MTHFR
Alternate Names
511238 LC, Methylenetetrahydrofolate Reductase Thermolabile Variant, DNA Analysis
SoftLab Order Code
Not orderable
Additional Test Information
Notice
Effective 7/9/2025, the test MTHFR Mutation was made obsolete with no replacement test.
The American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists (ACOG) recommend against testing for MTHFR mutations.
Inherited thrombophilias in pregnancy. ACOG Practice Bulletin No. 197. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2018;132:e18-34.
Hickey SE, Curry CJ, Toriello HV. ACMG practice guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013 Feb;15(2):153-6.
Baglin T, Gray E, Greaves M, et al. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol. 2010;149:209-220.