Is Genetic Testing Necessary if You Suspect MTHFR Mutation?

The quick answer is no. You probably don’t need genetic testing for MTHFR even if you suspect there’s a problem, but you still might want it.  If that isn’t enough information, then read on!

Why Genetic Testing for  MTHFR Might Not Be Necessary

  1. For many people with the MTHFR mutation, there is a simpler, more medically recognized, cheaper test called homocysteine.  For the majority of MTHFR folk homocysteine levels become elevated because of the lack of usable folate. This test is cheap and you won’t have any trouble talking your doctor into ordering it.  Bonus!
  2. Dr. Charis Eng, a prominent geneticist at the Cleveland Clinic makes a great argument that really, if you suspect a mutation, you can just take the methyl-folate and appropriate B vitamins and you’re done.  No harm, no foul. In short you don’t need genetic testing because you can just go ahead and take the vitamins. Good point Dr. Eng!
  3. Even with a complete genetic profile run through every methylation panel out there, finding the right dose of methylfolate for you is still a lot of educated guessing and trial and error. Testing might give you guidelines, but you really still have to start slowly and work your way up.

    Kind of awesome picture of human chromosomes. Genetic Testing for MTHFR doesn't look this cool, but still.

    Kind of awesome picture of human chromosomes. Genetic Testing for MTHFR doesn’t look this cool, but still. Image by Andreas Bolzer, Gregor Kreth, Irina Solovei, Daniela Koehler, Kaan Saracoglu, Christine Fauth, Stefan Müller, Roland Eils, Christoph Cremer, Michael R. Speicher, Thomas Cremer – Bolzer et al., (2005) Three-Dimensional Maps of All Chromosomes in Human Male Fibroblast Nuclei and Prometaphase Rosettes. PLoS Biol 3(5): e157 DOI: 10.1371/journal.pbio.0030157, Figure 7a, CC BY 2.5, https://commons.wikimedia.org/w/index.php?curid=1371900




Are There Reasons Why I Should Do Genetic Testing for MTHFR?

There are certainly some compelling reasons to get the testing done, not the least of which is your kiddos.

  1. With genetic testing, especially the complete information gathered from 23andme, you have a better idea of not only your MTHFR status but also about all of the other genes that play into the methylation and detoxification process.  It helps us understand all of the ways you might be compromised and so gives a more solid starting place. (If your doctor runs the MTHFR test then really you’ll only have info about MTHFR, not about any of the related genes).
  2.  You know right away how compromised you are (check out these handy graphics if you can’t remember) and generally the more bad copies of the genes you have the slower you want to go with supplements and detox.
  3. If you have kids or are thinking about having kids it really helps to know what their chances are of picking up bad copies of these genes from you.   If you know there might be an issue then you can start helping them find balance while they’re young (or even before they’re born).

What are the Options for Genetic Testing for MTHFR from my MD?

MDs have started ordering testing – especially if you have some strange blood coagulation issues, if you’ve had repeat miscarriages, or if you pester the hell out of them. Insurance will only cover testing if it’s “medically necessary” – and typically that is only if there are weird blood clotting issues. Just keep that in mind. There are only a few MTHFR tests that are FDA approved, and none of them are intended for people with anxiety, depression, inflammatory disorders, etc… They still work, but it can be hard to talk your doctor into ordering them. These are all spendy if insurance isn’t paying for them, so ask your doctor before you have them run.

Is there Genetic Testing for MTHFR that You Can Run Yourself?

This is by far my favorite option, simply because you get so much for so little money (relatively speaking).  It’s 23andme. They provide you with a saliva test kit that you mail in and in about a month you get a whole heap of information online including info about your ancestry, about your genetic response to certain pharmaceutical drugs, and about different health risk factors. At the time of this article it’s $199 US or $249 Canadian. Typically this is cheaper than the FDA approved testing and there’s far more information. Embedded in all of this information is your MTHFR status, although it’s hard to find unless you run your results through some kind of interpretation engine.

In terms of interpretation for MTHFR there are a couple that I like.  The one I suggest most often is called “genetic genie” and they have a methylation panel (that uses the raw data from 23andme) and a detox panel (again with the 23andme). The reports are very complete and they ask for a modest donation.  Freaking awesome.

Another good option are the reports from MTHFR support.  This report shows more gene snips than the genetic genie report, but gives less information about each one.  It also costs a little more (but still totally reasonable).  Like genetic genie, MTHFR support doesn’t actually test the genetics – you need 23andme for that – they just interpret the information.

At the end of the day you can get genetic testing for MTHFR if you choose, but you don’t really have to – you can also just go ahead and start to supplement if you suspect an issue. I’m a total geek for information, so of course I got mine done by 23andme (I’m 3% neanderthal, in case you were wondering, because obviously that is information everybody needs).  I’m glad I know, but honestly it really didn’t change too much about the way I approach my dosage of methylfolate.  It’s just better information for me (and for my kiddos).



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