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Do you really need to do an MTHFR test? Do you really need to follow the nutritional styles recommended for people with certain MTHFR mutations, purchasing expensive supplements — perhaps even without being tested? A lot of people seem to think so.

Before you head over to 23 and me or any of the other numerous labs offering MTHFR testing, just realize that experts agree that the clinical benefits of MTHFR testing for anyone and everyone haven't been proven.

You need benefit from an MTHFR test IF:

  • You have an immediate relative who has an MTHFR mutation.
  • You suffer from infertility or have had repeated miscarriages.
  • You have had a child with a neural tube defect.
  • You have had a stroke or preeclampsia and your homocysteine levels are high.

 

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Yes! Thank you!

Talk about MTHFR mutations seems to be literally everywhere these days, at least if you like to read health news and participate on discussions about health on the internet... or if you just have Facebook, for that matter. If I were to tell you about every time I've read someone ask for help in implementing MTHFR diets and supplements, and it all seems to make a lot of sense until they add the obligatory "note that I've not been tested yet", I go.. aaaargh. So what you say could include that as well. Don't be convinced you have an MTHFR mutation if you 1. don't have any of the (supposed) symptoms and 2. have never been tested. 

Really.

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Hi,

I suffer from chronic fatigue syndrome and I am confused. I have had people tell me that an MTHFR test is necessary to assess methylation, which can be related to CFS, even on forums specifically meant for people with CFS. Then, others say there is no evidence that this is related at all. 

BUT if I have an MTHFR mutation, then it might be related, no? CFS is hard to deal with on a daily basis and I am at the stage where I think, if it might help, why not try? It is not THAT expensive in the grand scheme of things, the testing for MTHFR, and there is a slight chance that I will get the answer I've been looking for, quite unsuccessfully. It seems worth it. Even though I am not convinced either.

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I completely understand you — dealing with chronic illness is the pits. Any time anyone tells you about something that might just help, you at least consider it. (A whole industry springs up around exactly that fact, of course, for each and every chronic illness. These people take advantage of people such as yourself by offering "alternative medicine" that has never been proven to work.)

An MTHFR test will not do you any harm, except incurring cost, which you will because there is no proven link between MTHFR mutations and Chronic Fatigue Syndrome and so no insurance policy will cover that. My advice to you, however, is to do whatever you do in consultation with your regular doctor and do not get sucked into the depths of quackery.
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Another thing to consider is this. MTHFR mutations are real, and though they're not the cause of every single health condition under the sun, they can indeed have a very serious impact on health in some people. This does not necessarily mean you need an MTHFR gene test, on the other hand. You can also simply get tested for homocysteine and folate levels, and if the former are high and the latter low, then you may benefit from MTHFR testing, or you can assume you have a gene mutation and discuss what to do now with your doctor. There is no need for everyone to start ordering expensive tests for no reason.

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Well, that's one way of looking at things, but I'd say it's quite a conservative way, wouldn't you agree? You've got to know that people actually used X-ray machines to measure their shoe sizes once upon a time. People actually thought Coca Cola could cure cough and cigarettes were good for asthma. No kidding, as odd as that sounds to us today. Oh, and heterosexual people can get HIV, too. All things we didn't know once upon a time! So it's not that weird, in the grand scheme of things, to entertain the thought that maybe MTHFR mutations are responsible for a lot more than science has officially proven so far, and that a few forward-thinking people are already on the right track, is it? And if you have a chronic health condition and MTHFR might be to blame, you want answers. Why would you try to dissuade such people from trying to pursue that?

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That is certainly one school of thought, yes, and it isn't completely wrong. Problems emerge where a whole industry springs up to exploit exactly those thoughts, run by people who authoritatively present themselves as having all the answers. Except they don't, they just say so.

Such people are, essentially, preying on people when they are at their most vulnerable. When modern medicine doesn't offer you the answers you so need, they say they do. But they don't. They may even believe what they say, but that doesn't mean pseudoscience has a place in the modern world. Experimental medicine? Yes! But quackery is another story.

I can come up with examples just as well as you do. Cancer, autism, and Lyme disease all have whole industries around them, and those are just a few examples. Exploiting ill people just isn't good manners.
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I'm not an expert, but I believe in common sense. My thought process for determining whether I needed an MTHFR test would go something like this:

  • Do I have debilitating symptoms or conditions that really mess with my quality of life? If so, I want to feel better.
  • Are people suggesting that MTHFR could have something to do with that? If so, I want to find out everything about that, of course from as liable sources as possible.
  • Does MTHFR testing seem like a sane idea based on everything I've read? Are there mainstream doctors or other experts who would agree with that? If so, I'd ask my doctor about it. If my doctor doesn't agree but reputable sources and voices in the medical field do, then I'd push my doctor or find another doctor.
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