Institute of Human Genetics

Institute of Human Genetics, IHG
Foundation for Research in Genetics and Endocrinology (FRIGE)
Department: Advanced Genomic Technologies Division
FRIGE House, Jodhpur Village Road, Satellite
Ahmedabad, Gujarat, India 380015
Phone: +91-79-26921414 (India)
Fax: +91-79-26921415 (India)
Email: [email protected]
Online Contact: https://geneticcentre.org/contact/
Website: http://www.geneticcentre.org
Affiliated with:
- ICMR task force for Rare Disease, http://www.ICMR.nic.in
- ICMR task force for mutation study of lysosomal storage disorder, http://www.ICMR.nic.in
- Maharaj Sayajirao University, http://www.msubaroda.ac.in
- South Africa Open Genome Project

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GTR Lab ID: 506255, Last updated:2024-09-30

Personnel

Director: Frenny Sheth, PhD, Lab Director
Phone: +91-79-26921414 (India)
Fax: +91-79-26921415 (India)
Email: [email protected]
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: [email protected]
Director: Jayesh Sheth, PhD, Scientific Director
Phone: +91-79-26921414 (India)
Fax: +91-79-26921415 (India)
Email: [email protected]
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

190 conditions/phenotypes with 113 tests
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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
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
Down syndrome5 tests
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
All biochemical test are prefixed with B
Custom Balanced Chromosome Rearrangement Studies: Order Code: C
Custom Deletion/Duplication Testing: Order Code: C
Marker Chromosome Identification: Order Code: C, comments
All cytogenetic test are prefixed with C
Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: D, comments
All molecular test are prefixed with D
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

Certifications

Department of Scientific and Industrial Research, Number: 14/409/2005-TU-V, Expiration date: 2026-03-31
EMQN, Number: 2673, Expiration date: 2024-12-31
European Research Network for Evaluation and Improvement of Scre, Number: ERN0527, Expiration date: 2024-12-31
ISO, Number: 9001:2015, Expiration date: 2026-03-18

Participation in external programs

Standardization programs

Other

Data exchange Programs

Mutation-specific Databases
Other

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