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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.
This test is basically looking for two types of genetic mutations known as C677T and A1298C that affect the MTHFR enzyme involved in folate metabolism in the body. Proper MTHFR enzyme function ensures that homocysteine (toxic metabolite) is properly metabolized to the amino acid methionine which then makes SAMe.