The MTHFR gene encodes an enzyme involved in protein biosynthesis. In particular, this enzyme participates in the conversion of homocysteine to methionine, which is necessary for the synthesis of proteins and other molecules.
Both polymorphisms have been found to cause reduced enzyme activity, fact that leads to higher plasma homocysteine levels. The homozygous carriership of the MTHFR C677T polymorphism has been associated with an increased risk of arterial and venous thrombosis in the presence of additional risk factors.
The analysis is carried out using ARMS-PCR for the detection of MTHFR C677T and A1298C mutations
Sample type: Peripheral blood in EDTA
Time to result: 1 week