MTHFR Test

A genetic test screening for the two most common MTHFR gene variants — C677T and A1298C — that affect the body's ability to process folate and regulate homocysteine levels. Relevant for cardiovascular risk assessment, pregnancy planning, and understanding methylation capacity.

The MTHFR gene encodes the methylenetetrahydrofolate reductase enzyme, which plays a critical role in folate metabolism and the methylation cycle. Variants in this gene — particularly C677T and A1298C — can reduce enzyme activity by up to 70%, impairing the conversion of folic acid to its active form (methylfolate) and leading to elevated homocysteine levels. Elevated homocysteine is an independent risk factor for cardiovascular disease, stroke, and blood clots. It is also associated with increased risk of neural tube defects during pregnancy, making MTHFR testing particularly relevant for women planning to conceive. Those with MTHFR variants often benefit from supplementing with methylfolate rather than standard folic acid. Methylation affects hundreds of biological processes including DNA repair, neurotransmitter production, detoxification, and immune function. Understanding your MTHFR status provides actionable information that can guide supplementation choices and inform your healthcare providers about potential metabolic vulnerabilities. This is a one-time genetic test — your MTHFR genotype does not change over time, so it only needs to be performed once.