031May 2, 2022
LSS2Jun 28, 2023
MMAA2Apr 12, 2016
MMAB3Apr 12, 2016
MMACHC1Apr 12, 2016
MMUT6Apr 12, 2016
MOCS21Oct 23, 2023
MVK1Apr 12, 2016
MYH61Jun 24, 2023
NANS1May 2, 2022
NBEA1Jul 10, 2023
NEB1Jun 28, 2023
NEK11Jan 30, 2022
NPC12Jun 21, 2023
NR0B11Oct 13, 2020
OTC1Oct 19, 2023
PCCA22Sep 7, 2016
PCCB6Nov 17, 2015
PDHX2Oct 23, 2023
PEX71Jan 30, 2022
PIGB1Oct 23, 2023
PIGBOS11Oct 23, 2023
PNP1Jun 28, 2023
POLG2Oct 17, 2022
POLGARF2Oct 17, 2022
PRF11Oct 23, 2023
PROM12Jun 22, 2023
PTPN111Oct 27, 2023
RANBP21Jun 24, 2023
SCN1A2Oct 23, 2023
SCN2A1Oct 28, 2023
SCN5A2Aug 4, 2015
SH3TC21Jun 23, 2023
SLC25A121Feb 15, 2022
SLC26A25Nov 25, 2021
SRD5A31Jun 24, 2023
STXBP11Feb 15, 2022
TMEM531Jul 10, 2023
TMEM671Jun 23, 2023
TRAPPC2L1Jun 28, 2023
TRIM141May 2, 2022
TRIP112Jan 30, 2022
TRRAP1Jun 21, 2023
TUBGCP62Jan 3, 2024
UGP21Oct 19, 2023
WDR192Jun 21, 2023
WNT7A1Jan 30, 2022
WWOX1Oct 19, 2023

Condition

NameSubmissionsLast Updated
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Feb 20, 2022
Achondrogenesis type II4Jul 3, 2022
Achondrogenesis, type IA2Jan 30, 2022
Achondrogenesis, type IB2Nov 25, 2021
Alkaptonuria2Jun 24, 2023
Atelosteogenesis type II2Nov 17, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2B1Jul 7, 2023
Bartter disease type 22Oct 28, 2023
Charcot-Marie-Tooth disease type 4C1Jun 23, 2023
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency20Mar 11, 2023
Cobalamin C disease1Apr 12, 2016
Cone-rod dystrophy 123Jun 22, 2023
Congenital adrenal hypoplasia, X-linked1Oct 13, 2020
Congenital bile acid synthesis defect 21Jun 21, 2023
Congenital hyperammonemia, type I1Oct 19, 2023
Congenital myasthenic syndrome 132Jun 24, 2023
Cranioectodermal dysplasia 42Jun 21, 2023
Craniotubular dysplasia, Ikegawa type1Jul 10, 2023
Cystic fibrosis3Nov 6, 2023
DPAGT1-congenital disorder of glycosylation2Jul 4, 2023
DYRK1A-related intellectual disability syndrome1Jul 10, 2023
Desbuquois dysplasia 12Jan 30, 2022
Developmental and epileptic encephalopathy 6B1Oct 23, 2023
Developmental and epileptic encephalopathy, 111Oct 28, 2023
Developmental and epileptic encephalopathy, 281Oct 19, 2023
Developmental and epileptic encephalopathy, 391Feb 15, 2022
Developmental and epileptic encephalopathy, 41Feb 15, 2022
Developmental and epileptic encephalopathy, 471Oct 19, 2023
Developmental and epileptic encephalopathy, 691Oct 23, 2023
Developmental and epileptic encephalopathy, 71Oct 20, 2023
Developmental and epileptic encephalopathy, 801Oct 23, 2023
Developmental and epileptic encephalopathy, 831Oct 19, 2023
Developmental delay with or without dysmorphic facies and autism1Jun 21, 2023
Diastrophic dysplasia1Nov 25, 2021
Ellis-van Creveld syndrome1Jan 30, 2022
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis1Jun 28, 2023
Familial acute necrotizing encephalopathy1Jun 24, 2023
Familial hemophagocytic lymphohistiocytosis 21Oct 23, 2023
Fructose-biphosphatase deficiency7Jun 15, 2017
Glycogen storage disease, type II23Sep 18, 2023
Hereditary factor XI deficiency disease1Jun 23, 2023
Hypercholesterolemia, familial, 11Sep 21, 2017
Hypertrophic cardiomyopathy 141Jun 24, 2023
Hypotrichosis 142Jun 28, 2023
Interstitial lung disease due to ABCA3 deficiency1Oct 23, 2023
Joubert syndrome 51Oct 19, 2023
Kabuki syndrome 11Jun 23, 2023
Lessel-Kreienkamp syndrome1Jun 21, 2023
Long QT syndrome 117Oct 16, 2015
Long QT syndrome 21Aug 4, 2015
Long QT syndrome 32Aug 4, 2015
Maple syrup urine disease20Jul 15, 2015
Marfan syndrome2Jul 10, 2023
Meckel syndrome, type 31Jun 23, 2023
Menke-Hennekam syndrome 11Jun 21, 2023
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency6Apr 12, 2016
Methylmalonic aciduria, cblA type2Apr 12, 2016
Methylmalonic aciduria, cblB type3Apr 12, 2016
Microcephaly and chorioretinopathy 12Jan 3, 2024
Mitochondrial DNA depletion syndrome 131Feb 15, 2022
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1Oct 19, 2023
Mitochondrial trifunctional protein deficiency1Oct 16, 2023
Nemaline myopathy 21Jun 28, 2023
Nephrogenic syndrome of inappropriate antidiuresis1Oct 20, 2023
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Jun 28, 2023
Neurodevelopmental disorder with or without early-onset generalized epilepsy1Jul 10, 2023
Neutropenia, severe congenital, 1, autosomal dominant1Oct 23, 2023
Niemann-Pick disease, type C12Jun 21, 2023
Non-acquired combined pituitary hormone deficiency with spine abnormalities1Feb 15, 2022
Noonan syndrome 11Oct 27, 2023
Nystagmus 6, congenital, X-linked1Jun 24, 2023
Okur-Chung neurodevelopmental syndrome1Jun 23, 2023
Ornithine carbamoyltransferase deficiency1Oct 19, 2023
Orofaciodigital syndrome type 61Jul 10, 2023
Osteogenesis imperfecta6Feb 10, 2022
Osteogenesis imperfecta with normal sclerae, dominant form1Jul 10, 2023
Osteogenesis imperfecta, perinatal lethal6Feb 11, 2022
Progressive sclerosing poliodystrophy2Oct 17, 2022
Propionic acidemia28Sep 7, 2016
Purine-nucleoside phosphorylase deficiency1Jun 28, 2023
Pyridoxine-dependent epilepsy2Feb 15, 2022
Pyruvate dehydrogenase E3-binding protein deficiency2Oct 23, 2023
Rhizomelic chondrodysplasia punctata type 11Jan 30, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations1Jun 21, 2023
SRD5A3-congenital disorder of glycosylation1Jun 24, 2023
Saldino-Mainzer syndrome1Nov 16, 2021
Schinzel phocomelia syndrome1Jan 30, 2022
See cases1Feb 24, 2022
Severe myoclonic epilepsy in infancy1Oct 23, 2023
Short-rib thoracic dysplasia 18 with polydactyly1Jan 30, 2022
Short-rib thoracic dysplasia 19 with or without polydactyly2Jan 30, 2022
Short-rib thoracic dysplasia 6 with or without polydactyly1Jan 30, 2022
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Jul 10, 2023
Spondyloepimetaphyseal dysplasia, Genevieve type1May 2, 2022
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1Oct 23, 2023
Thanatophoric dysplasia type 11Jan 30, 2022
X-linked agammaglobulinemia6May 13, 2022

