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.
References: