Advanced Technology Laboratory, Molecular Diagnostics

Test Discontinuation: MTHFR C677T

MTHFR C677T [LAB7390], the methylenetetrahydrofolate reductase mutation analysis, is being discontinued as an obsolete test.

The American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists (ACOG) have determined that MTHFR C677T testing has minimal clinical utility. Current testing recommendations indicate that this test should not be ordered as part of a routine evaluation for thrombophilia or adverse pregnancy outcomes.

Supporting references:
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing, ACMG Practice Guideline in Genetics in Medicine February 2013; 15: 153 – 156
ACOG Practice Bulletin No. 197: Inherited Thrombophilias in Pregnancy, ACOG Practice Bulletin No. 197 Summary, Obstetrics & Gynecology July 2018; 132: 249 -251


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