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How Do You Test For MTHFR Mutation?

How do you test for MTHFR mutation? In this article we will discuss the different ways to do this. There are a few different methodologies to go about testing for MTHFR mutation with different pros and cons to consider for each of them. 

Maybe a more important question is why would you want to test for this to begin with. There may be certain lab values that are off or symptoms that are off.  So we will also discuss some of the things that make me think someone might have MTHFR mutation, in terms of lab values, clinical history and symptoms. 

If this interest you, keep reading we are going to get into the details.


Why Would You Test For MTHFR Mutation?

There are three basic ways that I would categorize testing for MTHFR mutations and all these are valid ways to do it.  I utilize all of them but some may be a little bit more reliable and some may come with some privacy concerns.  Depending on your preferences these may steer you in one direction or another. We will get into that in a second, but first why would you test for MTHFR to begin with?

It's always nice to know more information about your health but there are a few different health circumstances where I will encourage people to test for MTHFR mutation.  When these circumstances are present you should.  Wether or not everyone needs to know their MTHFR status is debatable.  I personally don't think it is necessarily for everyone.  If it is inexpensive and easily accessible for you, then it is probably worthwhile.  If you're having certain health issues then it probably is a good idea. What health issues?

The lab values that make me think there may be an MTHFR problem or MTHFR mutation is unexplained elevated MCV.  MCV refers to Mean Corpuscular Volume .  Since a corpuscle is a red blood cell, it refers to the size of the red blood cell.  It basically tells us about the relative size or volume of the cells.  When that number is always high, the reason could be MTHFR alteration.  Other methylation problem could cause the MCV to be elevated too.  B12 deficiency can also cause elevated MVC. So these two things need to be considered as the driving force for elevated MCV.  Since b12 deficiency is more common, most people treat this first.  It is also possible for someone to have a relative folate deficiency – but that's pretty uncommon in this day and age.  So if it's not b12 most there could be an issue with MTHFR enzyme. 

The other lab value or factor that makes me think about an MTHFR mutation is homocysteine.  Unexplained and consistently elevated homocysteine also suggests the same two factors (B12 deficiency or MTHFR mutation).  So those are two tests to look at and see if this could be a problem for you. They're not absolute but can give you a general idea.   You can have a normal MCV and a normal homocysteine and still have a significant problem with your methylfolate status in your body either from a deficiency or an MTHFR mutation.  This is a less common but it still can happen.dna-3656587_1920

Symptom that that can be present with an MTHFR mutation are numerous, but only a few make me think you might have this genetic alteration.  The most commonly documented is mental health issues like anxiety and depression.  Specifically when there's a lack of response from conventional antidepressants and conventional treatments.  This is not suggesting that these are the only way to to treat anxiety and depression. There are many other ways. However, when you've been treated with antidepressants and you don't respond, it could be from a lack of this methylfolate.

Methylfolate is needed to produce some of your neurotransmitters to begin with.  When antidepressants are having their effect they may have less of a pool of neurotransmitters to work on.  Therefore, they may produce a reduced response.  So if you are someone that is not responding to antidepressants there's an increased correlation with MTHFR mutation.  Similarly I would put fatigue in that category.  Often times depression can manifest as fatigue.  So depression, anxiety, fatigue and some unexplained neurological symptoms all create more interest in MTHFR mutation. 

Learn More About MTHFR Mutation


How Do You Test For MTHFR Mutation?

So how do you go about testing for MTHFR mutation and other genetic polymorphisms? There are three basic methodologies to approach this.  There is an indirect way, a direct way, and a comprehensive way. The indirect way is where you use the genetic data that was harvested through an ancestral kit like 23andme.com or ancestry.com (these are the two that I know of that will work).  What you have to do is download the raw data from that vendor and then upload it to a third party.  There are a few different third party sites you can use like:

Genetic genie is free (with the option to give a donation), so that is a bonus.  It does tell you about your MTHFR status.  If you are looking for a lot of other SNPs, you may be disappointed. It does give some but it is more limited than MTHFRdoctors.com and MTHFRsupport.com.  These different third party sites will have different SNPs that they check for.   If you have a newer kit from 23andme.com, they only have a few SNPs anyway.  Any kit purchased after early 2018 or late 2017 will have much less genetic health information on it (in terms of SNPs).  Prior to that the kits provide more information about different SNPs.  Currently, they do still provide you with your MTHFR status regardless.   So if you have a later dated one, it makes less sense to pay more for the expanded third party site because they don't have as much anyways.  So that covers the indirect ways to test for MTHFR mutation. 

The above mentioned ways are less accurate than some of the direct methodologies. With the direct testing the lab is specifically looking for this gene alteration. I don't have the specifics on why these are more accurate,  I just know there is some question about the accuracy.  The direct testing can be done through Quest labs or Labcorp and most major laboratory facilities.  These are probably a little bit more expensive than if you just test for MTHFR using a kit like from mthfrdoctors.com (mentioned above). 

Lastly is the direct comprehensive methodology. This offers more expanded types of genetic information.  This testing gives you your MTHFR and a bunch of other genetic information (SNPs). This and similar test are usually around $200-300.  As far as I know, you can not get access to these directly without a healthcare provider.  The only way I know of is to go through a doctor or a healthcare provider that has an account

Using the more direct methods there is more privacy because they have to follow HIPPA rules.  With 23andme I know they allow for third parties to anonymously harvest data for research.   They are not looking at individual information but looking for trends in the population that can be exploited.  With Lab Corp and Quest, the health privacy acts are in place.  The same privacy is in place for other vendors that do direct genetic testing. 

That should give you a better understanding of how to go about testing for MTHFR mutation and why you would think about testing for it.  If you need help testing or treating your MTHFR mutation, click on the link below.  For questions on the article content, please leave it in the comment section below. 


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