Genet Med. 2013 Feb;15(2):153-6. doi: 10.1038/gim.2012.165. Epub 2013 Jan 3.
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.
MTHFR polymorphism testing is frequently ordered by physicians as part of the clinical evaluation for thrombophilia. It was previously hypothesized that reduced enzyme activity of MTHFR led to mild hyperhomocysteinemia which led to an increased risk for venous thromboembolism, coronary heart disease, and recurrent pregnancy loss. Recent meta-analyses have disproven an association between hyperhomocysteinemia and risk for coronary heart disease and between MTHFR polymorphism status and risk for venous t-hromboembolism. There is growing evidence that MTHFR polymorphism testing has minimal clinical utility and, therefore should not be ordered as a part of a routine evaluation for thrombophilia.
- [PubMed - indexed for MEDLINE]
National Guideline Clearinghouse | ACMG practice guideline: lack of evidence for <em>MTHFR</em> polymorphism testing.
American College of Medical Genetics and Genomics
February 24, 2014
ACMG practice guideline: lack of evidence for MTHFR polymorphism testing.
|Hickey SE, Curry CJ, Toriello HV. ACMG practice guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013 Feb;15(2):153-6. [77 references] PubMed|