MTHFR Mutation? Consider these laboratory tests.

Finding out you or a loved one has a MTHFR mutation may be upsetting.

The good news though is you now are aware why so many symptoms go on unchecked without any successful treatment.

You are perhaps wondering: What next?

In working with many who have MTHFR mutations, I have learned the hard way that further testing is needed.

Typically, I am not a fan of ordering laboratory testing right away for various reasons:

  1. I feel like I am cheating – looking at the ‘answer key’ before I even get started my own thinking process
  2. Expensive for people
  3. I want to figure out what is wrong by taking a thorough history and ordering labs right off may reduce ‘digging’ for the root cause.
  4. Scary for children and some adults to get poked and prodded.
  5. I’ve worked with countless people who reversed their symptoms by simply avoiding wheat and dairy. (They didn’t have MTHFR mutations…)

I’ve grown out of these reasons even though I still respect my concerns and the financial aspect of the testing. MTHFR affects people differently and ‘guessing’ which lifestyle changes, medications or nutrients each individual needs is not productive nor cost-effective.

That said, I’ve learned which tests appear to be most useful in directly measuring important aspects of those with MTHFR (and even those without).

Here are the laboratory tests I like to recommend for MTHFR and the reasons why:

  • Biopterin/Neopterin: For those with A1298C mutations, BH4 (also known as tetrahydrobiopterin) levels are typically quite low. This test provides insight to how low these levels are and why. If neopterin levels are high, then I am considering the possibility of a lingering infection, inflammation or chronic immune response that is preventing biopterin from being formed. Thus, this test provides information not only potentially low biopterin levels but also why they may be low.
  • Urinary Porphyrins: Those with MTHFR mutations typically have elevated levels of heavy metals. This test points out the potential of heavy metals without the damaging effects of provoked urinary heavy metal testing. If urinary porphyrins are elevated, then you know you must work with a physician who is very knowledgeable about heavy metal chelation.
  • Urinary 40 Amino Acids: Those with MTHFR mutations have many amino acid imbalances. Not only does the Amino Acid test identify amino acids which are imbalanced, but it also informs a knowledgeable physician of other potential mutations. Yes, it is not that easy all the time. I’ve found that while working with MTHFR mutations, I do not get the results I normally see right away. Why? Because there are other mutations present which must be identified and addressed. Amino acids are the backbone of neurotransmitters. If any are low, then symptoms of ADD/ADHD, depression, bipolar, autism and other symptoms are likely present.
    • If a physician ignores knowing which amino acids are imbalanced, symptoms will linger on and the individual with MTHFR will not recover nearly as quickly. Worse yet, symptoms may worsen if a physician prescribes a medication or supplement which aggravates an already imbalanced amino acid level.
    • Learn more about the 40 Amino Acids test here.
  • Comprehensive Organic Acids: Those with MTHFR commonly have deficiencies in various metabolic pathways. Until these deficiencies are identified and addressed, fatigue, pain and other symptoms linger. This test identifies a variety of useful indicators such as potential candida infection, nutrient deficiency, B vitamins, energy production, fatty acid metabolism and carbohydrate metabolism, bacterial infection, ability to detoxify, oxidative damage, neurotransmitter metabolism,
    • If a physician simply prescribes you folic acid and aspirin, are they doing the right thing? They doing all the need to do? You miscarrying? Having blood clots? Suicidal? Depressed? Neuropathy? Insomniac? Autistic? Then the right thing to do is evaluate YOUR biochemistry and get it on track.
    • Learn more about the Comprehensive Organic Acids test here.
  • Nutrient and Toxic Elements – 24 hour Urine: Those with MTHFR mutations are commonly over-burdened with toxins and infections which deplete nutrients quickly. This test provides insight into which nutrients are specifically low and which heavy metals are being consumed presently. If an individual has elevated urine heavy metal without provocation, then they are experiencing current exposure which must be determined.
    • If a physician ignores present exposures to heavy metals, then they are fighting a raging fire with one bucket of water. I am also of the belief that a physician must address targeted nutrient deficiencies in order to restore cellular function.
    • Learn more about the Nutrient and Toxic Elements test here.

