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MTHFR Gene

0055655

Methylenetetrahydrofolate Reductase (MTHFR) 2 Variants 0055655

About This Topic

Methylenetetrahydrofolate Reductase (MTHFR) 2 Variants (0055655) testing may be considered to determine a genetic contribution to hyperhomocysteinemia, although treatment for this condition depends on plasma/urine homocysteine and the patient’s symptoms rather than the presence or absence of these MTHFR variants. Not recommended for recurrent pregnancy loss, thrombophilia screening, neural tube defect risk assessment, or testing of family members of individuals with identified MTHFR variants as clinical utility has not been established.

Recommendation

Methylenetetrahydrofolate Reductase (MTHFR) 2 Variants (0055655) should not be used to determine risk for cardiovascular disease (CVD) or venous thromboembolism (VTE) because individual common genetic variants of this gene have only a modest correlation with risk for either disorder. This test may be found in EMR order sets, leading to overuse.

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MTHFR Gene