GTR Home > Laboratories > Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics

GTR Lab ID: 506255, Last updated:2018-07-04


  • Director: Frenny Sheth, PhD, Lab Director
    Phone: +91-79-26921414 (India)
    Fax: +91-79-26921415 (India)
    Contact note: It would be preferable to contact Dr. Sheth over telephone from Monday to Saturday between 10:00 AM to 6:30 PM (Indian Standard Time). Contact through e-mail can be done round the clock.
  • Director: Jayesh Sheth, PhD, Scientific Director
    Phone: +91-79-26921414 (India)
    Fax: +91-79-26921415 (India)
    Contact note: It would be preferable to contact Dr. Sheth over telephone from Monday to Saturday between 10:00 AM to 6:30 PM (Indian Standard Time). Contact through e-mail can be done round the clock.
  • Riddhi Bhavsar, MSc, Staff
    Phone: +91-79-26921414 (India)
    Fax: +91-79-26921415 (India)
    Contact note: It would be preferable to contact Ms. Bhavsar over telephone from Monday to Saturday between 9:00 AM to 6:30 PM (Indian Standard Time). Contact through e-mail can be done round the clock.
  • Krati Shah, MD, Staff
    Phone: +91-79-26921414 (India)
    Fax: +91-79-26921415 (India)
  • Harsh Sheth, PhD, BS, Lab Associate Director
    Phone: +91-79-26921414

