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  • Nancy Mullan, MD

How To Test For An MTHFR Mutation

Updated: Jan 23, 2020

How do you know for sure if you have an MTHFR mutation? Getting the right test done is the most important thing you can do to find the right treatment. You want to check not only for MTHFR mutations, but for other mutations in the methyl group producing pathway that impact methyl group formation.

Genetics based supplementation is complex but not impossible. By looking at diagrammatic representations of the methyl group producing pathway, knowing your own genetics, and relating what you know about the impact of genetic mutations on the formation of methyl groups, you can formulate some hypotheses about what your methyl group production status may be. Then you perform biochemical testing to uncover what the situation in your body actually is. When the tests come back and you have considered them, you can target nutritional supplementation to optimize methyl group formation and methylation function in your body.

This is a process that is done over and over again as your body changes and you progress toward wellness. The vitamins, minerals, and other substrates in your body come into balance, and then need to be rebalanced again as you go along and your internal conditions change. It is a process. It is a complicated process viewed all at once, but broken down into steps, what to do becomes more apparent. This method provides guidelines for you that clearly indicate which direction is up.

The URL' s for many supports are available to you on They include links to Dr. Amy Yasko’s Nutrigenomics Discussion Group, the books she has written which are posted online, the many videos of her lectures which are also there, her workbooks, supplement lists, etc. You are given access to a tremendous amount of information about how to proceed.

Many of you have been suffering with developmental disability or chronic illness for a long time. Most often you have been to doctors who may have helped a little or sometimes not at all. Some of you have even been made worse by the recommendations you have been given. New information, like the impact of MTHFR on your biochemistry, takes time to filter into the mainstream. The solutions for MTHFR issues are nutritional as opposed to pharmaceutical, so they may take even longer to see the light of day. You need answers now.

To start, get genetic testing of your methylation pathway. Use Dr. Yasko’s Nutrigenomic testing. It is a blood test. Blood is more reliable than saliva. You get fewer no answers (N/A) for genes that they cannot find. Saliva testing is considerably less expensive, but sometimes you get (N/A) for important genes. 23andme Health and Ancestry DNA testing is widely used.

I have a free, downloadable ebook on my website that explains methyl groups and methylation. Click here to download your free ebook.

If you want expert help personalized to your unique body chemistry, you can consider getting an Exploratory Conversation with me. This is a 30-minute conversation in which I will listen to your health issues, review your test results (if any), and make recommendations about what I think you should do. You can tell me all of the things you have tried and I will give you my input about what you can consider next.

The fee for this service is $129. It is easy to set a time for this conversation, and it can save you weeks or months of doing the wrong thing, lurching around in the dark with a clinician who doesn’t know anything about the genetics or molecular biology of MTHFR. You may be dealing with conditions in your body that are confusing and difficult to understand. I can help you cut through all of that and give you clarifying input that moves you in the right direction.

I look forward to being able to help,

Dr. Mullan

What people like you are saying about Dr. Mullan’s work:

I shudder at the thought of what my family would be like without Dr. Mullan. Thankfully, with her help, we have stopped my husband's chronic 30 year battle with kidney stones. He is no longer forming them and is stone free. My thyroid is now working normally, my body temperature is almost normal and my hair has grown back. My oldest daughter's Autism is in the process of being reversed and her hair pulling has stopped. The greatest blessing from our good health is the birth of my second daughter Ava, now one-year-old. At 50 years old I carried her to term. One of my doctors commented to me saying “ you are carrying this baby like a 22-year-old.” Yes, I am because of Dr. Mullan and working on my methylation pathway. One by one she is knocking off symptoms and bringing us back to health. The future is bright! Thank you, Dr. Mullan, for the work you do.


Wow. I feel great. Thank you for your help. It's amazing really. Like a light turned on. Curious to see what the next tests show. To ride this peak indefinitely is my goal. Ha. I have energy again. Yay!

Really grateful,


I am so relieved. My daughter is doing SO WELL since we started with you! We have been to so many doctors and tried so many things.Now I can start working on my own program with you....


So excellent! I literally learn something every single time and I get clarification on things that have been lingering in my mind… VB

You are giving people a huge gift by empowering them… It’s about helping the patient become their own healer by taking them to a higher level of consciousness… AL

Thank you so much, Dr. Mullan. Thank you so, so much for everything you do. MS

Wow! I have to tell you, this was such an uplifting session. It’s so nice to hear good news, especially about a child. Anxiety, OCD and a host of other mental/psychiatric symptoms have been a huge hurdle for me. So to hear this story of all those awful symptoms totally going away is such a bright light for me!!!! TR

Fantastic, caring, smart, savvy doc. I worked with Dr. Mullan for a couple of years to help MTHFR mutations and their associating expressions! To say the least! She's brilliant. At that time she had weekly calls for her patients - free - where we could ask questions and she would reply. What doctors do this? She does. She's also an animal lover and is right on about the way she practices medicine. I highly recommend her. In good health!


"Dr. Nancy Mullan is a beautiful person. She is an expert in her field and has helped our family so much. I am very grateful to her. She came highly recommended and I know why. I would recommend her and her website for information re: healing from a genetic point of view. Thank you, Dr. Mullan, for everything.”


"Dr.Mullan has helped me with issues that I have struggled with for years. She is knowledgable and practical. I would recommend her to others.”


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