Reliable results are dependent on proper specimen collection. This test was designed to test the most common MTHFR mutation 677 (C to T) and 1298 (A to C) and a negative result may not account for other rare MTHFR mutations at other positions or different polymorphisms at the positions tested.

The MTHFR gene plays a central role in folate and homocysteine metabolism by catalyzing the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the primary circulatory form of folate which is utilized in homocysteine re-methylation to methionine. Homocysteine levels are an independent risk factor for heart disease and stroke. Specific mutations within the MTHFR gene, specifically C677T, are a common polymorphism seen in various Caucasian populations in which homozygosity for the polymorphism has been linked to increased risks for heart disease and venous thromboembolic disease. The A1298C polymorphism is the only other polymorphism in the adult population that has been linked to increased thromboembolism and heart disease.  This second polymorphism does not affect MTHFR function as strongly as C667T but is a second predisposing alteration. This assay will detect these two polymorphisms C677T and A1298C in the MTHFR gene.