You can consolidate many of these tests by ordering just one specific test:

 Other testing to consider but not absolutely essential right away:

  • Ammonia: not essential because these tests identify the reason why ammonia will be elevated in the first place. (This marker is found in the NutrEval FMV test.)
  • Histamine: not essential because we can see histidine levels which is the precursor to histamine
  • Glutathione: we can deduce if glutathione is low if glycine, cysteine, selenium and glutamine are low.
  • Lipoprotein a: a very bad marker for cardiovascular disease. If this is elevated, it must be lowered to reduce cardiovascular risk. (This is found in the Cardio ION Profile.)
  • Gastrointestinal Testing: not essential because we can see potential yeast, bacterial, viral or fungal infections in the other lab tests. Plus, I always personally address everyone’s digestive function no matter what as I assume it is not optimized anyhow. Why pay for information that I already know is going to be potentially faulty? Lifestyle and dietary changes can make dramatic improvements in digestive function. Supplements may be needed as well – especially probiotics. If no improvement is seen within a few weeks of altering diet, lifestyle and taking suggested supplements, then GI testing may be needed.
  • Leaky Gut Testing: not essential because I personally address it out of the gate anyhow. Everyone has some extent of leaky gut – especially if they consume gluten. If you eat wheat, stop. It is that simple. Yes – everyone needs to stop eating wheat – period. It is a VERY toxic grain and it is increasing autoimmune disease significantly in our country. Even the FDA is working on getting gluten out of all pharmaceutical medications. That tells you something. Stop eating wheat, will you?
  • Heavy Metal Testing: Many with MTHFR mutations are not ready to dive right into heavy metal chelation. Digestive function, mental function, increased energy and basic lifestyle and dietary changes must be addressed before diving right into something as potentially harmful as heavy metal chelation. Once your body is ready to handle the added stress of chelation, then you move to it.
    • Obviously, if you are grossly burdened with heavy metals, perhaps it is best to remove them immediately; however, for the majority of people I have worked with, it is best to improve liver, kidneys, digestion, adrenals and general nutrition prior to chelating.
  • DetoxiGenomics: This is a genetic test which identifies which genes designed for detoxification are not working properly. This is very useful information to know if someone has been detoxing and only feeling worse. I prefer to optimize the individual first through diet, lifestyle and a specific supplement protocol along with sauna therapy, colonics and/or coffee enemas …and epsom salt baths, castor oil packs, dry skin brushing, rebounding. If I am not getting improvement through this methods, then a DetoxiGenomics profile may be necessary.
  • Pyroluria: This is a condition where people have trouble utilizing zinc and vitamin B6 because of a blood metabolite called kryptopyrroles.  Kryptopyrroles come from hemoglobin. If anxiety, depression and other symptoms of mental dysfunction are not improving with MTHFR treatment along with lifestyle and dietary changes, then pyroluria must be considered.
  • Additional SNP’s: In working with those with MTHFR mutations, I’ve realized that I am not only dealing with MTHFR mutations. While this is obvious because everyone’s biochemical make-up is unique, it is not obvious because physicians have not been using genetic testing as a guide for treatment very long – and some doctors are not using it at all still.
    • This test really provides a ton of very useful information about other mutations that are nearby the MTHFR gene. If the MTHFR gene is mutated and so is the CBS, MAO A, COMT and MTR genes, then we have a very difficult situation to deal with.
    • What does SNP mean? Single nucleotide polymorphism. This is a genetic mutation where a single base is different from what the wild type (normal) base is supposed to be.
    • I will likely start recommending this test right away as it will save me countless headaches knowing that the individual has X, Y and Z mutations. This information guides my suggestions more effectively.
    • Once I have this test available, I will post it here. Right now, it is in development. Expected arrival: January 30, 2012.

Labs that I want to see but no lab is readily providing them:

  • Red blood cell methylfolate: an excellent measure to see how much methylfolate you have in your system. Why take 15 mg of methylfolate if you don’t need it?
  • Peroxynitrite: no lab that I’ve found yet tests directly for this. Doctor’s Data has a precursor to this marker. I will research more and provide information as I find it. Peroxynitrite is likely elevated in those with A1298C MTHFR mutations and it is VERY toxic.

Overwhelmed? I understand.

Digest this over time or simply go for it and get it done. You live once. Your loved ones live once. You deserve to know what is going on internally and identifying the root cause of your symptoms.

Please share this information with your physician. Many of these laboratory tests may be covered by your insurance so please try to obtain these tests through your physician first. If that is not possible, you may order them through me. I can provide information about your results but I cannot – and will not – diagnose, treat or prescribe.

