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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.
Blood testing for MTHFR mutations has become available at standard labs over the past couple of years, and now those tests are becoming more affordable, plus new tests have become available that allow us to test for MTHFR mutations in saliva. Read all about how to test for genetic mutations in this article.