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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.
If the MTHFR mutation test is negative, the C677T and A1298C mutations were not detected and an elevated homocysteine level is likely to be due to another cause. Other, rarer MTHFR genetic mutations will not be detected with typical testing.