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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.
12 Facts about MTHFR. 1  MTHFR is an enzyme used in an important biochemical process called methylation. The MTHFR gene produces the MTHFR enzyme, but genetic mutations can inhibit this geneâs function. 2  Methylation converts folate and folic acid into the active or âmethylatedâ form your body can use: methylfolate or 5-MTHF.