How to Test for MTHFR Mutations and What to Do if You Have Them

June 12th, 2019

In my Part I of MTHFR mutations, I discussed what they are, why they matter, and how they’re connected to autoimmune disease, Hashimoto’s, Graves’, and thyroid dysfunction.

In this article, we’ll be diving right into how to test for MTHFR mutations and most importantly, what you can do to help to minimize the impact of any MTHFR mutations on your health.

My motto is knowledge is power, and understanding your MTHFR status can be an empowering tool to take back your health!

How To Test for MTHFR Mutations?

I strongly recommend that everyone gets tested for MTHFR mutations, especially if you are a woman of childbearing age, as MTHFR has been found to increase the risk of miscarriage and birth defects, including Spina Bifida. If you have a history of Hashimoto’s, Graves’ or any other autoimmune disease, it is equally as important to be tested as MTHFR contributes to those conditions as well.

Additionally, I encourage those who have newborns or young children to have them tested for MTHFR mutations. Determining which vaccines your child receives and when they receive them is a personal choice. Knowing your child’s MTHFR status, and what impact the vaccines might have on their health, is an important part of the decision. As a mother, testing Elle for MTHFR was high on my priority list.

This theoretical illustration of how MTHFR mutations affect your ability to detoxify demonstrates why it is so important for you to know your MTHFR status.

Lab testing to check for MTHFR mutations used to be costly, and required a prescription and a blood sample. However, genetic testing is now much more affordable, accessible, and convenient.

You may have heard of the test from 23andMe which can be ordered online. Many of the patients from my clinic tested their MTHFR status using 23andMe’s service. 23andMe is one option that does not require a physician’s prescription, and it tests for hundreds of SNPs.

Unfortunately, 23andMe results come in a raw data format, so you have to input your results into another tool or service, such as MTHFR Support to get a readout of your MTHFR status, and the other SNPs they test for, that is easy to understand.

I recently discovered a new company called dnalife® that offers genetic SNP testing with just a mouth swab instead of saliva samples (which is much easier for babies—it’s what I used for Elle). The test checks for fewer SNPs than 23andme yet delivers all of the data in a format that you or your doctor can easily interpret. For this option, you would typically need a functional medicine physician to order it for you.

As a favor to me, dnalife® agreed to let you order your own MTHFR test here without a doctor’s order. If you want additional SNPs, you will need to ask your functional medicine doctor to order that for you.

You, of course, can always ask your primary care physician to order an MTHFR blood test for you. Although, I have found that most insurance companies do not cover this and you could be left with an $800-$1,000 bill.

A less expensive option that is typically covered by insurance is to have your doctor run a homocysteine level for you. This option is less definitive, so you may not get the comprehensive results you are looking for.

Homocysteine Levels

As I mentioned earlier, the methylation process converts homocysteine into methionine. If you have one or more MTHFR mutations and your ability to methylate is reduced, your body won’t be able to convert as much of it, and you will typically have high levels of homocysteine in your blood. High homocysteine typically means undermethylation, and low homocysteine can indicate either over or undermethylation.

High homocysteine levels can negatively impact mental health and mood. It has also been linked to cardiovascular disease, high blood pressure, an inability to detoxify—especially heavy metals, and blood vessel damage.

An optimal homocysteine level is 6-9 umol/L. If someone’s homocysteine level is elevated above 10 umol/L, there is one mutation. If it is as high as 18 umol/L, there are likely two mutations. On the flip side of that, too low of a homocysteine level such as 2 or 4 umol/L can indicate that you are not methylating or you are over methylating, which can be just as problematic.


How to Overcome MTHFR Mutations

OK, so you’ve discovered you have one or more MTHFR mutations, and you might be feeling as though your genes control your destiny. I get it, trust me, I do. I have two mutations at C677T, and my ability to methylate based on my genes was cut down to 10%. It’s likely one of the reasons I developed Graves’disease. The truth is that by following the same simple steps that I have used, you too will be able to work around your genes and get your body methylating in an optimal range.

1. Supplement with Pre-Methylated B Vitamins

MTHFR mutations reduce your ability to methylate, so one of the best things you can do is to supplement with the three main vitamins needed for methylation. Folate in its pre-methylated form (5MTHF), B6 in its active form, and B12 in its active form.