New Yorkers: It is not possible for me to provide these tests or any laboratory testing to those living in New York. You must work with your local physician in New York in order to obtain testing. This is New York state law.

Test results typically are known within 2 to 3 weeks.

Questions or comments – please post below. If you know of other testing which was very useful for you, please do comment below. Please do press LIKE, Tweet and +1 as people with MTHFR need to know about these laboratory tests.

41 Responses to “MTHFR Mutation? Consider these laboratory tests.”

  1. Martha January 2, 2012 at 8:16 am # Reply

    Dr. Ben,

    Based on the list you present, can you prioritize? Or do you need the findings from all in order for you to consult with us? Aside from removing wheat and dairy, are there other lifestyle changes you suggest we start now? As always, I appreciate all the information you have provided us! Happy New Year!

    • Dr Ben January 2, 2012 at 11:16 pm # Reply

      Martha –

      Great suggestion. I will work on prioritizing this list. This was an ‘in general’ article on lab testing.

      There are MANY lifestyle and dietary changes which can be done – and should be. I will work on those as well.

      I do not need any lab findings before doing consults as there are things you can do to get started improving. I put this article online because I know some people prefer to have lab testing done prior to scheduling a consult – or just are wondering which lab tests are needed – and why they are needed.

      The prioritization depends on what is going on and which mutation is present.

      For those with mental dysfunction and having A1298C – the Neopterin/Biopterin along with the Amino Acid 40 are essential.

      For those suspecting heavy metal toxicity due to mercury amalgams, their profession or hobbies, their location, then the Urinary Porphyins is a good idea to order.

      Again – MTHFR is so complex that any one article or one research paper or one supplement is not going to provide nearly enough information. Now that holidays are over, I am going to be writing and producing content like crazy – as fast and as accurately as possible.

      If you have access to sauna – do it. If not, then do something to sweat. Anything – the mere act of sweating is detoxifying so get it happening.

      As a father of three young children, married and running two other companies, soccer coach, soccer player and basketball player – my time is already pretty full but MTHFR is a passionate subject of mine and I want you and others to get the information they need.

      More so – I want physicians to get the information they need so they can properly and effectively work with their patients having MTHFR mutations.

      I feel the pressure and will meet it! :)

    • Susan November 1, 2012 at 3:01 am # Reply

      Dr. Ben, I am also interested in a peroxynitrite test because ONOO destroys BH4 and BH4 is used in the urea cycle. I have 3 genes that slow BH4 production and use it up more rapidly (including the MTHFR1298 genetic defect) and so I presume does my father. Right now he is in ESRD and I think extra BH4 might help him, among other things. I would like to see a measure of zinc also that works in a dialysis patient as 53% of dialysis patients have low free T3 and I am willing to bet it is from the low zinc diet prescrbed for renal patients (zinc is needed to make thyroid hormone) and I find that thyroid hormone is required in the urea cycle. Dialysis has caused such inflammation for my father that he went from being abl to drive to having dementia and being crippled and retianing so much water his clothes hrt him even though we bought clothes 2 sizes larger. We need to get him off dialysis and have ordered genetic tests to that end. I was so happy to see you have a BH4 test offered here. I’m looking for a peroxynitrite test next.

  2. DianeB January 3, 2012 at 1:29 am # Reply

    This link above takes you to a site that tests for the SNPs you talk about in your write-up. SNPs:
    ACAT – 1 SNP,
    AHCY – 3 SNPs,
    BHMT – 4 SNPs,
    CBS – 3 SNPs,
    COMT – 3 SNPs,
    MAO A – 1 SNP,
    MTHFR – 3 SNPs,
    MTR – 1 SNP,
    MTRR – 6 SNPs,
    SUOX -1 SNP,
    VDR – 2 SNPs,
    SHMT – 1 SNP,

    Results contains suggestions for consideration based on an individual’s test results. $500.

    I have long been considering this test.

    • Dr Ben January 3, 2012 at 7:50 am # Reply

      Hi Diane –

      I know this SNP panel. It is quite complete. Dr Amy Yasko is pretty brilliant when it comes to biochemistry.

      The suggested supplementation is pretty overwhelming and seems very costly. It may be what is needed – I am not sure. I know some get much better and some see no benefit.

      I like her test but I personally do not like the massive recommendations of supplements that come with it.

