“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.
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.
| 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 |
| 18. | MELAS | PCR-RFLP |
| 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 |
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) (https://www.ncbi.nlm.nih.gov/gtr/labs/506786/
Contact: Dr. Paramita Bhattacharya (Tel: +91-33-46033246; E-mail: gsu.bmgu@nibmg.ac.in)
Genetic Services Unit, Biomedical Genomics Unit National Institute of Biomedical Genomics PG Polyclinic Building, 5 Suburban Hospital Road Kolkata, West Bengal, India 700020.
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