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Get Tested for MTHFR

To test or not to test for MTHFR? That is an important question that many are asking these days! And I think there are 3 good options available to you if you want to get tested and find out what your specific MTHFR mutation status actually is. We’ll discuss each below, including pros and cons.

  1. A genetic blood test your doctor can order
  2. Holistic Heal’s DNA Panel for the Methylation Pathway (Dr. Amy Yasko’s finger prick test)
  3. 23andme’s Comprehensive DNA Panel (a self-administered saliva/spit test)

Two of these options are much more useful than the cheapest approach. Of course, some doctors simply say that because so much of the population is prone to having an MTHFR defect, it’s not so important that you know exactly what your status is and therefore no test is really needed. You might have just as much success experimenting with some of the supplements that help work around the MTHFR mutation(s) without needing to know your specific mutation details.

While not needing a test may be true for MTHFR, Methyl-Life’s founder, Jamie Horn, thinks it’s incredibly valuable to know what’s in your body and what genetics you have. As this industry grows, so should the knowledge about how to manage some of these specific defects in future. If you don’t know what your mutations are, you can’t properly address them in a proactive way. We would highly recommend that folks get their genetics results, even if they don’t do anything important or immediate with that information. Just having one’s own personal genetic results should be a basic right. We would hate to see any agency, government, pharmaceutical company or otherwise prevent you from getting that information in future (we have already seen the FDA drastically reduce what some grassroots organizations can report for you). At Methyl-Life, we make specific nutritional decisions based on what we have learned about our personal genetics and this has significantly helped with our quality of life thus far. So we highly recommend getting a full test results panel.

A genetic test your doctor can order

      If you want an MTHFR mutation test, the most affordable approach is to have your doctor run the test for just the 677 & 1298 MTHFR mutations. Insurance companies are getting much more willing to cover this genetic test as more and more research becomes available specifically about the 677 & 1298 SNPs (single nucleotide polymorphisms). These two MTHFR SNPs are tied to many different studies about cardiovascular disease, miscarriage, depression, neuropathy, dementia and Alzheimer’s, as well as many other specific conditions. Just get on and search for MTHFR and you’ll find a lot of clinical research shows up.
    • The upside: it’s usually free or just the cost of your time, gas and a copay ($10-40).
    • The downside: you only get a very small amount of information for this outlay (MTHFR 677 & 1298 status) – and truthfully, there’s not a lot you can do with this result by itself (in a vacuum, it’s not enough information to build a solid program for health for an individual, since you do not know anything about the genes and enzymatic exchanges that happen before or after it). You won’t know what your status is for any of the other 40+ less-well-known MTHFR SNPs. And you don’t get to know what your status is for any of the other important genetic SNPs along the methylation cycle pathway (i.e. COMT, MTR, MTRR, VDR, CBS, etc. – what happens before and after the MTHFR enzymatic conversions in the body), and you won’t get any information on genetic SNPs affecting other biopathways in your body (there are literally millions).

Holistic Heal’s DNA Panel for the Methylation Pathway

      Another approach might be that you contact Holistic Heal (Dr. Amy Yasko’s organization) and have her company run a full panel methylation test for you (you pay for a kit that gets sent to you and then you do the test at home, it consists of doing a finger prick which requires you to smear some blood into 3 small circles). Dr. Yasko’s test focuses specifically on 30 key gene SNPs that are on the methylation pathway. And these are genes that work together in the more complicated cases for those who have things like Autism and Chronic Fatigue (which are thought to have multiple sources of origination, i.e. genetic factors complicated by environmental factors). Dr. Yasko’s test is more comprehensive and she has a keen understanding of the genes she tests for and how they work together in the body (she is one of the first to pioneer such an in-depth knowledge of genetics and also apply specific nutrition/enzymes to that knowledge which can positively affect change in conditions as complicated as Autism and Chronic Fatigue). Her site has an in-depth forum which provides support and information for dosing with her tailored products based on the specific genetic results you get. Below you can find a simple document indicating Dr. Yasko’s suggested tips for treating the methylation cycle (though it’s much more valuable once you’ve received your test panel results).
    • The upside: you will get your MTHFR mutation status (677 & 1298 plus an additional MTHFR SNP) along with the most important 27 other SNPs surrounding it within the methylation cycle. You get access to a mature support forum from someone considered the “nutrigenomic grandmother” in the field. If you have Autism or Chronic Fatigue, you might gain some great benefit, since these are Dr. Yasko’s specialties (in terms of nutrigenomic application in practice).
    • The downside: it’s a bit spendy at $500 per test (but remember, it does include the forum support & she has been learning/practicing in this field longer than anyone else I know of).

23andme’s Comprehensive DNA Panel

      Another great option is to get your genetics test done through, which is a wonderful non-profit grassroots organization. You pay $99 and the company sends you a test kit which consists of a vial for saliva collection (you just spit into it), once you fill it, you send it back to them and wait for your results. The main thing you get with 23andme results is a raw data file which provides results for hundreds of thousands of gene SNPs. Once you get that genetic results raw data file from 23andme, you can download it and do whatever you want with it. Since it’s not very readable on its own, the best thing to do with it is to pay a partner company to “transform it” for you. This just means the company has a database which pulls out the genes that are most interesting to them for whatever reason (they’re working with particular doctors who have interest in the genes, they have researched the genes and understand a bit about the impacts in the body, etc.). For somewhere between $20-40 these partner companies will give you a readable report, most typically it shows green for any gene that is considered “normal” or not mutated, yellow for any gene that is considered to be a “single” mutation (one mutation from either the biological mother or father, but not both), and red for any gene that is a “double” mutation (or one mutation from both the biological mother and father). Of course the red is most concerning and the green is usually considered good to see. You can find some of these 23andme data transformation companies below (check them out to see which one(s) provide the service(s) you prefer most).
  • The upside: it’s incredibly affordable and provides you data for a huge number of genes in your body across many different biopathway systems within the body.
  • The downside: if you wait, it’s likely that the FDA will continue to reduce the number of genes that 23andme can test and provide results for (yes, it’s already been done, current versions of the test have far less gene results than earlier versions of the test). There is no authority behind the results being able to give clear experienced guidance for how to manage the results (no one to answer questions like, “What should I do or take if I have a double COMT mutation?”). You have to do a lot of the research on the gene results yourself or find and work with forums who have this information.
  • 23andme Raw Data Transformers (creating a human-readable results report)



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