What is the Purpose of the MTHFR Test?

mthfr gene mutation

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The main Purpose of this test is to see if there is a mutation of the MTHFR gene. Everyone has two of these genes but mutations can lead to health problems.

What Mutations does the MTHFR Test Look for?


The test looks specifically for two of the these mutations or variants: C677T and A1298C.

Can MTHFR Mutations be Harmful?


Research attributes these mutations to some unfavorable health issues. The main purpose of the MTHFR gene is to break down a substance called Homocysteine. This amino acid is used to help your body make proteins. If the MTHFR gene functions properly it disposes most of the leftover Homocysteine. However, mutations of the MTHFR gene can leave extra Homocysteine in the blood stream. Additionally, extra Homocysteine left in the blood stream can link to health problems such as, Homocystinuria, heart disease, stroke, high blood pressure, and blood clots.

Additional MTHFR Mutations Risks for Women


Unfortunately, women with MTHFR mutations have a greater chance of having a baby with one of the following birth defects: Spina bifida or Anencephaly. These can be reduced by taking folic acid or B vitamins.

We recommend pregnant women take folic acid supplements because it greatly reduces birth defects.

How do I know when to get Tested?


We recommend you get a test if any of the following are true for you: If you have a blood test that shows higher levels of Homocysteine, If you have a relative that has been diagnosed with an MTHFR mutation, or if you or close family members have a history of premature heart disease or blood vessel disorders.

If you need to test for MTHFR mutations, we offer the MTHFR Test Kit in the Test Kits section of our inventory. Click below to view our test kit


MTHFR Test Kit



MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); [updated 2020 Jun 24]. Noonan syndrome; [updated 2020 Jun 18; reviewed 2018 Jun 01; cited 2020 Jul 1]; [about 5 p.]. Available from: https://medlineplus.gov/genetics/condition/noonan-syndrome/.


Jack Towers

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