Genetics Service Unit - Submitter

Genetics Service Unit (BRIC-National Institute of Biomedical Genomics)

General information

Genetics Service Unit
BRIC-National Institute of Biomedical Genomics
PG Polyclinic Building; 5 Suburban Hospital Road
Kolkata
West Bengal
India - 700020
https://www.nibmg.ac.in/p/gsu
Organization ID: 506786

Personnel

Paramita Bhattacharya, Staff
Phone: +91-8961882229
Email: [email protected]
Atanu Dutta, Medical Director
Phone: +919434582887
Email: [email protected]

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

ACMG Guidelines, 2015

Summary of submissions to ClinVar

Total submissions: 1

Gene

Gene	Submissions	Last Updated
HBB	1	Nov 27, 2018
LOC106099062	1	Nov 27, 2018
LOC107133510	1	Nov 27, 2018

Condition

Name	Submissions	Last Updated
beta Thalassemia	1	Nov 27, 2018

Testing in GTR

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Disease name	Number of tests
11p partial monosomy syndrome	1 test
4p partial monosomy syndrome	1 test
5p partial monosomy syndrome	1 test
7q11.23 microduplication syndrome	1 test
Achondroplasia	1 test
Alagille syndrome due to a JAG1 point mutation	1 test
Angelman syndrome	2 tests
Autosomal recessive nonsyndromic hearing loss 1A	1 test
Azorean disease	2 tests
Chromosome 1p36 deletion syndrome	1 test
Chromosome 22q11.2 microduplication syndrome	1 test
Congenital prothrombin deficiency	1 test
Cystic fibrosis	2 tests
DiGeorge syndrome	1 test
Down syndrome	1 test
Duchenne / Becker Muscular Dystrophy	1 test
Duchenne muscular dystrophy	1 test
Fragile X syndrome	1 test
Friedreich ataxia 1	1 test
Huntington disease	2 tests
Langer-Giedion syndrome	1 test
Lissencephaly due to LIS1 mutation	1 test
MELAS syndrome	1 test
Miller Dieker syndrome	1 test
Nondisjunction	4 tests
Phelan-McDermid syndrome	1 test
Potocki-Lupski syndrome	1 test
Prader-Willi syndrome	2 tests
Rubinstein-Taybi syndrome due to CREBBP mutations	1 test
Saethre-Chotzen syndrome	1 test
Sickle cell disease and related diseases	1 test
Smith-Magenis syndrome	1 test
Sotos syndrome	1 test
Spinal muscular atrophy	1 test
Spinocerebellar ataxia 7	2 tests
Spinocerebellar ataxia type 1	4 tests
Spinocerebellar ataxia type 2	2 tests
Steinert myotonic dystrophy syndrome	1 test
Thiopurine S-methyltransferase deficiency	1 test
Thrombophilia due to activated protein C resistance	1 test
Werdnig-Hoffmann disease	1 test
Williams syndrome	1 test
Wilson disease	1 test
beta Thalassemia	4 tests

ClinVar

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