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Molecular Genetics

PSG Center for Molecular Medicine and Therapeutics is an exclusive center located in the premises of PSG IMSR and Hospitals, thus fostering an interdisciplinary approach to biological research and also offers molecular diagnostic service. Recently, diagnostic division of CMMT is accredited by NABL for carrying out molecular genetic tests and enumeration of CD4 and CD8 in blood samples using single platform flow cytometry based technology.

The tests that are available are as follows

  • Molecular genetic test for Hemochromatosis (C282Y, H63D, and S65C)
  • Methyl Tetra Hydro Folate Reductase (MTHFR) genetic test (C677T (rs1801133))
  • Prothrombin 20210 G > A genetic test
  • Factor V Leiden R506Q genetic test
  • Molecular genetics test for Spinal Muscular Atrophy
  • Molecular genetics test for Sickle cell disease (HbS E6V)
  • Molecular genetics test for SPINK1 ((N34S, c.101A>G, rs17107315).
  • Molecular genetic test for Fragile X syndrome
  • Molecular genetic test for Huntington Disease
  • Molecular genetic test for Friedreich’s ataxia
  • Molecular genetics test for Beta-thalassemia (IVSI-1, IVSI-5, Cd 41/42, Cd 8/9 and 619 bp deletion)
  • Molecular genetics test for BRAF V600E
  • TPMT genotyping
  • Jak2 mutation test

Flow cytometry based tests

  • CD4 and CD8 count
  • HLA B27 test
  • Acute Leukemia panels
  • Chronic lymphocytic leukemia panels