      I will be offering a SNP panel here shortly from a different genetic company. The test is still under development but soon will be done – end of January. Price should be about $375 or so but won’t contain suggestions.

      • DianeB January 4, 2012 at 11:37 pm # Reply

        Do you know of any good trials that I could get my son into? He has compound heterozygous (677 & 1298) and has paranoid schizophrenia since he was 14 yrs old. He is 30 yrs old now. We tried the Deplin, TMG & B-12 and it made him significantly worse. We took him off the protocol and have increased the supplements you talked about in another write-up you did in late 2011. He is improving off the protocol for now, but I know he needs the MTHFR protocol and need guidance on how to try it again in the future. I am assuming he has other abnormalities downstream from the methylation cycle that are throwing him off and making him worse. I am wondering if you know of anyone doing trials with the mentally ill in the MTHFR area, as he is so fragile mentally that any slight change in his supplements makes a profound change in his mind.

        • Dr Ben January 4, 2012 at 11:53 pm # Reply

          Diane –

          Hang on until end of January. There is a new gene mutation panel that I am developing with a genetics lab and it is almost done.

          This will help identify most common upstream and downstream mutations that are further compounding his MTHFR mutation.

          Is he on niacin?

          • DianeB January 5, 2012 at 1:21 am #

            Hi Dr. Ben,
            He takes 240mg of niacin daily which is contained in Beyond Chelation Improved by Longevity Plus. I have read alot from Dr. Abram Hoffer on Orthomolecular Psychiatry and he is a big proponent of large doses of niacin as a treatment for schizophrenia. My problem is that part of paranoid schizophrenia is getting the ill persons buy in. I believe the information coming from the genetic panel and a doctor suggested dose will be important for my son to be comfortable in making any changes. Also, just trying the Deplin change has set us back many months of progress so he is skeptical.

            I will be watching for the genetic testing and will get the panel done ASAP.

            I am also compound heterozygous and have had many health issues in my lifetime. I will also be doing the panel. I have two other children that each have one mutation (son-677; daughter 1298). I figure they may need the panel as well to ensure health now and in the future.

          • Dr Ben January 5, 2012 at 1:43 am #

            Diane –

            I understand his concern. Taking Deplin for a schizophrenic is like being put on speed. They already have massive glutamate issues and Deplin will worsen it.

            The niacin speeds up the destruction of glutamate.

            Vitamin B6 helps convert glutamate to GABA.

            Has he been checked for Pyroluria?

          • DianeB January 5, 2012 at 2:39 am #

            He has not been tested for pyroluria. I was excited to see that it was the same as malvaria because I have researched that topic in schizophrenia.

            The article you attached was very informative regarding glutamate. After reading it through I am sure we will find other genetic issues both upstream and downstream from the MTHFR mutation.

            It sounds like I need to get set up with you as a doctor for him, and use your knowledge to guide us through the mutations and issues with his health, along with what tests should be ran to try to get a handle on his illness. His health is fragile, and all insight is appreciated. He is also brilliant, and I know he would love to get his life back and move on to a good future. It has been a heartbreaking road with many lengthy hospitalizations.

            I can’t express my gratitude to you for this website. It is such a valuable tool for us out here who are struggling to find answers for our loved ones, and ourselves.

          • Dr Ben January 5, 2012 at 5:19 am #

            My pleasure, Diane.

            I understand the frustrations out there with improper care. I personally received it self years ago for a knee injury and my wife suffered decades with rheumatoid arthritis – both resolved now through my own persistence and study.

            Make sure you keep in touch with as I will be posting much more information as time permits.

            I look forward to helping your son utilize his fullest potential.

  3. Amber January 13, 2012 at 3:19 am # Reply

    I’m 23 years old finding out that I have MTHFR. I found out by having continuous miscarriages. I find myself being easily depressed. I have anxiety issues as well. Even before I knew anything about this disease. I have my doctors appointment tomorrow, It will be going over the lab results. I am thankful I read a more in depth description of the studies concerning the roughly 35,000 people it affects. My nails chip off easily and my hair falls out a lot! The vitamin B complex and low dose aspirin have seemed to help strengthen nails and hair. So I can tell its doing something for me. My husband and I have tried conceiving and carrying for 3 years. I find myself not being able to conceive very easily. I always miscarrying right before first prenatal visit. I have severe abdominal and lower back pain the first three days of Menstrual cycle. I hope to be able to still have a beautiful healthy family one day. I avoid taking pharmaceutical medications do to the fact that it harms you more then it helps you most if not all cases. I couldn’t have picked a more pathetic means of survival so called “job”. I chose this job because I thought it was medicine that is beneficial to people. The more I understand the more I notice just how wrong it is what these people have been trained to do to others. I lean more towards natural medicines. Everything we needed was already here for us, yet we thought ourselves wiser. How far have we come? More people should stand up for the path you’ve chosen! I am forever greatful for your dedication to this practice.

