The MTHFR Test

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What is the MTHFR test?

The MTHFR test or Methylenetetrahydrofolate Reductase test has become extremely popular due its potential to uncover some very important health risk factors as well as mysterious symptoms that you may have been struggling with for years.

This test is basically looking for two types of genetic mutations known as C677T and A1298C that affect the MTHFR enzyme involved in folate metabolism in the body.  Proper MTHFR enzyme function ensures that homocysteine (toxic metabolite) is properly metabolized to the amino acid methionine which then makes SAMe. SAMe is known as the “universal methyl donor” which is extremely important for serotonin, melatonin and your DNA!

Folate is a B-vitamin and is important because it is at the heart of metabolism and the production of all your cells. Without it, nothing really works well so our list of symptoms and health problems would look pretty crazy.

How common is it?

Approximately 5-14% of the US population has two copies of the MTHFR mutation.  It is the most common in those of Mediterranean descent and lowest in those of African ancestry.

Why is homocysteine a problem?


Although controversial in it’s connection with cardiovascular disease, elevated homocysteine levels may damage blood vessel walls leading to plaque (atherosclerosis) development and thus the potential for a heart attack, stroke or blood clot.  Homocysteine requires healthy levels of folate, vitamin B12 and vitamin B6 to be metabolized properly.  Recent data however shows that supplementation with these vitamins to lower homocysteine levels does not produce any benefit regarding cardiovascular risk reduction.

Why should you get the MTHFR test?

If you suffer from any of the following symptoms or if there is a family history of any of these health concerns, it may be worth doing the MTHFR test:

  • Depression
  • Insomnia
  • Family history of dementia
  • Alcoholism
  • Long-term use of birth control pills
  • Pregnant women or women wishing to become pregnant
  • Women with abnormal pap smears that are precancerous
  • Patients on dialysis
  • Long-term us of NSAIDS such as aspirin or ibuprofen
  • Personal or family history of heart disease or blood clots
  • Spina bifida
  • Preeclampsia (high blood pressure during pregnancy)

What do my MTHFR test results mean?

The MTHFR test will tell you if you have two copies of the C677T variant, or one copy of the C677T and one copy of the A1298C then your MTHFR enzyme activity may be compromised.  Not everyone who has these gene mutations will develop elevated homocysteine levels or health problems that are related to an abnormal MTFHR test.

What is the best form of folate?

Folic acid is actually a synthetic compound that does not occur in nature compared to folate which is found in nature and your body.  Some people have difficulty metabolizing folic acid to it’s natural form in the body which results in a build-up of folic acid.  This can be a problem because excessive folic acid levels have been linked to increased risk of cancer.  Folic acid is found in most commercial vitamin supplements and fortified food products.  You should only take supplements that use the natural form of folate or if you have the MTHFR defect then L-5-MTHF may be best for you.  The advantage of the L-5-MTHF form of folate is that it is already activated so it is ready to go whether you have the MTHFR defect or not.

How much should you take?

If you are using a high-quality supplement company then all of their products will use either natural forms of folate or the L-5-MTHF form of folate.  Most products that are specific for the MTHFR mutation have either 1,000mcg or 5,000mcg of L-5-MTHF per capsule.  Consult with your doctor about how much you should take or if you need it at all.

How can you get the MTHFR test?

The MTHFR test is readily available through commercial labs such as Labcorp.  Your doctor can order this test for you however it is considered experimental at this time in it’s usefullness so it may or may not be covered.  We have negotiated a significant cash discount price for all of our patients to get tested if needed.  Once you get tested, you never have to test again because your genes do not change.  You can also get all of your genetics tested through 23 And Me and then sync your raw genetic data with Live Wello.

Personally, I have two mutations and I do feel an improvement in my mood when I take L-5-MTHF most likely due to the increase in serotonin levels.  Many of my patients report feeling better when taking L-5-MTHF when we find they have this mutation.  Although experimental, I do recommend this test because the more you know about your body, the closer you get to feeling really, really good.

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by - Erica