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Diseases

Genetic and Rare Diseases Information Center (GARD)

MTHFR gene mutation

*

* Not a rare disease
Información en español

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 to detect MTHFR gene mutations?

Yes. 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.

Genetic testing for C677T and A1286C may be indicated in a person with elevated homocysteine levels and one or more of the following,[1][2]

coronary artery disease
venous thromboembolism
stroke
heart attack
peripheral artery disease
aneurysm
high blood pressure
recurrent pregnancy loss

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. 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][3]

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: 2/8/2016

References
  1. MTHFR Mutation. Lab Tests Online. April 2014; http://labtestsonline.org/understanding/analytes/mthfr/tab/test.
  2. MTHFR Variant Analysis. Cleveland Clinic Laboratories. http://clevelandcliniclabs.com/assets/pdfs/technical-briefs/mthfr-81692.pdf. Accessed 2/8/2016.
  3. 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.
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.