    • Dr Ben January 13, 2012 at 10:09 am # Reply

      Hi Amber –

      Which MTHFR mutation you have? I assume you haven’t been told yet from your comment.

      We can improve your symptoms and hopefully get you a healthy child. Many with MTHFR mutations have healthy children – just takes some work.

      • Amber January 13, 2012 at 8:26 pm # Reply

        Ok, so I found out I have Type A (heterozygous).
        My homocysteine level is 7.1 which doc. Said was smack dab in the middle of below.
        He also informed me of tpo antibodies that were positive. Have to do more research to fully understand more in dept about the subject. Although understanding there are fertility issues concerning that as well. The pain every month on menstrual cycle, he believes is endometreosis. He says he can’t for surely know that for a fact unless I’ve been given a laparoscopic examination surgery… I’m just a rare case of unexplainable conceiving group. Endometreosis has fertility issues too. The infertility specialist is taking extra precautions with the MTHFR. The foltabs and the low dose aspirin and lovenox injections twice daily when carrying. I bruise easily.. And have noticed the aspirin increasing the bruising. I’m still undecided to be put out or not. Pain free for a year… I wouldn’t know what to do. Hope this better explains my situation a bit more clearer.

        • Dr Ben January 13, 2012 at 8:44 pm # Reply

          Hi Amber –

          If your TPO antibodies are positive, that means you have Hashimoto’s Thyroiditis. This can cause fertility issues. Avoid all gluten, increase vitamin D3 intake and EPA/DHA along with selenium and probiotics.

          Endometriosis is definitely a fertility issue as it has your estrogen levels too high thereby making your progesterone too low.

          Need to work on your liver, gut, cleaning up your environmental surroundings and diet along with nutritional changes.

  4. Barb February 27, 2012 at 11:31 pm # Reply

    Dr. Ben,

    Could you recommend a lab that tests for pyroluria? I would like to get my son tested. I would also like to thank you for all the work you are doing with MTHFR and this website. I had just found out that I was compound heterozygous right before your site was started and it has helped me tremendously! Keep up the good work, you are helping many people get their lives back.


    • Dr Ben February 28, 2012 at 7:28 am # Reply

      Hi Barb –

      I recommend Great Plains.

      I will offer this test soon as it is something that should be tested when symptoms are not improving.

  5. PattyLA March 26, 2012 at 8:15 pm # Reply

    Hi Dr Ben,
    I am trying to figure out what testing to pursue next for my family. We each have our own mthfr mutations and we each have our own health issues. Prioritizing everything is difficult when everyone is sick. Unfortunately I (mom) am the sickest of everyone. I can get the nutreval done very affordablly through my Dr’s office and am considering getting it done on one or more of us. I’m not sure how to know who it is right for. The 2 who are the most impaired have homo 677. The other 2 have healed more over the past 2+ years of diet changes (they are each compound hetero). 3 out of 4 have chronic Lyme (dad doesn’t). I still have amalgam fillings in and am trying to figure out when and how to get them out (I am also still nursing the other homo 677). If I didn’t know about the chronic lyme I would probably be dxed with fibromyalgia or cfs. I have a suppressed immune system (cd57 of 20) and keep getting sick (my mostly recovered adrenals have taken a beating this winter from back to back sicknesses and are now struggling again). I also am on t3 only thyroid meds because of an rt3 issue. My older dd has mostly psychological issues, adhd, depression (compound hetero), She is on naturthroid and was on adrenal support until recently. My younger dd has mostly GI issues, reflux, constipation and now almost 2 months of unexplained belly pain (homo 677). We have been on the GAPS diet for more than 2 years and eat very clean. My younger dd and I have been on a low oxalate version of it for nearly a year. As you can see it is complicated! My biggest question is where do we start. What testing will help us begin to unravel this mess? (some of the tests you recommend on this list have been done in the past like the urine polyporphyn test and urine amino acids test but not recently). Also I want to get my fillings out but I want to be able to deal with the mercury it kicks up. When my younger dd was 6 months old I got 2 fillings replaced because they had decay under them and were causing problems. She went from easy going to up screaming all night within 48 hours and never returned to her easy going self. My health crashed 18 months after that removal and I wonder if that is related. I am afraid of getting worse! I am taking homocystex and seeing some benefit. At first I could only take it every 2-3 days but now I can take it daily. I also love your mthfrade but because of oxalate issues can’t include the vitamin c. It still is very helpful. But I feel like I’m not getting to the root and I’m not sure how to figure out what that is. I have been working hard for 2+ years to find healing for myself and my children and it continues to elude us. We have seen many practitioners over the years seeking health. Our current naturopath is very open to learning more about MTHFR and ordering tests but she doesn’t know much, yet.

