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Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme in the homocysteine metabolism pathway Inadequate MTHFR activity is the most common cause of elevated blood homocysteine (hyperhomocysteinemia), though this may also be caused by other genetic, physiologic, or environmental factors MTHFR gene mutation affects folate metabolism, linked to higher risk of cardiovascular issues, blood clots, and certain birth defects It influences methylation and homocysteine levels MTHFR Test FAQs What is an MTHFR Test ? Everyone has MTHFR genes An MTHFR test looks at any mutations that can occur as a result of over- or under-producing homocysteine levels An MTHFR test determines if you have one, two, or multiple MTHFR gene mutations What does the MTHFR gene do? The MTHFR gene is one of the 20,000 genes in the human body See full list on testdirectory questdiagnostics com Jun 25, 2026 · MTHFR Test Information Learn more about the MTHFR blood test and how to get the gene test to check for an MTHFR mutation An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile variants: -Methionine synthase deficiency -Cobalamin (Cbl) metabolism -Combined methyl-Cbl and adenosyl-Cbl deficiencies: Cbl C2, Cbl D2, and Cbl F3 deficiencies Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), ACD solution A or B (yellow-top) tube, or lithium heparin (green-top) tube Hyperhomocysteinemia is multifactorial, involving genetic, clinical, and environmental risk factors Reduced enzyme activity of methylenetetrahydrofolate reductase ( MTHFR ) is a genetic risk factor for hyperhomocysteinemia, particularly when serum folate levels are low There are two common variants in the MTHFR gene that can decrease enzyme activity: c 665C>T (p Ala222Val), legacy name C677T
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