So, you’ve heard about MTHFR variants. How? A friend? A magazine? A website? Or do you have chronic, unexplained health issues, and you’re wondering if it’s been a methylation problem all along?

As MTHFR experts, we’re willing to admit that, with the number of health problems that have been linked to MTHFR mutations and variants, even a generally healthy person could start thinking, “Geez. Maybe I have an MTHFR issue…” after getting into the reading for a while. Because even generally healthy people at least occasionally experience these:

  • Weakened immune systems
  • Anxiety
  • Difficulty focusing
  •  Eczema
  • Symptoms or diagnosis of Irritable Bowel Syndrome
  • Hormonal imbalances
  • For women–miscarriage

MTHFR variants and mutations DO occur more often than most people realize. The reality is that probably about 60 percent of the population has a genetic variation of the MTHFR enzyme. And while that is a majority, it’s not everyone. And while that majority has a genetic variant, not EVERY MTHFR variant causes significant health issues.

We’re science people. We like truth and facts. No fear-mongering, no telling everyone and his brother that they MUST get tested just in case and that anything less is irresponsible and unhealthy. That’s not how we roll.

But we are ALSO health people who want to give you your best shot at your best life. 

If you’re dealing with any of the following, it may well warrant getting tested for an MTHFR genetic mutation:

  • Multiple miscarriages with no clear explanation
  • Autism
  • Known high levels of homocysteine
  •  You and/or close family members have a history of premature heart disease or blood vessel disorders
  • A close relative has confirmed an MTHFR variant
  • Persistent, debilitating migraines that haven’t responded to treatment
  • You have a child with a neural tube defect like Spina Bifida even though you took folic acid before and during pregnancy.
  • Depression and/or IBS is a significant factor in your life
  • Chronic Fatigue and/or Fibromyalgia symptoms plague you
  • You suffer from heavy metals, chemical sensitivities, and/or an environmental toxic burden that seems to tip you into chronic illness

Why these?

Some of these conditions are strong indicators of reduced methylation, meaning that they often coincide with your body not getting enough of its needed nutrients, even when you generally eat healthily and take care of yourself. Others, like Autism, have been studied and show encouraging results when methylfolate is a part of a wellness plan. Raised homocysteine is often an indicator of reduced methylation, and elevated homocysteine levels can lead to blood clots and heart disease. 

Several of these conditions are simply so painful, whether physically, emotionally, or both, that it’s just worth it to pursue all avenues for healing.

What would it be like to get tested for MTHFR variants?

There are a couple of ways to do it, and several resources that offer the testing.

1. A cheek swab DNA test.

You can actually order kits to use at home, which you then send off to be analyzed. You used to be able to get the DNA testing from AncestryDNA and 23andme and pair it with a product called Strategene, which would analyze your results in relation to MTHFR. However, more recently they’ve removed the MTHFR SNP (single nucleotide polymorphism) marker, so you need to be sure and ask whatever saliva or cheek swab test kit you get to ensure they can give you results for the MTHFR gene test. Many of these kits are not covered by insurance, but on the other hand, are not typically hugely expensive either ($100-$300).

2. A blood test. 

No special preparations, no special tools. You can work with your physician to schedule a blood draw just like you’ve gotten at your annual physical (hopefully). A nurse or phlebotomist takes a blood sample from a vein in your arm, using a small needle, storing it in a vial and either analyzing it in house or (more likely) sending it to a lab. There is no special risk involved–just the typical sting and possible bruising/soreness afterward. Often this test will be covered by insurance, however, this test will typically only be for one gene and not the many related genes that might be helpful along it (kits will often provide many relevant genetic SNP results).

Then what happens?

Your results, which you will receive in varying amounts of time depending on the test and lab you use, will show whether you are positive or negative for an MTHFR mutation. If positive, the result will show which of the two mutations you have, and whether you have one or two copies of the mutated gene. Most tests will only provide results for the two most studied SNPs, 677 & 1298, even though there are more than 70 different MTHFR gene SNPs in the body.

The follow-up

If your results were negative, there may be no follow-up required unless you believe your symptoms are totally related to reduced methylation issues and that you may be having problems with some of the typically non-tested-for MTHFR SNPs. If your homocysteine levels are high, this could be an indication and a case in which your health care provider may recommend more tests to get to the root of your challenges.

If the test results are positive for an MTHFR mutation(s), it is likely that you’ll then need to seek counsel from a medical professional who has specific knowledge of MTHFR so that you can plot your course of action. Until then, check out these resources:



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