    • CAWS June 24, 2012 at 9:17 pm # Reply

      You may want to consider weaning now as mercury not only crosses the placenta but also the breast milk; further poisoning the infant. I wish I had known this for my children but info not available. Read Infertility & birth defects by Dr Michael Ziff. Also when you get fillings out make sure you go to a biological dentist. See for worldwide listings. As for baby nutrition please go to for healthy homemade formulas from organic raw milk.[goat or cow]. Heavy metals & halogens [fluoride,bromine,chlorine] hide in many places–including pharmaceuticals [see for list] and MUST be avoided as they cause DNA damage, mimic enzymes,hormones,nutrients, and block receptors. Go to for more info. Good luck.

  6. Jared June 23, 2012 at 5:34 am # Reply

    What is the status of the test you were developing for SNP’s? I think I am to be tested for MTHFR in a couple of weeks and might try to get some of those tested as well.

  7. Thera July 26, 2012 at 9:11 pm # Reply

    Hi Dr. Ben,

    I am homozygous C677T. i had a consult with you shortly after I found out and was feeling a little better but now I am just more confused and tired. I just had a Urine Amino Acids and Organic Acids Test through Great Plains lab and I am so confused. All of my amino acids levels were in the 2%-10% range. Specifically Lyseine, Luecine, Taurine, Histidine, Cysteine… Extremely deficient! Even Ammonia was extremely low? I eat a great variety of protein from plant protein, nuts, beans to Chicken 3-4 times a week and some organic beef. I have been gluten free and mostly dairy free for the last four months and eating very healthy, mostly organic and greens. I also supplement methylfolate, methylcobalamin, fish oil, krill oil, turmeric, zinc, chia/flax seed, trace mineral drops, Co-Q-10, nattokinese, liquid Chloropyl, glutamine and probiotics. Also do epsom salt foot baths and/or castor oil packs. I have been trying to get pregnant for over five years, one miscairage. My candida and bacterial markers were all over the place even though I have been taking multistrain probiotics. My parabens were really high as well so have been trying to reduce that. Basically, I don’t think my body is absorbing much of anything. I don’t really want to add additional supplements right now because i don’t know that they are absorbing at all and some of them are contradictory, eg. My Vitamin C levels are low but my Oxalic levels are really high so I read not to take Vitamin C with high oxalic levels, because it can cause Kidney stones or renal damage. I have digestion issues, constipation, bloating, I get colonics 1-2 times per month as well. Also have been getting constant break outs on face. I am having a really hard time healing my body and can’t find a good doctor. Is there anything you recommend? The extremely low amino acid levels really concern me, is there another way to increase those? Is there a good antifungal you recommend? I really appreciate any help you can provide. Thanks!

  8. Sara August 12, 2012 at 2:20 am # Reply

    For the additional genes that are good to test (COMT, CBS, MAOA, MTR), does anyone know some specific SNPs that are important to check. I looked at my 23andMe results, but there are quite a few SNPs per gene.

    An important SNP for COMT appears to be rs6269, but I couldn’t get information for the other three.

  9. Kim September 8, 2012 at 3:39 am # Reply

    Dr. Lynch,

    Thank you for all your information. I have been sick my whole life, I am now 41. I just found out I am heterozygous for A1298C. I am so confused. I have issues with my gut, fatigue, pain, severe headaches and depression. I have been reading a lot on Phoenix Rising about methylation. They recommend a test by Health Diagnostics and Research Institute are you familiar with their test? I am confused about what other tests I should take, I was going to do the Complete GI Profile and the TRIAD test from Metametrix but after reading your recommendations I am not sure. Any suggestions?

