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The Center for Genetic Studies & Research (CGSR) is a newly established center running successfully for the past 8 years at The Madras Medical Mission, Chennai, providing genetic services with facilities for conducting diagnostics, counselling, academics and research housed with advanced equipment and technology. It is spread over 1200 sq. ft and includes state-of-the-art facilities from leading technology providers like Thermo Scientific, Olympus, Shimadzu, Abott Molecular, Eppendorf including a cytogenetic workstation coupled with Leica microscope and Cytovision software version 7.4 for carrying out clinical and molecular cytogenetic and DNA based molecular genetic tests. CGSR aims to provide strong commitment to research and the development of new services such as molecular genetics and cancer diagnosis and risk assessment by collaborating closely with clinical practice and healthcare providers in order to assist patients and their families in the understanding of the diagnosis, prevention and management of genetic disorders.

Highlights

  • The CGSR houses diagnostic services with an extensive range of cytogenetic testing such as prenatal and post–natal genetic screening, haemotological disorders, sperm aneuploidy tests (SAT), fluorescence in situ hybridisation (FISH), etc.
  • As per the PCPNDT Act of 1994, registration has been granted by the Government of Tamil Nadu to conduct prenatal genetic diagnosis. A dedicated Fetal Medicine Unit works hand-in-hand with CGSR to provide the prenatal testing services.
  • CGSR is involved in teaching genetics to various units of The Madras Medical Mission (MMM) such as B.Sc/M.Sc. Nursing, B.Sc/M.Sc. MLT, MBBS/MD students on a regular basis and conducting on–the–job training, observership, internship and projects on clinical genetics for students from life science, biotechnology, biomedical genetics and genetic engineering background.
  • Published 22 original research articles and reviews in peer-reviewed journals and presented 30 invited guest lectures/oral/poster presentations in national and international forums since the centre’s inception.

Dr. Bibhas Kar

Dr. Bibhas Kar holds a Ph.D. degree in Life Science and is currently a Consultant and Head, at Centre for Genetic Studies & Research, The Madras Medical Mission, Chennai. He has over 22 years of experience in the field of human genetics. He has been honored with many prestigious international and national fellowships and awards which includes Stevens Shapiro Memorial Fellowship from the UK; International Union of Biochemistry and Molecular Biology Young Scientist Award from the USA; Indian Science Congress Association Young Scientist Award from India and AMP 2018 International Membership Grant Award from The Association for Molecular Pathology USA for his work in Clinical Cytogenetics and Human Molecular Genetics. He is also a life member of various professional bodies including European Cytogeneticists Association (ECA). He has published 51 articles in national and international peer-reviewed journals and books. He has served on the editorial board of several journals. He has earlier worked at Sankara Nethralaya as Genetic Scientist and Apollo Hospitals as Consultant Geneticist and Head of the Department of Medical Genetics.

S.No.

Investigations

1

FISH for BCR/ABL – t(9;22), (PB/BM)

2

FISH for PML/RARA – t(15;17), (PB/BM)

3

FISH for AML1/ETO – t(8;21), (PB/BM)

4

FISH for IGH/MYC – t(8;14), (PB/BM)

5

FISH for IGH/CCND1 – t(11;14), (PB/BM)

6

FISH for Prader Willi/Angelman syndrome – 15q11 (PB/CVS/AF/FBS)

7

FISH for Di George like syndrome DGS2 – 10p14 (PB/CVS/AF/FBS)

8

FISH for Di George TBX1 – 22q11.2 (PB/CVS/AF/FBS)

9

FISH for Miller-Dieker – 17p13.3 (PB/CVS/AF/FBS)

10

FISH for Smith-Magenis – 17p11.2 (PB/CVS/AF/FBS)

11

FISH for Wolf-Hirschhorn 4p (PB/CVS/AF/FBS)

12

FISH for Cri Du Chat 5p (PB/CVS/AF/FBS)

13

FISH for 1p36 deletion syndrome (PB)

14

FISH for chromosome 21, AF/ CVS/ FBS/ PB

15

FISH for chromosome 18, AF/ CVS/ FBS/ PB

16

FISH for chromosome 13, AF/ CVS/ FBS/ PB

17

FISH for chromosome X & Y, AF/ CVS/ FBS/ PB

18

FISH For Di George / VCFS – 22q11, PB/ CVS/AF/FBS

19

FISH for Williams syndrome – 7q11.23, PB/CVS/AF/FBS

20

Sperm aneuploidy test by FISH (13/18/21/X/Y)

21

Sperm aneuploidy test by FISH (13/21)

22

Sperm aneuploidy test by FISH (18/X/Y)

23

X–Y sperm identification by FISH

24

Products of conception (POC) by FISH (13/18/21/X/Y)

