Testing for MTHFR and Methylation Defects

You can test for this individual gene mutation, but I would suggest going ahead and getting genetic testing at 23andme.com because if you do have it (almost half the population has at least one mutation) it is recommended that you do further genetic testing. At 23andme the whole genetic panel is $99 plus shipping (around $10?). Once you get 23andme testing results, you can do a quick intrepretation at geneticgenie.org. Or, you can contact MTHFR Support and they can give you an indepth interpretation for around $50. I think now it might even be $20. I did that and I feel that it was helpful. They also help you understand how to use the 23andme website.

If you don't want to do 23andme...

There are 50+ types of MTHFR mutations, but the two types commonly tested for are C677T and A1298C. So, remember that if you are tested and results are negative but you still display symptoms, get tested further! There other defects you can have on the methylation pathway to cause problems.

Health Insurance does not always pay for this testing. GET TESTED ANYWAY, especially if you are being treated for anything on or related to the list of conditions it causes. The cost you will spend for testing and treatment could be lower than what you are paying for the condition that MTHFR is causing. Not only that but if you have MTHFR you are being affected in many different ways, so taking the supplements will help with other issues you may not even be aware of yet.

Some doctors don't know what to test for. Here are the testing codes/info for Quest Diagnostics and LabCorp:

Quest Diagnositcs MTHFR testing code/info

LabCorp MTHFR testing code/info

You can find testing info for other labs by searching for MTHFR DNA test.

Who should be screened for MTHFR? Check this list out from Dr. Ben Lynch's website.

What if I don't have health insurance? Paying out of pocket should cost no more than $200 for the actual test (doctors fee not included). I paid $56 plus the visit copay. My insurance did not pay for the test, but my doctor has very reasonable rates for testing.  You can be tested without see a doctor. I am finding that it is less expensive to order the test independent of a doctor than to find a NEW doctor who will test for MTHFR. If you currently have a doctor who will test for MTHFR consider yourself blessed! Without insurance, considering the cost of the initial new patient visit, the MTHFR test itself, and the followup appointment you will be paying more to do the test through a doctor than you would if you did it independently. THEN, if you DO have it, you will need to find an MTHFR specialist so you will be changing doctors again anyway.

If you don't have insurance, and have a lot of health problems, I would go straight to more indepth testing at www.23andMe.com, which gives you more info for only $100 more. The MTHFR genetic test is around $200 anyways, why not go ahead and pay the extra $100 to get the extra info you will need to be treated correctly. Plus, you get to find out how much Neanderthal you have in you. Who wouldn't want to know that?! I have not done this testing yet, but am considering it. However even with just taking the basic supplements I feel better.

What if I can't find a doctor who knows about MTHFR and will test me? Make sure you ask your doctor first if they test for MTHFR if you're making a special trip because they may not know enough about it to test for it. I have heard of this happening. If you want to get tested independently of a doctor check out Dr. Ben Lynch's site about testing. There are other ways, other companies, and as I have time I will add more. I have found that the more diet and preventative health related a doctor is (holistic, intergrative for example), the more chance they will test for MTHFR. If your doc doesn't, do some research and take in to them. They need to be educated! They should be open enough to test you. If not, it might be time to find another doc.

There are doctors that will do phone consultations if there is not one in your area. Dr. Tim Jackson in Charlotte, NC is one. Dr. Lynch did but is no longer taking new patients.

Dr. Bruce Lantelme at Robinhood Integrative Health is the doctor who diagnosed me. He is MTHFR friendly. As of 10/8/12 he is no longer taking new patients.

I was able to find one other place here in Winston-Salem that said they would test for it but I don't know the details. It the Naturopathic Health Clinic on Reynolda Road. www.naturopathichealthclinic.com

I have heard the MTHFR expert in Chattanooga is Dr. Terry W. Smith. ** See my blog post from 4/19/13.**

I personally think testing for me was important. I knew something was wrong and was very relieved to find out my results. I finally had something to focus on and fight against. For those of you who are functioning well enough but think you might have it, taking supplements without being tested might work for you because if you are functioning well enough you probably don't need a large dose. I, on the other hand am taking 125 times the recommended daily intake for folate. I would have never taken the amount I am currently on unless a doctor had ordered it. I was clearly suffering from the effects of MTHFR.

If I had simply guessed that I had it and taken an even moderate amount of methylfolate I would not have known that I had MTHFR and that I would benefit from a large dose because I most likely would not have felt enough difference.

In addition to genetic testing to tell what a person is PRONE to, there's other testing to be done to tell what is really going on in the body.