  10. Paula Thomas March 4, 2013 at 7:03 pm # Reply

    I have an appt with my ND in Bellevue to go over my methylation test which I took on my own from Holistic Health. I’m not sure if I have more mutations than most but it seems to me I have quite a few. I’m +/+ in COMT V158M & H62H and MAO A. And Hetero in ACAT, 3 mutations of MTHFR and 4 mutations of MTRR, 3 mutations of BHMT and CBS C699T.

    My health issues are not as extreme as I would expect, at least not yet. The majority of my health issues began when I had skin contact with epoxy. It took a couple of years to figure out a change in my diet would made a big improvement but I knew more could be done but I didn’t know what until I learned about methylation. I’ve watched your youtube video several times and I plan on encouraging my ND to watch it too.

    I haven’t decided what supplements I should take other than the ones you mention on your youtube video. As you mentioned, the list that came with the Holistic Health test results is crazy long and hopefully not necessary.

  11. kidney stones information in urdu April 9, 2013 at 7:31 pm # Reply

    Today, I went to the beach front with my children.
    I found a sea shell and gave it to my 4 year old daughter and said “You can hear the ocean if you put this to your ear.” She put the shell to her ear and screamed.
    There was a hermit crab inside and it pinched her ear.
    She never wants to go back! LoL I know this is totally off topic but I
    had to tell someone!

  12. Sham April 18, 2013 at 6:44 pm # Reply

    Dr Ben,

    Do you have the test for other SNPs?

  13. Nicole Williams October 31, 2013 at 3:50 am # Reply

    Hi Dr. Ben,

    First of all, thank you for this website an all the valuable information. I have learned so much!

    I am writing because I am considering getting pregnant and was diagnosed with both C677T and A1298C mutations. My husband is a carrier for one mutation. I was tested for this because 14 years ago I wad diagnosed with a venus thrombosis of the left sagittal sinus and right transverse veins. The blood clot was massive almost causing a stroke. It caused crossed eyes, seizures and more.
    14 years later, I am completely healed. I am very healthy and high functioning, and truly have no symptoms related to these gene mutations (as far as I know!). I am concerned how this will translate to getting pregnant and having a healthy baby. I am told that I will be a high risk pregnancy and my OBGYN has me taking Neevo for 6 weeks prior to trying to conceive and also lovenox once I do conceive. My concern is that my doctor does not know very much about MTHFR and I really need guidance on what is the next step and the very best thing I can do to be healthy and have a healthy child. Can you help?

    Thank you so much!

  14. Dee November 13, 2013 at 5:31 pm # Reply

    I am concerned about nitrous oxide anesthesia since a family member is probably
    Vitamin B-12 deficient with the MTR, 2 MTRR and 3 MTFR heterozygous mutations.
    They are on 5 methyl folate and hydroxycobalamine injections and looking for sublingualmethyl B12 tablets.

    (Dr. Teresa Flippo and Dr. Walter K Holder, Jr. wrote in Vol. 128, No 12, Dec.1992 Arch
    Surg. 1993: 128(12):1391-1395)
    Neurologic Degeneration Associated with Nitrous Oxide Anesthesia in Patients with Vitamin B12 Deficiency and sometimes death.

    I am concerned about the patient being under anesthesia for several hours for a
    lengthy procedure.

  15. Thomas February 9, 2014 at 1:26 am # Reply

    What do you think about taking the 23andMe genetic test and then using genetic genie to help you interpret the results? I’m surprised not to see the 23andMe test among the additional tests you recommend.

