MTHFR Genetic Test

The MTHFR gene provides instructions for making the methylenetetrahydrofolate reductase enzyme, which is critical for processing folate (vitamin B9) and converting homocysteine to methionine. Common variants in this gene, such as c.665C>T (C677T) and c.1286A>C (A1298C), can reduce the enzyme's activity. This can contribute to elevated homocysteine levels, although the clinical significance for conditions like thrombophilia or recurrent pregnancy loss is now considered limited. This test detects the presence of these specific genetic variants.