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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.
1 MTHFR variants are very common in the general population. 2  MTHFR variant C677T is considered a strong determinant of folate status in women of reproductive age 1 and has been associated with lower levels of red blood cell folate and elevated homocysteine.