Centre of Excellence
Genetic Services Unit of National Institute of Biomedical Genomics at P.G. Polyclinic of the S.S.K.M. Hospital, Kolkata
A Genomic Service Unit that is unique in this State, has been formed at PG Polyclinic in collaboration with National Institute of Biomedical Genomics, Kalyani; Biomedical Genomics Centre, Kolkata and this Department. This is a five year project.
Genetic Services Unit is now capable of carrying out 47 different types of molecular genetic tests after due standardization and cross-checking with national and international genetic testing laboratories, which cost Rs. 2.6 lakhs in private diagnostic centres.
From its inception in 2017, Genetic Services Unit has performed and reported molecular genetic tests for 1024 patients and families with rare diseases who were referred from 8 State Government Medical Institutions across Kolkata and Midnapore Medical College. The Unit offers free testing of patient samples and the market value of total testing done until November, 2018is around Rs. 98.8 lakhs. All genetic tests on patients are referred to GSU by clinicians. Results of tests are provided by GSU only to the referring clinicians, not directly to the patients.
Genetic Services Unit is now a collaborating member of the European Molecular Genetics Quality Network(EMQN) (Lab ID 2279), and has been successfully registered with the National Centre for Biotechnology Information (NCBI), United States of America; Gene Test Registry (GTR) (GTR Lab ID: 506786) (https://www.ncbi.nlm.nih.gov/gtr/labs/506786/). Genetic Services Unit has registered a perfect score, that is, no mistakes, in a proficiency test conducted by the European Molecular Genetics Quality Network.
Following genetic tests have been standardized and service provision made ready by Genetic Services Unit:
| Sl. No. |
Name of the test |
Market price
(In Rs.)
|
| 1 |
Beta Thalassemia major and HbE trait |
10,000 |
| 2 |
HBE trait |
10,000 |
| 3 |
Sickle cell anaemia |
6,000 |
| 4 |
Hemophilia A |
6,000 |
| 5 |
TPMT polymorphisms in Thiopurine therapy |
12,000 |
| 6 |
G6PD enzyme assay |
1,000 |
| 7 |
Spinal Muscular Atrophy |
8,000 |
| 8 |
Achondroplasia |
19,500 |
| 9 |
MELAS |
6,000 |
| 10 |
Connexin 26 common mutation in pre-lingual sensorineural hearing loss |
6,000 |
| 11 |
Duchenne Muscular Dystrophy (DMD) |
6,500 |
| 12 |
XmnI polymorphism in Beta Thalassemia |
|
| 13 |
Del F508 mutation in Cystic Fibrosis |
6,000 |
| 14 |
Factor V Leiden mutation |
6,000 |
| 15 |
Prothrombin polymorphism in thrombophilia |
6,000 |
| 16 |
MTHFR polymorphism in thrombophilia |
6,000 |
| 17 |
BCR-ABL qPCR in CML* |
4,100 |
| 18 |
Fragile X syndrome* |
5,000 |
| 19 |
Spinocerebellar ataxia type 1,2,3,7,12 |
25,000 |
| 20 |
Friedreich`s ataxia |
5,000 |
| 21 |
Myotonic dystrophy |
5,000 |
| 22 |
Huntington disease |
5,000 |
| 23 |
Wilson disease |
18,000 |
| 24 |
Dystonia (DYT1/ DYT6) |
19,500 |
| 25 |
Familial hypokalemic periodic paralysis |
35,000 |
| 26 |
Chromosomal aneuploidies |
8,000 |
| 27-46 |
Chromosomal microdeletion syndromes (1p36 deletion syndrome, Wolf-Hirschhorn syndrome, Cri-du-Chat syndrome, Sotos syndrome, Saethre-Chotzen syndrome, Williams-Beuren syndrome, Williams-Beuren duplication syndrome, Langer-Giedion syndrome, WAGR syndrome , Prader-Willi syndrome, Angelman syndrome, Rubinstein-Taybi syndrome, Miller-Dieker syndrome, Lissencephaly-1, Smith-Magenis syndrome, Potocki-Lupski syndrome, Alagille syndrome, DiGeorge syndrome, 22q11.2 microduplication syndrome, Phelan-McDermid syndrome) |
8,000 |
| 47 |
Prader – Willi syndrome / Angelman syndrome (Methylation-specific MLPA) |
8,000 |
Amount that would have to be spent if all the genetic tests carried out by GSU were to be carried out by an external service provider:
| Disease
(Total – 45)
|
Number of patients tested
(upto 14.11.2018)
(Total – 1024)
|
Market price
(Rs./test)
|
Total cost
|
| Beta Thalassemia |
374 |
10,000 |
37,40,000 |
| Down Syndrome |
69 |
8,000 |
5,52,000 |
| Duchenne Muscular Dystrophy |
51 |
6,500 |
3,31,500 |
| Spinal Muscular Atrophy |
74 |
8,000 |
5,92,000 |
| Wilson Disease |
57 |
18,000 |
10,26,000 |
| Azathioprine Sensitivity |
72 |
12,000 |
8,64,000 |
| Cystic Fibrosis |
50 |
6,000 |
3,00,000 |
| Achondroplasia |
35 |
19,500 |
6,82,500 |
| Haemophilia A |
15 |
6,000 |
90,000 |
| Dystonia |
25 |
19,500 |
4,87,500 |
| Other rare diseases |
202 |
6,000 |
12,12,000 |
|
|
Total |
98,77,500 |
Referral Cases from Medical Institutions
| Serial no.
