Methylene tetrahydrofolatereductase (MTHFR) mutation
EDTA Peripheral blood
Storage and stability information:
Room temperature – 1 week
Once per week
PCR, Invader assay
NEGATIVE for the MTHFR C677T mutation
The MTHFR gene is involved in the regulation of methylenetetrahydrofolate metabolism and mutations within this gene are associated with reduced enzyme activity. This assay detects the MTHFR C677T and A1298C mutations. Carriers of two copies of the C677T mutation or carriers of one copy of the C677T and one copy of the A1298C mutation have significantly elevated homocysteine levels and increased risk of cardiovascular disease; however mutation status is not an independent risk factor.