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Molecular Diagnostics : DNA

Additional Info:

Discontinuation of Testing

Practice guidelines from the American College of Medical Genetics (ACMG)1 and the American College of Obstetricians and Gynecologists 2 state that MTHFR polymorphism genotyping should not be ordered for thrombophilia screening, recurrent pregnancy loss, or testing of family members of individuals with identified MTHFR variants. MTHFR genetic testing is also discouraged by Choosing Wisely recommendations from the Society for Maternal Fetal Medicine 3 and ACMG 4. There is no conclusive evidence supporting the clinical value of MTHFR genetic testing. No alternative tests are recommended.


  1. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genetics in Medicine 2013;15:153-156
  2. ACOG Practice Bulletin Summary Obstetrics and Gynecology 2018;132:249-251
  3. MTHFR mutations | Choosing Wisely
  4. MTHFR genetic testing for hereditary thrombophilia | Choosing Wisely
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