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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.
An important test for women to ask their doctors for (ideally before pregnancy, but any time is helpful) is a test for the MTHFR gene mutation. The MTHFR gene mutation is a common genetic mutation, which affects one in four people seriously and one in two mildly.