25

Products of conception (POC) by FISH (13/21)

26

Products of conception (POC) by FISH (18/X/Y)

27

FISH for aneuploidy screening (13/18/21/X & Y) – AF/ CVS/ FBS

28

FISH for chromosome 13,18 and 21 (AF/CVS/FBS/PB)

29

FISH for sex mismatched BMT study, (BM)

30

DNA testing of fragile X, (PB)

31

DNA testing for Y chromosome microdeletion, (PB)

32

DNA testing for Gauchers – 6 common mutations, exons 9 &10 (PB)

33

DNA testing for Gauchers prenatal – 6 common mutations, exons 9&10, (CVS/AF)

34

DNA testing for Gauchers – prenatal diagnosis of known mutation (CVS/AF)

35

DNA testing for Gauchers – coding sequence (PB)

36

DNA testing for glycogen storage disease 1A – all exons (PB)

37

DNA testing for glycogen storage disease 1A – prenatal diagnosis of known mutation, (CVS/AF)

38

DNA testing for glycogen storage disease 1B – all exons, (PB)

39

DNA testing for glycogen storage disease 1B – prenatal diagnosis of known mutation, (CVS/AF)

40

DNA testing for Noonan syndrome – PTPN11 – exons 3 & 8 (PB)

41

DNA testing for Noonan syndrome –PTPN11 – all exons (PB)

42

DNA testing for Noonan syndrome – SOSI-6 exons (PB)

43

DNA testing for Noonan syndrome – RAF1 – 3 exons (PB)

44

DNA XY– sex reversal – SRY (PB)

45

DNA testing for achondroplasia – FGFR3 – GLY 380 ARG (PB)

46

DNA testing for fragile X suspected positive sample conformation – sizing of CGG repeats for suspected positive samples (PB)

47

DNA testing for progressive familial intrahepatice cholestasis – 1 PFIC1 – all exons (PB)

48

DNA testing for progressive familial intrahepatice cholestasis – 2 PFIC2 – all exons, (PB)

49

DNA testing for beta – Thalassemia – all exons (PB)

50

DNA testing for beta – Thalassemia – prenatal diagnosis package (parents + fetus) – all exons (PB/CVS/AF)

51

DNA testing for beta – Thalassemia – prenatal diagnosis –known mutation (CVS/AF)

52

DNA testing for Costello syndrome – HRAS – exon 1, PB

53

DNA testing for Costello syndrome – HRAS – coding sequences (PB)

54

DNA testing for connexin 26 – coding sequence, (PB)

55

DNA testing for connexin 43 – coding sequence, (PB)

56

DNA testing for spinal muscular atrophy (SMA) – homozygous deletion exon 7 of SMN gene, (PB)

57

DNA testing for spinal muscular atrophy (SMA) – prenatal diagnosis homozygous delection exon 7 of SMN gene (CVS/AF)

58

Karyotyping , products of conception (POC)

59

Karyotyping, skin biopsy (SB)

60

Karyotyping, fetal heart blood (FHB)

61

Karyotyping, bone marrow (BM)

62

Karyotyping for chromosome breakage syndrome, (PB)

63

Karyotyping, chorionic villi sampling (CVS)

64

Karyotyping, amniotic fluid (AF)

65

Karyotyping, fetal blood sampling (FBS)

66

C Banding

67

NOR Banding

68

Karyotyping (PB)

69

Genetic counselling


GOMED (Genomics and other omics tools for Enabling Medical Decision) an outreach programme initiated at CSIR–IGIB is made available at MMM-CGSR bringing equitable access to genetic testing for frequent genetic diseases by providing free diagnosis.

  • Reproductive Genetics
  • - Genetic aspects of male and female factor infertility,
    - Genetic aspects of bad obstetric history with special reference to recurrent pregnancy loss, in vitro failure

  • Cardiac Genetics
  • - Genetic aspects of congenital heart diseases, dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmia, and other rare cardiac genetic diseases.

  • Signed MoU with CSIR–IGIB, Delhi to carry out multidisciplinary research regarding:
  • - Genomic approaches towards understanding mutations and biology of rare cardiac genetic diseases and development of approaches for rapid diagnosis or screening.
    - Collaborative research in the application of genomics in clinical practice related to genetic diseases and genetic traits especially those prevalent in the region.

  • 3 months Certificate Course titled “Advanced Course in Clinical and Molecular Cytogenetics”
  • 1 year PG Diploma Course in Human Cytogenetics*
  • Project for a period of 6 months.
  • Internship (15 days) on:
  • Clinical and Molecular Cytogenetics
  • Basic Molecular Techniques*
  • *Yet to be established