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Diseases

Genetic and Rare Diseases Information Center (GARD)

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MTHFR gene mutation

*

* Not a rare disease

Other Names for this Disease

  • Methylenetetrahydrofolate reductase mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is genetic testing available for an MTHFR gene mutation?

Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood, especially when a person has a personal or family history of cardiovascular conditions such as coronary artery disease, blood clots, and stroke.[1] However, The American Heart Association recommends against testing for the common MTHFR gene mutations (C677T and A1298C) as a screen for increased risk of cardiovascular conditions and the College of American Pathologists and the American College of Medical Genetics recommend against testing for C677T and A1298C in people with blood clots. This is because the relationship between C677T and A1298C mutations and risk for cardiovascular disease is not completely understood.[1][2]

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Last updated: 12/11/2014

References
  1. MTHFR Mutation. Lab Tests Online. April 2014; http://labtestsonline.org/understanding/analytes/mthfr/tab/test.
  2. Hickey SE, Curry CJ, Toriello HV.. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. February 2013; 15(2):153-156.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Lab Tests Online has information on testing that is related to MTHFR gene mutation.
Other Names for this Disease
  • Methylenetetrahydrofolate reductase mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.