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ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

Scott E Hickey1, Cynthia J Curry, Helga V Toriello

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

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|January 5, 2013
PubMed
Summary

MTHFR polymorphism testing is often ordered for thrombophilia but lacks clinical utility. Recent evidence disproves links between MTHFR, hyperhomocysteinemia, and major health risks, questioning its routine use.

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