Institute of Medical Genetics and Genomics

Personnel

Director: Ratna Puri, MD, Medical Director
Phone: +11 42251996
Fax: +11 25861002
Email: ratnadpuri@yahoo.com
Director: Renu Saxena, PhD, Lab Director
Phone: +91 1142252139
Fax: +91 1125861002
Email: renu2006@gmail.com

Conditions and tests

123 conditions/phenotypes with 118 tests
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Aarskog syndrome1 test
Achondroplasia2 tests
Acrocephalosyndactyly type I1 test
Acute intermittent porphyria2 tests
Adrenoleukodystrophy2 tests
Alkaptonuria1 test
alpha Thalassemia1 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 Thalassemia1 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
Fragile X syndrome1 test
FRAXE1 test
Friedreich ataxia 11 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
GM1 gangliosidosis1 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
Maple syrup urine disease1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
MERRF syndrome2 tests
MERRF/MELAS overlap syndrome1 test
Metachromatic leukodystrophy1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Methylmalonic aciduria, cblA type1 test
Methylmalonic aciduria, cblB type1 test
Mitochondrial complex IV deficiency, nuclear type 11 test
Mitochondrial DNA Deletion Syndromes1 test
Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
MTHFR THERMOLABILE POLYMORPHISM1 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-beta-thalassemia2 tests
Sickle cell-hemoglobin C disease1 test
Sickle cell-hemoglobin D disease2 tests
Sickle cell-Hemoglobin O Arab disease1 test
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

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Prenatal testing
Custom Sequence Analysis
DNA Banking
Genetic counseling
Maternal cell contamination study (MCC)
Mutation Confirmation
Uniparental Disomy (UPD) Testing

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.