“Genetics Service Unit” was established by NIBMG in October 2016, as a project funded by Department of Biotechnology, Government of West Bengal, with Professor Partha P. Majumder as the P.I.  This initiative was taken to provide reliable and efficient genetic diagnostic testing service to individuals suspected to be suffering from a genetic disease or at-risk for a genetic disease and referred to by a clinician of a State Government hospital.  This is the first institution of its kind established in West Bengal with financial and infrastructural support of the State Government.

The Genetics Service Unit is located in the PG Polyclinic Building (SSKM Hospital Annex- 3) in Kolkata.

Since its inception in 2016, GSU has been performing genetic tests and providing reports free-of-cost to patients referred by clinicians of Government run hospitals in West Bengal. GSU has state-of-the-art equipment for carrying out genetic testing. Reports are provided to referring clinicians following international protocols.

A. The Genetics Service Unit has provided service to all the major hospitals in West Bengal
B. The impact of GSU as assessed by the number, type and quality of tests has increased over the years


Sl. No. Name of the test Method
1. Beta Thalassemia major (4 common mutations) Multiplex ARMS-PCR
2. HbE trait PCR-RFLP
3. HBB (exon1-2, exon 3) sequencing Sanger Sequencing
4. HBG2 XmnI polymorphism PCR-RFLP
5. Sickle cell anaemia ARMS-PCR
6. Hemophilia A Inverse-PCR
7. TPMT *3C (rs1142345) genotyping ARMS-PCR
8. Spinal Muscular Atrophy MLPA
9. Duchenne / Becker Muscular Dystrophy MLPA
10. Spinocerebellar ataxia types 1,2,3,7,12 F-PCR, TP-PCR
11. Friedreich`s ataxia F-PCR, TP-PCR
12. Myotonic dystrophy F-PCR, TP-PCR
13. Dystonia types 1 & 6 [sequencing of exon 5 of TOR1A gene and all coding exons of THAP1 gene ] Sanger sequencing
14. Huntington disease F-PCR
15. Wilson disease Sanger Sequencing
16. Familial hypokalaemia periodic paralysis Sanger sequencing
17. Cystic Fibrosis (Del F508 mutation in CFTR gene) ARMS-PCR
19. Achondroplasia PCR-RFLP
20. Connexin 26 (GJB2) c.71G > A(p.W24X) genotyping PCR-RFLP
21. Factor V Leiden mutation (F5 gene) PCR-RFLP
22. Prothrombin G20210A mutation (F2 gene) PCR-RFLP
23. Fragile X syndrome (sizing of alleles within normal range) F-PCR
24. Down Syndrome (Trisomy 21) Multiplex QF-PCR
25. Patau Syndrome (Trisomy 13) Multiplex QF-PCR
26. Edwards Syndrome(Trisomy 18) Multiplex QF-PCR
27. Chromosomal aneuploidies (13, 18, 21, X and Y) MLPA
28. Microdeletion Syndromes: 1p36 deletion Syndrome ; Wolf-Hirschhorn Syndrome; Cri-du-Chat Syndrome; Sotos Syndrome; Saethre-Chotzen Syndrome; Williams-Beuren Syndrome; Langer-Giedion Syndrome; WAGR Syndrome; Prader-Willi Syndrome; Angelman Syndrome; Rubinstein-Taybi Syndrome; Miller-Dieker Syndrome; Lissencephaly 1; Smith-Magenis Syndrome; Alagille Syndrome; DiGeorge Syndrome; 22q11.2 microduplication Syndrome; Phelan-McDermid Syndrome MLPA
29. Prader-Willi / Angelman Syndrome MS-MLPA
The quality of tests offered by GSU is regularly calibrated by comparing with national and international standards:

GSU has established partnerships with other prominent national laboratories for standardization and period validations of results. These laboratories include PGIMER, Chandigarh; SGPGI, Lucknow; CMC, Vellore and CDFD, Hyderabad. Genetics Service Unit (GSU), is a registered member of European Molecular Genetics Quality Network (EMQN), and has received certification for satisfactory performance in External Quality Assurance Scheme for DNA Sequencing (full) in years 2018, 2019 and 2020.

Genetic Services Unit has also been maintaining its registration with the National Centre for Biotechnology Information (NCBI), USA; Gene Test Registry (GTR Lab ID: 506786) (

Contact: Dr. Paramita Bhattacharya (Tel: +91-33-46033246; E-mail:

Send samples to:

Genetic Services Unit, Biomedical Genomics Unit National Institute of Biomedical Genomics PG Polyclinic Building, 5 Suburban Hospital Road Kolkata, West Bengal, India 700020.

Click here to download Test Request Form