MTHFR Test: Genetics Societies Say It Rarely Changes Care
Home MTHFR kits check two common gene variants from a cheek swab. The American College of Medical Genetics found the test has minimal clinical use and advises against ordering it routinely. A folate, B12 or homocysteine blood test answers the question people usually have.
By Kymata Health Editorial Published Last checked
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This guide
At-Home Health Tests- Question
- Is an MTHFR test worth it?
- Sources
- 5 cited
- Quick answers
- 3 questions
- Clinician review
- None; sources cited inline
Key takeaways
4 points- The American College of Medical Genetics and Genomics says MTHFR variant testing has minimal clinical utility and should not be ordered as part of a routine work-up for blood clots1; a 2020 addendum updated the guideline2.
- Meta-analyses cited by that guideline found no link between MTHFR variant status and venous blood clots1.
- Cleveland Clinic notes many people carry a variant, most guidelines advise against testing, and a homocysteine level is the more useful blood test when there is a reason to check3.
- A home MTHFR kit costs $129 and reads the 677 and 1298 variants from a mouth swab4; we do not link it. A vitamin B12 and folate blood test ($89 at the same company) measures levels you can act on5.
What an MTHFR test reads
MTHFR is a gene for an enzyme in folate metabolism. Home kits look for two common variants, C677T and A1298C, from a cheek swab; the empowerDX kit costs $129 and returns results in 5 to 7 business days after the lab receives it4. Many people carry one or two variant copies, and most have no health effect from them3.
What genetics guidelines say
The American College of Medical Genetics and Genomics reviewed the evidence in 2013. Earlier theories held that the variants raised homocysteine and with it the risk of blood clots, heart disease and recurrent pregnancy loss. Meta-analyses since then found no association between MTHFR status and venous blood clots, and none between mildly raised homocysteine and coronary heart disease. The college concluded the test has minimal clinical utility and should not be ordered as part of a routine evaluation for clotting disorders1. It published an addendum to the guideline in 20202.
Cleveland Clinic's 2026 patient page agrees: most guidelines recommend against the test because results do not change care, and if there is a reason to look, such as a family history of early clots or stroke, a clinician may check homocysteine instead3.
Pregnancy and folate
Folic acid before and during pregnancy is advised whether or not someone carries an MTHFR variant, and Cleveland Clinic says special forms of folate are not needed3. For more, see prenatal vitamins: folate, choline, DHA and iodine and methylfolate vs folic acid.
A more useful test
Where to buy
empowerDX Vitamin B12 + Folate Test
Paid links · we earn a commissionMeasures the vitamin levels an MTHFR result only guesses at: an at-home finger-prick blood test, $89 on empowerDX's site (checked Oct 30, 2026). Stop biotin supplements for 3 days before collecting, per the kit instructions.
See the B12 + folate test (paid link, opens in new tab)
Quick answers
Questions
3 answersShould I get tested for MTHFR?
The American College of Medical Genetics advises against routine MTHFR testing because it has minimal clinical utility1.
Does an MTHFR variant cause blood clots?
Meta-analyses cited by the genetics guideline found no association between MTHFR status and venous blood clots1.
Do I need methylfolate if I have an MTHFR variant?
Cleveland Clinic says special types of folate are not needed, including in pregnancy3.
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References
Every study and document cited in this guide, numbered as in the text.
Sources
5 sources- 1ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genetics in Medicine, 2013. PMID 23288205
- 2Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genetics in Medicine, 2020. PMID 32533132
- 3MTHFR Gene Variant. Cleveland Clinic, 2026.
- 4MTHFR Gene Test For Methylation (product page). empowerDX, 2026.
- 5Vitamin B12 + Folate Test (product page). empowerDX, 2026.
Dietary supplements are not intended to diagnose, treat, cure or prevent any disease, and these statements have not been evaluated by the FDA. Prescription options need a licensed clinician. Talk to your clinician or pharmacist before starting anything new, especially if you take prescription medicines, are pregnant or breastfeeding.