Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Although MTHFR protein does not participate in the clotting cascade as other proteins such as FII and FV (and therefore belonging to the well-known group of coagulation factors), the involvement of MTHFR in the folate metabolic pathway may affect thrombophilia development, as well as increased cancer risk or Alzheimer’s disease appearance.
MTHFR gen can present different polymorphisms. The most common and studied variant is the MTHFR C677T polymorphism but, also, the MTHFR A1298C mutation has been studied. The frequency of both MTHFR polymorphisms differs among the different ethnicities.
Genvinset® MTHFR A1298C is a semi-automated kit for the in vitro qualitative detection of the A1298C polymorphism (NCBI dbSNP rs1801131; NM_001330358.2:c.1409A>C) in the Methylene tetrahydrofolate reductase (MTHFR) gene (OMIM: 607093) associated with thrombophilia risk in genomic DNA extracted from whole blood using Real Time PCR technology with specific TaqMan® probes.
Patients who can benefit from this determination are those referred by a specialist. The results of this test should not be the only ones on which the therapeutic decision is based and should be used as an aid in the diagnosis together with results of other markers of the disease.
The intended user of the kit is technical personnel trained to carry out the protocol and the interpretation of results described in the instructions for use.
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