MTHFR Genotyping
The methylenetetrahydrofolate reductase (MTHFR) catalyzes the reaction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is involved in folate metabolism. The variant 677C>T in MTHFR gene causes production of a thermolabile enzyme with reduced enzymatic activity.
As a result, reduced conversion of homocysteine to methionine leads to an accumulation of homocysteine in the plasma (hyperhomocysteinaemia). Enhanced homocysteine plasma concentration is a risk factor for coronary heart disease, thrombosis, and arterosclerosis. In addition, the variant MTHFR 1298A>C in the MTHFR gene has been associated with increased risk for cardiovascular diseases.
The presence of both variant (C677T and A1298C) in same patient is described as a risk factor for defects of the neural tube. MTHFR genotyping is an important pharmacogenomic test used to assess whether few therapies will be effective on patients who may have a MTHFR gene polymorphism as mentioned above.
Accreditations
The above accreditations have been granted to NEUBERG SUPRATECH REFERENCE LABORATORIES PRIVATE LIMITED (NSRL). The Neuberg Center for Genomic Medicine (NCGM) is affiliated to NSRL.