MTHFR Gene Mutation Test

A genetic test identifying variants in the MTHFR gene (C677T and A1298C) that affect how your body processes folate and regulates homocysteine. Approximately 10-15% of Australians carry two copies of the C677T variant, reducing enzyme activity by up to 70%. This leads to impaired methylation, elevated homocysteine, and altered requirements for specific B vitamin forms — methylfolate instead of folic acid, methylcobalamin instead of cyanocobalamin.

MTHFR (methylenetetrahydrofolate reductase) is an enzyme that converts folate into its active form, methylfolate — which is required for DNA synthesis, neurotransmitter production, homocysteine metabolism, and hundreds of other methylation reactions. Variants in the MTHFR gene reduce enzyme efficiency, and they are remarkably common: approximately 10-15% of Australians carry two copies of the C677T variant. This genetic test identifies the two most clinically significant MTHFR variants: C677T and A1298C. One copy of C677T reduces enzyme activity by approximately 35%; two copies reduce it by up to 70%. A1298C has a milder effect individually but compounds the impact when inherited alongside C677T (compound heterozygosity). The result is impaired folate metabolism, potentially elevated homocysteine, and altered requirements for specific B vitamin forms. The practical implication is supplementation strategy. People with MTHFR variants cannot efficiently convert synthetic folic acid (found in supplements and fortified foods) into active methylfolate. They benefit from methylfolate, methylcobalamin (active B12), and pyridoxal-5-phosphate (active B6) rather than the standard forms. This distinction is particularly important during pregnancy, where folate is critical for neural tube development. This is a one-time genetic test — your MTHFR status does not change. ClearLabs delivers results within 2-3 business days, identifying whether you carry zero, one, or two copies of each variant. The result informs not just supplement choices but also helps explain patterns seen in other tests (elevated homocysteine, low active B12 despite adequate intake, mood disorders).