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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.
Other studies have clearly tied genetic abnormalities such as a mutation in the folic acid-activating enzyme, MTHFR, to high homocysteine levels (and increased symptoms of mood disorders). This reinforces the notion that homocysteine metabolism is an important target in psychiatric imbalances (Coppen 2005).