I take a supplement called Methylation Support™ every day. It contains all three of those essential B vitamins. I recommended this supplement to all of my patients with MTHFR mutations. These pre-methylated and active forms of the B vitamins are absorbed optimally, and work to increase folate levels and decrease homocysteine levels.

If you have one or more MTHFR mutations I recommend supplementing with Methylation Support™ daily.

If you have been prescribed methotrexate as part of your treatment for autoimmunity, I strongly recommend supplementing with Methylation Support™ because methotrexate blocks folate pathways. If you have two mutations, even with a supplement to support methylation, you may want to consider a different medication. Or check out my 6-week Autoimmune Solution Program to address the underlying causes of your condition, so you can come off of these harsh medications altogether.

2. Avoid Folic Acid (Synthetic B Vitamins)

As a reminder, simply increasing your folic acid will not help with methylation issues because your body is not able to convert it. In fact, taking folic acid, which is synthetic and can be found in fortified and processed foods, can be harmful because it stays in your body unconverted. The unconverted folic acid attaches itself to the same receptors used to absorb folate, and ‘clogs them up’ so to speak.

3. Eat Foods Rich in B Vitamins

I also recommend getting plenty of B vitamins naturally through your diet. The highest folate-rich foods include asparagus, romaine lettuce, broccoli, avocado, and dark, leafy greens such as spinach, kale, and Swiss chard. Foods high in B6 include poultry, seafood, bananas, and leafy green vegetables. You can add more vitamin B12 to your diet with fish, poultry, and meat.

However, if you have two mutations like me, diet alone may not get you enough B vitamins to methylate optimally, and you may want to consider supplementing with Methylation Support™.

4. Reduce Your Toxic Burden

Because MTHFR mutations reduce your ability to detoxify, particularly heavy metals, you want to minimize your exposure to toxins. Here are steps you can take to limit your exposure to heavy metals:

  • Filter your air – Mercury can be found in the air near coal-burning plants. To avoid breathing it in, I recommend using a HEPA filter in your home and office.
  • Filter your water -Due to pollution and runoff, mercury can be found in our water supply. To protect your water I recommend installing water filters on all of your taps and even showerheads because chemicals can be absorbed through the skin too!
  • Remove amalgam fillings safely – Amalgam fillings contain mercury and emit a mercury vapor that can leach into your bloodstream. For more information on the risks of amalgam fillings and how to remove them safely, check out my podcast episode with biological dentist, Stuart Nunnally.
  • Choose fish that are not high in mercury – The Environmental Defense Fund has a list of fish that are typically high in mercury and should be avoided, as well as those that are low in mercury and are preferred.

You can learn more about reducing your toxic burden in this post, and in my books, The Autoimmune Solution and The Thyroid Connection.

5. Flush Out Toxins Safely

In addition to preventing toxins from coming into your body, you also want to focus on supporting your detox pathways to flush toxins out safely.

  • Eat cruciferous vegetables – These vegetables, including arugula, broccoli, Brussel sprouts, cauliflower, and collard greens, are rich in antioxidants and support safe detoxification.
  • Excrete the toxins – You’ll want to drink plenty of water, optimize your digestion, and add in activities that help you sweat, such as exercise or using an infrared sauna.
  • Add in Glutathione – This is your body’s most important detoxifier, and it plays a big role in reducing your risk for developing an autoimmune disease. Your ability to produce glutathione is diminished if you are not methylating properly. I take this every day and recommended it to all of my patients with autoimmunity and MTHFR mutations.
  • Take a Liver Support Supplement – The one I offer contains N-acetyl, L-cysteine, alpha-lipoic acid, milk thistle, and selenium to support antioxidant activity and promote a healthy immune system. In addition, it helps support your body’s glutathione production.
  • Increase Your Magnesium – Magnesium supports the detoxification process through its major role in the production of energy as ATP, providing cells with what they require to pump out toxins before, during, and after they accumulate.
  • Don’t forget the Methylation Support™ – As I mentioned above, you want to be sure you’re taking a methylation support supplement. This and glutathione are the two absolute go-to supplements that I take daily no matter what.

Remember knowledge is power, so knowing your MTHFR status and understanding what it means and what you can do about it is a huge first step in taking control of your health! You may have been dealt a certain genetic hand, just remember that you have unlimited choices in how you play that hand.

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