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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.
One example, and often the first mutation tested, is MTHFR. MTHFR stands for methylenetetrahydrofolate reductaseâan enzyme that activates folic acid by adding a methyl group to it. Thatâs right, plain old folic acidâthe same folic acid found in your multivitamin and in fortified foods.