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GTR Home > Laboratories > Institute of Human Genetics

Institute of Human Genetics

GTR Lab ID: 506255, Last updated:2023-10-05


  • Director: Frenny Sheth, PhD, Lab Director
    Phone: +91-79-26921414 (India)
    Fax: +91-79-26921415 (India)
    Email: frenny.sheth@frige.co.in
    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: Harsh Sheth, PhD, BS, Lab Director
    Phone: +91-79-26921414
    Email: harsh.sheth@frige.co.in
  • Director: Jayesh Sheth, PhD, Scientific Director
    Phone: +91-79-26921414 (India)
    Fax: +91-79-26921415 (India)
    Email: jayesh.sheth@frige.co.in
    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.

Conditions and tests

  • 15q11q13 microduplication syndrome1 test
  • 22q partial monosomy1 test
  • 3p- syndrome1 test
  • 4p partial monosomy syndrome1 test
  • 7q11.23 microduplication syndrome1 test
  • Achondroplasia1 test
  • Acute lymphoid leukemia1 test
  • Acute myeloid leukemia1 test
  • Alexander disease1 test
  • Alpha mannosidosis type II1 test
  • Ambiguous genitalia1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Angelman syndrome2 tests
  • Anomaly of sex chromosome1 test
  • Autism, susceptibility to, 151 test
  • Autism, susceptibility to, X-linked 41 test
  • B-cell chronic lymphocytic leukemia1 test
  • beta Thalassemia2 tests
  • Carcinoma of colon1 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • Chromosome 1, deletion q21 q251 test
  • Chromosome 1, duplication 1p21 p321 test
  • Chromosome 10q23 deletion syndrome1 test
  • Chromosome 11, deletion 11p1 test
  • Chromosome 12p deletion1 test
  • Chromosome 14 deletion1 test
  • Chromosome 14, deletion 14q, partial duplication 14p1 test
  • Chromosome 14q, proximal duplication1 test
  • Chromosome 14q11-q22 deletion syndrome1 test
  • Chromosome 15q11.2 deletion syndrome1 test
  • Chromosome 15q11.2 duplication syndrome1 test
  • Chromosome 15q13.3 microdeletion syndrome1 test
  • Chromosome 15q25 deletion syndrome1 test
  • Chromosome 16p12.1 deletion syndrome, 520kb1 test
  • Chromosome 16q22 deletion syndrome1 test
  • Chromosome 17, deletion 17q23 q241 test
  • Chromosome 17, duplication1 test
  • Chromosome 17p deletion1 test
  • Chromosome 17p13.1 deletion syndrome1 test
  • Chromosome 17p13.3 duplication syndrome1 test
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb1 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 19p13.13 deletion syndrome1 test
  • Chromosome 1q21.1 deletion syndrome1 test
  • Chromosome 1q21.1 duplication syndrome1 test
  • Chromosome 2, duplication(2)(p13)(p21)1 test
  • Chromosome 22q11.2 deletion syndrome, distal1 test
  • Chromosome 22q11.2 microduplication syndrome1 test
  • Chromosome 22q13 duplication syndrome1 test
  • Chromosome 2p12-p11.2 deletion syndrome1 test
  • Chromosome 2p16.1-p15 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 3q13.31 deletion syndrome1 test
  • Chromosome 3q29 microdeletion 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 8q21.11 deletion syndrome1 test
  • Chromosome 9, deletion 9q21.33q22.321 test
  • Chromosome 9, duplication 9q211 test
  • Chromosome 9q duplication1 test
  • Chromosome Xp11.23-p11.22 duplication syndrome1 test
  • Chromosome Xp21 deletion syndrome1 test
  • Chromosome Xq28 duplication syndrome1 test
  • Chronic myelogenous leukemia, BCR-ABL1 positive2 tests
  • Colorectal / endometrial cancer1 test
  • Complete trisomy 13 syndrome6 tests
  • Complete trisomy 21 syndrome5 tests
  • Congenital adrenal hyperplasia1 test
  • Congenital prothrombin deficiency1 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
  • Distal 10q deletion syndrome1 test
  • Distal 16p11.2 microdeletion syndrome1 test
  • Distal 7q11.23 microdeletion syndrome1 test
  • Distal monosomy 10p1 test
  • Distal trisomy 14q1 test
  • Duchenne muscular dystrophy3 tests
  • Early-onset generalized limb-onset dystonia2 tests
  • Ectodermal dysplasia, X-linked1 test
  • Epidermolysis bullosa dystrophica1 test
  • Epidermolysis bullosa simplex1 test
  • Fabry disease2 tests
  • Factor V deficiency1 test
  • Familial clubfoot due to 17q23.1q23.2 microduplication1 test
