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Genetics Service Unit (National Institute of Biomedical Genomics)

General information

Genetics Service Unit
National Institute of Biomedical Genomics
PG Polyclinic Building; 5 Suburban Hospital Road
West Bengal
India - 700020
Organization ID: 506786


View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1


GeneSubmissionsLast Updated
HBB1Nov 27, 2018
LOC1060990621Nov 27, 2018
LOC1071335101Nov 27, 2018


NameSubmissionsLast Updated
beta Thalassemia1Nov 27, 2018

Testing in GTR

Disease nameNumber of tests
11p partial monosomy syndrome1 test
4p partial monosomy syndrome1 test
5p partial monosomy syndrome1 test
7q11.23 microduplication syndrome1 test
Achondroplasia1 test
Alagille syndrome due to a JAG1 point mutation1 test
Angelman syndrome2 tests
Autosomal recessive nonsyndromic hearing loss 1A1 test
Azorean disease2 tests
Chromosome 1p36 deletion syndrome1 test
Chromosome 22q11.2 microduplication syndrome1 test
Complete trisomy 21 syndrome1 test
Congenital prothrombin deficiency1 test
Cystic fibrosis2 tests
DiGeorge syndrome1 test
Duchenne / Becker Muscular Dystrophy1 test
Duchenne muscular dystrophy1 test
Fragile X syndrome1 test
Friedreich ataxia 11 test
Huntington disease2 tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Langer-Giedion syndrome1 test
Lissencephaly due to LIS1 mutation1 test
Miller Dieker syndrome1 test
Nondisjunction4 tests
Phelan-McDermid syndrome1 test
Potocki-Lupski syndrome1 test
Prader-Willi syndrome2 tests
Rubinstein-Taybi syndrome due to CREBBP mutations1 test
Saethre-Chotzen syndrome1 test
Sickle cell disease and related diseases1 test
Smith-Magenis syndrome1 test
Sotos syndrome1 test
Spinocerebellar ataxia 72 tests
Spinocerebellar ataxia type 14 tests
Spinocerebellar ataxia type 22 tests
Steinert myotonic dystrophy syndrome1 test
Thiopurine S-methyltransferase deficiency1 test
Thrombophilia due to activated protein C resistance1 test
Werdnig-Hoffmann disease2 tests
Williams syndrome1 test
Wilson disease1 test
beta Thalassemia4 tests