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How exactly does one confirm that they are, indeed, a MTHFR? It's a question that I get often. So let's get to the basics. Based on your health history, you may suspect that you and/or your children have an MTHFR variant. However, without formal DNA testing, you can't know for certain. We'll cover the ways you can go about getting that testing done in this post.

First off, there's a lot of talk about certain midline defects found at birth as being indicators of having an MTHFR variant. Some examples are the stork bite, which is a red mark found on the back of the neck, sugar bug, which is a prominent blue vein on the nose, and a sacral dimple, which is an indentation at the base of the spine. I will not go as far as to say that there is no connection between these physical markers and having an MTHFR variant. However, I do not believe they can be relied on or act as a replacement for formal DNA testing.

Many children are born with these physical features, yet have a typical MTHFR gene. Others do not have these features, yet have a variant. I am an example of someone who is homozygous for the MTHFR C677T variant, but did not have any of these physical indicators as an infant. If your child has these markings and you're concerned he/she may have an MTHFR variant, I encourage you to follow through with the steps below to confirm.

There is only one way to know for certain if you have an MTHFR variant and that is formal DNA testing. However, there are two ways you can go about getting that testing done:

1. Through a physician

The first way that you can get the DNA testing done is through your physician. If your physician believes that you have enough symptoms to warrant ordering blood work to test for an MTHFR variant, it may be covered by your insurance. However, if it is not covered by insurance, the test can unfortunately be pretty costly. More often that not, a naturopathic doctor or functional medicine physician will be more likely to order this test for you than your PCP. However, it is not unheard of for doctors who practice Western medicine to be aware of this gene and to test for it.

Unfortunately, many people who go this route have already reached a health crisis due to their untreated condition. It's difficult to justify ordering blood work without having reached that point and having a variety of unexplainable symptoms to back it up. However, once again, a naturopathic doctor or functional medicine physician may be more open to ordering that blood work for you as a preventative measure.

2. Through a third party testing kit

If you have not been able to receive an order for blood work through a physician, you still have options. You can order your own DNA test through a third party. These kits test your DNA via a saliva sample. The most popular choice is 23andMe.

This option is great for people who suspect that they may have a variant, but have not yet manifested enough symptoms to warrant testing through their physician. It's also a great option for parents who want to be empowered through knowledge to make the best possible choices for their children through means of prevention, rather than waiting for symptoms to manifest.

The Bottom Line

If suspect you have an MTHFR variant but can't get the testing done through your physician and can't yet afford to order a third party testing kit, don't give up! I encourage you to still make the lifestyle changes outlined on this blog. Really, the changes that people with an MTHFR variant need to make are healthy changes for everyone. The main difference is that people with this genetic variant have more immediately at stake if they don't heed to wisdom. Then, if you confirm that you do indeed have a variant, you will already be ahead of the curve on your healing journey.


To take a deeper, guided dive into how to thrive with an MTHFR variant, check out Hey MTHFR Academy. This 16-week online course will give you the tools you need to harness the power of epigenetics and befriend your MTHFR gene.



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