  • Familial colorectal cancer1 test
  • Fanconi anemia2 tests
  • Fragile X syndrome1 test
  • Friedreich ataxia1 test
  • Fucosidosis5 tests
  • Galactosylceramide beta-galactosidase deficiency3 tests
  • Gaucher disease7 tests
  • Glutaric aciduria, type 11 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 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 IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease3 tests
  • Hereditary hemochromatosis1 test
  • Hereditary pancreatitis1 test
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • Homozygous 11P15-p14 deletion syndrome1 test
  • Huntington disease1 test
  • Hurler syndrome4 tests
  • Intellectual disability, autosomal dominant 221 test
  • Kleefstra syndrome 11 test
  • Klinefelter syndrome3 tests
  • Koolen-de Vries syndrome1 test
  • Lamellar ichthyosis1 test
  • Leber optic atrophy1 test
  • Leigh syndrome3 tests
  • Lynch syndrome1 test
  • Lysosomal acid lipase deficiency2 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 11 test
  • MERRF syndrome1 test
  • MERRF/MELAS overlap syndrome1 test
  • Metachromatic leukodystrophy3 tests
  • Miller Dieker syndrome1 test
  • Mitochondrial disease1 test
  • Mucopolysaccharidosis type 11 test
  • Mucopolysaccharidosis type 64 tests
  • Mucopolysaccharidosis type 76 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
  • Multiple sulfatase deficiency1 test
  • Myotonic dystrophy2 tests
  • NARP syndrome2 tests
  • Neurofibromatosis, type 11 test
  • Neuronal ceroid lipofuscinosis 13 tests
  • Neuronal ceroid lipofuscinosis 23 tests
  • Niemann-Pick disease, type A5 tests
  • Niemann-Pick disease, type B5 tests
  • Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
  • Partial deletion of the long arm of chromosome 111 test
  • Partial deletion of the long arm of chromosome 141 test
  • Partial deletion of the long arm of chromosome 151 test
  • Partial deletion of the short arm of chromosome 111 test
  • Partial duplication of the short arm of chromosome 161 test
  • Partial monosomy of the short arm of chromosome 201 test
  • Prader-Willi syndrome2 tests
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Proximal 16p11.2 microdeletion syndrome1 test
  • Pseudo-Hurler polydystrophy2 tests
  • Rubinstein-Taybi syndrome due to 16p13.3 microdeletion1 test
  • Salla disease4 tests
  • Sandhoff disease4 tests
  • Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1 test
  • Sialidosis type 21 test
  • Sickle cell-beta-thalassemia1 test
  • Sickle cell-hemoglobin D disease1 test
  • SIN3A-related intellectual disability syndrome due to a point mutation1 test
  • Spongy degeneration of central nervous system1 test
  • Tacrolimus response1 test
  • Tay-Sachs disease6 tests
  • Tay-Sachs disease, variant AB1 test
  • Trisomy 186 tests
  • Trisomy 20p1 test
  • Trisomy X syndrome1 test
  • Turner syndrome1 test
  • Velocardiofacial syndrome1 test
  • X chromosome deletion/duplication1 test
  • X-linked intellectual disability-retinitis pigmentosa syndrome1 test
  • Xq27.3q28 duplication syndrome1 test

List of services

  • Enzyme study for various lysosomal storage disorders: Order Code: B, comments
  • Custom Balanced Chromosome Rearrangement Studies: Order Code: C
  • Custom Deletion/Duplication Testing: Order Code: C
  • 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
  • Prenatal testing: Order Code: D
  • Carrier testing: Order Code: D
  • DNA Banking: Order Code: D
  • Identity Testing: Order Code: D
  • Maternal cell contamination study (MCC): Order Code: D
  • Mutation Confirmation: Order Code: D
  • Whole Exome Sequencing: Order Code: D
  • Genetic counseling: Order Code: GC
  • Result interpretation: Order Code: GC

List of certifications/licenses


  • Department of Scientific and Industrial Research, Number: 14/409/2005-TU-V, Expiration date: 2026-03-31
  • EMQN, Number: 2673, Expiration date: 2023-12-31
  • European Research Network for Evaluation and Improvement of Scre, Number: ERN0527, Expiration date: 2024-03-31
  • ISO, Number: 9001:2015, Expiration date: 2024-03-31

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.