You’ve read the post about MTHFR basics — or you’ve read about MTHFR somewhere else — and you suspect that you or a family member may have MTHFR mutations. Now what?
The best next step is to test. There are two fundamental things to know before we move onto details. 1) Genetic testing will tell you whether or not you have the gene mutations, but not whether they’re actively causing you problems. 2) MTHFR is not the only enzyme — and, thus, gene — relevant to the methylation cycle, and how these genes interact can play a role in your health.
Testing for MTHFR Mutations
At its most basic, testing for MTFHR mutations is pretty straightforward. You’ll need a DNA sample, and a lab will analyze it to see what genes you have. There are a few different options for going about this.
A medical lab can do a blood test. Also, there are some medically-inclined companies that are doing cheek swab tests. These are simpler to do with a baby, and some insurance will cover the blood tests. The downside to these is that they typically only test for the two major MTHFR genes. While that’s good information to have, if MTHFR is causing you issues, you often need additional information about other, related genes in order to address it effectively. (And insurance often doesn’t cover it, making it very costly.) So this is not typically what I would recommend.
What is usually a better option is to have a DNA test done by a company that doesn’t do testing for medical reasons. (Most of these test primarily for genealogical purposes.) These companies test a broad range of genetic markers, or what are technically known as SNPs (single nucleotide polymorphisms — pronounced “snips”), although we commonly refer to them as “genes.” The company’s reports won’t be very useful for this purpose, but you will be able to download your “raw data” when the test is complete — a zip file containing a text file that lists the thousands of SNPs examined and indicates which variants you have. This can then be imported to sites that will “read” the methylation-related SNPs for you and tell you which mutations you have.
23andMe is most commonly recommended because it tests the broadest range of “medically relevant” SNPs of the “big three,” and the resultant raw data is very easy to auto-import into many other sites. That makes it the most versatile. This is a “spit test” — you collect saliva in a tube to fill it to a certain line and send that in to the lab. For most people, this is probably the best option currently available, but there are a couple things you need to know.
- If the test fails (there isn’t enough DNA present in the saliva sample to analyze), they will only repeat it once. If the second sample also fails, you’ll have the option to receive a refund, but you have to agree to never ask to have that individual analyzed in the future.
- The less-expensive option is adequate because you’re not interested in their reports (for this purpose), just the raw data (which is the same regardless of the option you choose).
- There is no official way to test someone not old enough to spit in a tube. Some mothers have worked around this by collecting saliva from little ones with dental sponges. If you opt to try this, you’ll need to order sterile dental sponges and wear gloves during the process to avoid getting your own DNA in the sample. Use the sponge to “sop up” the saliva in the little one’s mouth, and be sure to rub the insides of the cheeks with it to ensure you get DNA in the sample. Still gloved, squeeze the sponge into the tube, and repeat until you have an adequate sample.
Ancestry.com also included MTHFR data last time I checked, as well as some other methylation-related genes, but not quite as many as 23andMe analyzes. However, the data cannot be auto-imported into most of the other sites, and isn’t accepted at all at some. This may be a good option for you, though, if you already have an Ancestry test, are concerned that it might take multiple attempts to get a viable sample, or want to use the information for genealogy, too. (23andMe can be used for genealogy, but it’s not as user-friendly for that as Ancestry.) Ancestry is also a “spit test.” What you need to know about Ancestry:
- Last I checked, Ancestry would continue to retest the same individual as long as you keep sending in new samples, until the test is successful. Obviously, you want to save your time and trouble and their money by getting a good one the first time, if possible! But I do know a few people who have had to try three or four times. I haven’t yet heard of anyone’s never succeeding in getting a viable sample.
- If you use Ancestry data, you’ll probably have to manually input it at a site for methylation analysis. Here’s the easiest way to do that: open the zip file, and open the text file that’s inside it. Using the “find” or “search” feature of your text editor, search for each rs number. (These should be listed at the site where you’re inputting it.) Look for the letter pair on the row and input it at the site. (This should make sense once you’re looking at the file and at the data the site is asking for. You’ll be able to see what matches.)
ftDNA is one of the “big three” DNA testing companies, but is not a viable option for finding out MTHFR status (unfortunately, since they use a cheek swab rather than a saliva collection tube). They strip this information prior to analysis, so it isn’t in the raw data.
Analyzing/Understanding DNA Results
Once you have your test results back (which usually takes around 4-6 weeks), download your raw data from the testing site, and then you’ll want to upload it someplace that will help you read it. There are a lot of different options, but there are a handful I particularly recommend for this because they’ll produce the easiest-to-read reports.
- knowyourgenetics.com — This is Dr. Amy Yasko’s site, and the methylation analysis is free. It’s easy to read, and comes with a PDF that has further information regarding what to do about it — helpful because many doctors aren’t sure. Dr. Yasko’s and Dr. Lynch’s protocols differ a little, and some people don’t like Dr. Yasko’s, but she seems to do more to integrate the other (non-MTHFR) genes. 23andMe data can be automatically imported, or the data can be manually input from any DNA source you have.
- Genetic Genie — Genetic Genie is also a free site, although donations are appreciated to help them cover site costs. The resultant report is similar to Dr. Yasko’s basic report, but it doesn’t include the extra “how to” information. (This might be your preference if you’re easily overwhelmed.) It only accepts 23andMe data.
- Strategene — Strategene is Dr. Ben Lynch’s analysis option. Dr. Ben Lynch is the unofficially-recognized expert on MTHFR. This option costs $45, but it does include additional information, as well as access to the Strategene Facebook group. Only accepts 23andMe data.
- Sterling’s App — Sterling’s App produces a fairly easy-to-read report, but it covers more than just methylation SNPs, so it might be overwhelming for some people, depending on what you’re looking for. The report costs $30 and the site only accepts 23andMe data.
There are other sites, such as Prometheus and LiveWello, that do include MTHFR in their reports. However, these sites are not dedicated to methylation; they are designed to help interpret all known genetic SNPs. This makes them really interesting for exploring but potentially overwhelming and confusing when you have a particular end in mind.
After You Read Your Results
First of all, whatever you find, don’t panic. Remember that your health is about more than just your genes — your environment also plays a (significant) role. If you are experiencing notable health issues, or find a lot of genetic disruptions that have you concerned, you’ll probably want to find a knowledgeable practitioner. A functional medicine specialist (an M.D. specialty) or a functional nutrition specialist (may be an MD, an ND, a chiropractor, a nutritionist, etc.) are likely to be your best bets. You can ask around in MTHFR support groups for recommendations, call around to practitioners in your area and ask them if they’re familiar with MTHFR, and/or check the practitioner list on Dr. Lynch’s site. “Genetic counselors” typically aren’t educated about MTHFR.
There are also some things you can do on your own to minimize the burden placed on your enzyme stores. We’ll talk about those in the next post.