Methylenetetrahydrofolate Reductase (MTHFR)

The Methylenetetrahydrofolate Reductase (MTHFR) Gene Mutation Test evaluates variations in the MTHFR gene, which provides instructions for making an enzyme critical to how your body processes folate (vitamin B9) and manages homocysteine levels.

The test looks for the two most common variants (polymorphisms) of the MTHFR gene:

C677T - The most thoroughly studied variant. Inheriting two copies of this variant (homozygous) can significantly reduce MTHFR enzyme activity.

A1298C - A milder variant. Inheriting two copies, or one copy of both C677T and A1298C (compound heterozygous), can also moderately reduce enzyme efficiency.