Conditions and tests

  • 15q13.3 microdeletion syndrome1 test
  • 16p11.2 deletion syndrome1 test
  • 1q21.1 recurrent microdeletion1 test
  • 22q11.2 duplication syndrome1 test
  • 2p15-16.1 microdeletion syndrome1 test
  • 3q29 microdeletion syndrome1 test
  • 4p partial monosomy syndrome1 test
  • Achondroplasia1 test
  • Acute lymphoid leukemia1 test
  • Acute myeloid leukemia1 test
  • Alexander Disease1 test
  • Alpha mannosidosis type 21 test
  • Ambiguous genitalia1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Angelman syndrome2 tests
  • Anomaly of sex chromosome1 test
  • Autism 151 test
  • Autism, susceptibility to, X-linked 41 test
  • beta Thalassemia2 tests
  • Ceroid lipofuscinosis neuronal 13 tests
  • Ceroid lipofuscinosis neuronal 23 tests
  • Charcot-Marie-Tooth disease, type IA1 test
  • Chromosome 1, deletion q21 q251 test
  • Chromosome 1, duplication 1p21 p321 test
  • Chromosome 10q22.3-q23.2 deletion syndrome1 test
  • Chromosome 10q26 deletion syndrome1 test
  • Chromosome 11, deletion 11p1 test
  • Chromosome 11p, partial deletion1 test
  • Chromosome 11q partial deletion1 test
  • Chromosome 12p deletion1 test
  • Chromosome 14 deletion1 test
  • Chromosome 14, deletion 14q, partial duplication 14p1 test
  • Chromosome 14q, partial deletions1 test
  • Chromosome 14q, proximal duplication1 test
  • Chromosome 14q, terminal duplication1 test
  • Chromosome 14q11-q22 deletion syndrome1 test
  • Chromosome 15q, partial deletion1 test
  • Chromosome 15q11-q13 duplication syndrome1 test
  • Chromosome 15q11.2 deletion syndrome1 test
  • Chromosome 15q11.2 duplication syndrome1 test
  • Chromosome 15q25 deletion syndrome1 test
  • Chromosome 16, trisomy 16p1 test
  • Chromosome 16p11.2 deletion syndrome, 220 kb1 test
  • Chromosome 16p12.1 deletion syndrome, 520-kb1 test
  • Chromosome 16p13.3 deletion syndrome, proximal1 test
  • Chromosome 16q22 deletion syndrome1 test
  • Chromosome 17, deletion1 test
  • Chromosome 17, deletion 17q23 q241 test
  • Chromosome 17, duplication1 test
  • Chromosome 17p13.1 deletion syndrome1 test
  • Chromosome 17p13.3, centromeric, duplication syndrome1 test
  • Chromosome 17q11.2 deletion syndrome, 1.4 MB1 test
  • Chromosome 17q12 deletion syndrome1 test
  • Chromosome 17q12 duplication syndrome1 test
  • Chromosome 17q21.31 duplication syndrome1 test
  • Chromosome 17q23.1-q23.2 deletion syndrome1 test
  • Chromosome 17q23.1-q23.2 duplication syndrome1 test
  • Chromosome 19p13.13 deletion syndrome1 test
  • Chromosome 1q21.1 duplication syndrome1 test
  • Chromosome 2, duplication(2)(p13)(p21)1 test
  • Chromosome 20, deletion 20p1 test
  • Chromosome 20, duplication 20p1 test
  • Chromosome 22q deletion1 test
  • Chromosome 22q11.2 deletion syndrome, distal1 test
  • Chromosome 22q13 duplication syndrome1 test
  • Chromosome 2p12-p11.2 deletion syndrome1 test
  • Chromosome 2q23.1 deletion syndrome1 test
  • Chromosome 2q23.1 duplication syndrome1 test
  • Chromosome 2q31.1 duplication syndrome1 test
  • Chromosome 2q31.2 deletion syndrome1 test
  • Chromosome 2q32-q33 deletion syndrome1 test
  • Chromosome 2q37 deletion syndrome1 test
  • Chromosome 3 duplication syndrome1 test
  • Chromosome 3pter-p25 deletion syndrome1 test
  • Chromosome 3q13.31 deletion syndrome1 test
  • Chromosome 3q29 microduplication syndrome1 test
  • Chromosome 4 short arm deletion1 test
  • Chromosome 5p13 duplication syndrome1 test
  • Chromosome 5q12 deletion syndrome1 test
  • Chromosome 5q14.3 deletion syndrome1 test
  • Chromosome 6, deletion 6q13 q151 test
  • Chromosome 6pter-p24 deletion syndrome1 test
  • Chromosome 6q11-q14 deletion syndrome1 test
  • Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb1 test
  • Chromosome 8q21.11 deletion syndrome1 test
  • Chromosome 9, deletion 9q21.33q22.321 test
  • Chromosome 9, duplication 9q211 test
  • Chromosome 9q deletion syndrome1 test
  • Chromosome 9q duplication1 test
  • Chromosome Xp11.23-p11.22 duplication syndrome1 test
  • Chromosome Xp11.3 deletion syndrome1 test
  • Chromosome Xp21 deletion syndrome1 test
  • Chromosome Xq27.3-q28 duplication syndrome1 test
  • Chromosome Xq28 deletion syndrome1 test
  • Chromosome Xq28 duplication syndrome1 test
  • Chronic lymphocytic leukemia1 test
  • Chronic myelogenous leukemia2 tests
