Lack of Evidence for MTHFR Polymorphism Testing

Authoring Organization

Publication Month/Year

February 1, 2013

Last Updated Month/Year

January 9, 2024

Document Type


External Publication Status


Country of Publication


Inclusion Criteria

Female, Male, Adult, Older adult

Health Care Settings

Ambulatory, Outpatient

Intended Users

Medical techologist technician, genetics, nurse, nurse practitioner, physician, physician assistant


Assessment and screening, Diagnosis, Management, Treatment

Diseases/Conditions (MeSH)

D011110 - Polymorphism, Genetic


MTHFR, Polymorphism testing, folic acid, homocysteine, thermolabile variant, polymorphism

Source Citation

Bashford MT, Hickey SE, Curry CJ, Toriello HV; American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee. Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2020 Dec;22(12):2125. doi: 10.1038/s41436-020-0843-0. Epub 2020 Jun 12. Erratum for: Genet Med. 2013 Feb;15(2):153-6. Erratum in: Genet Med. 2020 Jun 26;: PMID: 32533132.

Supplemental Methodology Resources

Methodology Supplement