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 41 test
Androgen resistance syndrome1 test
Angelman syndrome1 test
Ataxia-telangiectasia syndrome1 test
Autosomal dominant Parkinson disease 81 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Azorean disease1 test
Becker muscular dystrophy1 test
Beta thalassemia intermedia1 test
Beta-thalassemia major1 test
Biotinidase deficiency1 test
Charcot-Marie-Tooth disease X-linked dominant 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
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Dentatorubral-pallidoluysian atrophy1 test
Diastrophic dysplasia1 test
Dilated cardiomyopathy 3B1 test
Duchenne muscular dystrophy1 test
Dystonia 51 test
Early-onset generalized limb-onset dystonia1 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
LAMA2-related muscular dystrophy1 test
Lamellar ichthyosis1 test
Lesch-Nyhan syndrome1 test
Lethal tight skin contracture syndrome1 test
Lowe syndrome1 test
MERRF syndrome2 tests
MERRF/MELAS overlap syndrome1 test
MTHFR THERMOLABILE POLYMORPHISM1 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
Methylmalonic aciduria, cblA type1 test
Methylmalonic aciduria, cblB type1 test
Mitochondrial DNA Deletion Syndromes1 test
Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
Mitochondrial complex IV deficiency, nuclear type 11 test
Mucopolysaccharidosis, MPS-II1 test
Muenke syndrome1 test
Neurofibromatosis, type 11 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 21 test
Neuronal ceroid lipofuscinosis 31 test
Obesity due to congenital leptin deficiency1 test
Oculocutaneous albinism type 31 test
Pigmentary pallidal degeneration1 test
Prader-Willi syndrome1 test
Primary hyperoxaluria, type I1 test
Propionic acidemia1 test
Qualitative or quantitative defects of dystrophin1 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
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
Thalassemia minor1 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to thrombin defect1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tyrosinase-positive oculocutaneous albinism2 tests
Tyrosinemia type I2 tests
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