  • Complete trisomy 13 syndrome6 tests
  • Complete trisomy 18 syndrome6 tests
  • Complete trisomy 21 syndrome5 tests
  • Congenital adrenal hyperplasia1 test
  • Cystic fibrosis2 tests
  • Deficiency of alpha-mannosidase4 tests
  • Deficiency of N-acetylglucosamine-1-phosphotransferase1 test
  • Deletion of long arm of chromosome 181 test
  • Deletion of short arm of chromosome 181 test
  • DiGeorge syndrome/velocardiofacial syndrome complex 21 test
  • Duchenne muscular dystrophy3 tests
  • Dysostosis multiplex4 tests
  • Dystonia 12 tests
  • Ectodermal dysplasia, X-linked1 test
  • Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR1 test
  • Epidermolysis bullosa simplex1 test
  • Fabry disease2 tests
  • Factor V deficiency1 test
  • Fanconi anemia2 tests
  • Fragile X syndrome1 test
  • Friedreich's ataxia1 test
  • Fucosidosis5 tests
  • Galactosylceramide beta-galactosidase deficiency3 tests
  • Gaucher disease7 tests
  • Glutaric aciduria, type 11 test
  • Glycogen storage disease type 1A1 test
  • Glycogen storage disease type III2 tests
  • Glycogen storage disease, type II2 tests
  • GM1 gangliosidosis2 tests
  • Harlequin syndrome1 test
  • Hemoglobin E disease1 test
  • Hereditary factor II deficiency disease1 test
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease3 tests
  • Hereditary hemochromatosis1 test
  • Hereditary pancreatitis1 test
  • Homocystinuria due to MTHFR deficiency1 test
  • Homozygous 11p15-p14 deletion syndrome1 test
  • Huntington's chorea1 test
  • Klinefelter's syndrome, XXY3 tests
  • Koolen-de Vries syndrome1 test
  • Lamellar ichthyosis1 test
  • Leber's optic atrophy1 test
  • Leigh syndrome3 tests
  • Lysosomal acid lipase deficiency2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 11 test
  • Mental retardation, autosomal dominant 221 test
  • MERRF/MELAS overlap syndrome1 test
  • Metachromatic leukodystrophy3 tests
  • Miller Dieker syndrome1 test
  • Mitochondrial diseases1 test
  • Mucopolysaccharidosis type I1 test
  • Mucopolysaccharidosis type VI4 tests
  • Mucopolysaccharidosis type VII6 tests
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-II4 tests
  • Mucopolysaccharidosis, MPS-III-A4 tests
  • Mucopolysaccharidosis, MPS-III-B4 tests
  • Mucopolysaccharidosis, MPS-IV-A6 tests
  • Mucopolysaccharidosis, MPS-IV-B6 tests
  • Multiple congenital anomalies2 tests
  • Myoclonus with epilepsy with ragged red fibers1 test
  • Myotonic dystrophy2 tests
  • Neurofibromatosis, type 11 test
  • Neuropathy ataxia retinitis pigmentosa syndrome2 tests
  • Niemann-Pick disease, type A5 tests
  • Niemann-Pick disease, type B5 tests
  • Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
  • Prader-Willi syndrome2 tests
  • Pseudo-Hurler polydystrophy2 tests
  • Recurrent abortion1 test
  • Salla disease4 tests
  • Sandhoff disease4 tests
  • Shprintzen syndrome1 test
  • Sialidosis, type II1 test
  • Sickle cell-beta-thalassemia1 test
  • Sickle cell-hemoglobin D disease1 test
  • Spongy degeneration of central nervous system1 test
  • Tacrolimus response1 test
  • Tay-Sachs disease6 tests
  • Tay-Sachs disease, variant AB1 test
  • Trisomy X syndrome1 test
  • Turner syndrome1 test
  • Williams-Beuren region duplication syndrome1 test
  • Witteveen-kolk syndrome1 test
  • X chromosome deletion/duplication1 test

List of services

  • Enzyme study for various lysosomal storage disorders: Order Code: B, comments
  • Marker Chromosome Identification: Order Code: C, comments
  • Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: D, comments
  • Confirmation of research findings: Order Code: D
  • DNA Banking: Order Code: D
  • Genetic counseling: Order Code: GC

List of certifications/licenses


  • Department of Scientific and Industrial Research, Number: 14/409/2005-TU-V, Expiration date: 2020-03-31
  • European Research Network for Evaluation and Improvement of Scre, Number: ERN0527, Expiration date: 2018-03-31
  • ISO, Number: 9001:2008, Expiration date: 2018-09-15


  • State License, Number: 952, Expiration date: 2021-06-08

Participation in external programs

Standardization programs

  • Other

Data exchange Programs

  • Mutation-specific Databases
  • Other

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.

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