|
Referral Hospitals
|
Number of patient referrals
during 01.09.2018- 14.11.2018
|
| 1 |
SSKM & IPGMER, Dept. of Neonatology |
45 |
| 2 |
SSKM & IPGMER, Dept. of Paediatric Medicine |
45 |
| 3 |
SSKM & IPGMER, Other Depts. |
11 |
| 4 |
Medical College and Hospital, Kolkata |
27 |
| 5 |
CNMC, Neurology |
15 |
| 6 |
Dr. B C Roy PGIPS, Paediatrics |
9 |
| 7 |
NRS Medical College and Hospital |
8 |
| 8 |
Bangur Institute of Neurosciences |
6 |
| 9 |
Chittaranjan Seva Sadan, Paediatrics |
5 |
| 10 |
Medical College and Hospital, Midnapore |
1 |
|
Total |
172* |
| *Processing of these 172 samples required 150 genetic assays and 105 DNA sequencing runs. In other words, each patient referred to GSU usually requires multiple DNA tests and sequencing. |
Genetic Tests requested for by Referrals:
| Tests requested for (Period: 01.09.18-14.11.18)
|
Number of referrals
|
| Achondroplasia (PCR_RFLP) |
2 |
| Hemophilia A (F8 gene Intron 22 inversion by Inverse PCR) |
1 |
| SMA (PCR-RFLP/MLPA) |
19 |
| TPMT (ARMS-PCR) |
2 |
| Thrombophilic Factor Analysis (F2 G20210A , F5 Leiden by PCR-RFLP) |
5 |
| DiGeorge Syndrome (MLPA) |
1 |
| Cystic Fibrosis del508 mutation (ARMS-PCR) |
14 |
| Microdeletion Syndrome (MLPA) |
11 |
| Wilson's Disease (Sanger sequencing of exon 2, 4, 8, 14, 18 and 19 of ATP7B gene) |
13 |
| FHPP (CACNA1S gene exons 4,5,11,30,31 and SCN4A gene exons 5,12,13,24 by Sanger sequencing) |
3 |
| Aneuploidy (QF-PCR / MLPA) |
25 |
| Connexin 26 (PCR-RFLP) |
2 |
| FMR1 (Fragile X) (Long PCR followed by capillary electrophoresis) |
2 |
| Dystonia (Dyt1, 6) (By Sanger sequencing of exon 5 of TOR1A gene (c.907_909delGAG mutation) and all coding exons of THAP1 gene) |
1 |
| SCA (1,2,3,7,12) (PCR) |
10 |
| Prader-Willi Syndrome by Methylation Specific MLPA |
3 |
| MELAS (PCR-RFLP) |
1 |
| Huntington's Diseases (QF-PCR and fragment analysis by capillary electrophoresis) |
4 |
| Myotonic Dystrophy (Long PCR followed by TP-PCR and fragment analysis by capillary electrophoresis |
2 |
| Thalassemia (HBB gene mutation by ARMS-PCR, PCR-RFLP followed by Sanger sequencing) |
43 |
| DMD by MLPA |
5 |
Picture gallery of Genetic Services Unit:
State of the art Biotechnology Laboratory established by Jagadis Bose National Science Talent Search:
A State of the art Biotechnology Laboratory in Bengal for young budding scientists has been set up in JBNSTS with an aim to permeate hands-on experience of Biotechnology related experiments to the high school students of West Bengal. The laboratory has been established and developed under the financial support from the Department of Science& Technology and Biotechnology, Government of West Bengal. JBNSTS has created a state-of-the-art setting for technological innovations and scientific research that would act as a catalyst for the nation’s development and prosperity, by and large. Till September, 2018, four workshops have been done with 3 schools and altogether 80 students along with 8 teachers.
The table below offers a glimpse of the experiments that the students would engage in under the supervision of Biotechnology Facilitators of JBNSTS:
| Sl No.
|
Name of The Experiments
|
| 1 |
Bacterial Growth Curve |
| 2 |
DNA Isolation from Bacteria |
| 3 |
Polymerase Chain Reaction (PCR) of a bacteria gene |
| 4 |
DNA Gel Electrophoresis of Genomic DNA and PCR product |
| 5 |
Investigation of phenolic compound from Tea |
| 6 |
Estimation of Antioxidant property of Tea and fruits |
| 7 |
Estimation of Curcumin by Thin layer Chromatography |
| 8 |
Separation of Pigments of a green tea |
| 10 |
3 |
List of Instrument used in the Biotechnology Workshop for High School Students:
Workshop photographs at State of the art Biotechnology Laboratory in Bengal for young budding students Scientists, JBNSTS utilizing instrumentational facility provided by DSTBT:
State of the art Biotechnology Laboratory in Bengal for young budding students Scientists, JBNSTS utilizing instrumentational facility provided by DSTBT
State of the art Biotechnology Laboratory in Bengal for young budding students Scientists, JBNSTS utilizing instrumentational facility provided by DSTBT
State of the art Biotechnology Laboratory in Bengal for young budding students Scientists, JBNSTS utilizing instrumentational facility provided by DSTBT
State of the art Biotechnology Laboratory in Bengal for young budding students Scientists, JBNSTS utilizing instrumentational facility provided by DSTBT
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