  16. Staci May 11, 2014 at 12:18 am # Reply

    Hi Dr. Ben,
    I am new. My almost 4yo completely unvax son was dx with Autism and Sensory Processing Disorder at 18mo. He’s also allergic to casein/milk, gluten and food coloring dyes. And Reactive Airway Disease. Lost in the rabbit hole of googling WHY/HOW I stumbled across MTHFR which was like a laundry list up my mother’s and her mother’s side of the family, and had my dr test me. I am positive for hetero C677T. That same blood test showed hsCRP 4.6 and ESR 28. I’m trying to read through all your articles like this one but I’m overwhelmed and confused… and in an utter panic over the inflammation/MI/stroke/Alzheimer’s link. So I don’t know where to start for me? What to take now? While figuring out what other tests I need? And bad news, I’m in NY. I order 23&me for all 3 of us but I haven’t completed it yet because it makes you promise to collect the salvia outside of NY and then mail it, and I haven’t had the chance to make that road trip yet.
    I’ve spent the past 2.5yrs trying to heal and recover my son via his gut, and now this throws me for a loop. What I’ve read of Autism + MTHFR is that I should supplement my son with both methylfolate and Acetyl Glutathione? Is that right? I had a DAN! dr suggest ProImmune (Glycine + L-Glutamine + L-Cystine) when he was 24mo but I think it made him stimm more so I stopped about 9mo into it. And he’s been on GutPro probitotics and Agape multivitamin, both created for kids on the Spectrum. But now I don’t know if thats right either…
    Help. Thank you

  17. Susan Murphy June 5, 2014 at 8:04 pm # Reply

    Hello, Can you recommend a doctor who specializes in Mthfr issues in the Phoenix/Mesa area?

    Thank you,


    • Jody November 17, 2014 at 10:12 pm # Reply


      I’m looking for a Dr in the Phoenix area as well. Did you find one?



  18. Valarie Sobo July 16, 2014 at 4:05 pm # Reply

    Dr. Ben,

    I am compound hetero MTHFR and FVL genetically. Other markers suggested as well. My mother died from DVT complications. My maternal grandmother died of what the doctors in 1963 called an inability to process B Vitamins (?!?!?!) My sister – previously testing positive for FVL genetics – is now scheduled for hip replacement surgery. I begged for a hematologist consult and FULL thrombophilia panel for pre-op info so that her surgeon and hematologist would be on the same page if there were any complications. At birth she was in NICU for 6 weeks with “jaundice” and so I had my fears.

    MTHFR test was run. It was positive.

    Her insurance provider BCBS of Texas has declined to pay ($350) since the lab request was “investigatory”. I believe that it was a pre-op necessity and should be paid.

    What do we have to do/provide the insurance provider to cover this lab test?? How can I help her fight this denial of benefits??

  19. Carol W August 16, 2014 at 1:59 am # Reply

    your metametrix links are broken, fyi.
    Thanks for the work you do.

  20. Paula October 21, 2014 at 11:04 am # Reply

    Hi Dr. Lynch,

    My husband is heterozygous c677t. He had the Nutraval test done and their recommendations for folate were 1200mcg. Can I assume these dosing suggestions are correct based on his specific findings or are the labs over prescribing folate much like many physicians seem to be doing? His naturopath recommended 2,200mcg folate. Both doses are much higher than the 400mcg you suggest in your basic protocol.

    Thank you for any insight into lab interpretations you may have.

  21. S.B. November 13, 2014 at 7:57 pm # Reply

    Do you have the “Additional SNP’s” yet? Thanks!

  22. Tiffany December 21, 2014 at 6:25 am # Reply

    I have not yet found a doctor that knows much, if anything about MTHFR. Where do I find an educated doctor of MTHFR? I have blown so much money on dead end medical efforts and I want to get to someone that truly knows what is going on so I can get on the road of healing and hopefully once again living a normal, healthy life!!

  23. Sally March 7, 2015 at 12:41 pm # Reply

    I wonder if you could update this article now. It is some years since 2011 and from what I hear research is spitting out helpful mthfr results everyday. I’d like to know what you now recommend in light of new research. Thanks so much. I have mthfr and pyroluria and at least two of my four children also have this problem (and autism). I’d appreciate all the help I can get from experts. We live in an isolated part of Australia. Very hard to get good help locally!


  1. Read this First! | | MTHFR.NetMTHFR.Net - January 26, 2012

    […] Additional Lab Testing to Identify Imbalances […]

  2. Give Folic Acid with a MTHFR Mutation? Question to Dr Ben - MTHFR.netMTHFR.Net - February 13, 2012

    […] It is impossible to say without knowing which MTHFR mutations he has and running further lab testing. […]

  3. MTHFR, Folic Acid, and Mitochondrial Disease… is there a link? | Taking Baby{food}Steps… - May 14, 2012

    […] And here is an overview of OTHER LAB TESTING that can be done to access your MTHFR  health status HERE. […]

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