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The methylenetetrahydrofolate reductase (MTHFR) mutation test is used to detect two relatively common mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood. It is not routinely ordered.
Two amino acid mutations in MTHFR, the C677T and the A1298C mutations, contribute to the potential for accumulation of homocysteine. The risks for elevated homocysteine are predominantly with the homozygous (two copies) state of each of these mutations, with the A1298 overall being less severe than the C677T mutation.