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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.

Author information

1
Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. Scott.Hickey@nationwidechildrens.org

Abstract

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.

PMID:
23288205
DOI:
10.1038/gim.2012.165
[Indexed for MEDLINE]

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