MTHFR Screening

Question from a colleague:
Ben,
Hey how’s it going. I have been trying to read all your stuff on MTHFR. but I am missing something. Is the first screen process getting a homocysteine level on all patients or just ones with depression, strong family hx of cardiovascular disease, etc. thanks

Answer:
Not all those with MTHFR mutations will have an elevated homocysteine level – especially those with heterozygous mutations, taking supplements and eating well.

Screening for MTHFR is not set in stone and there is no set protocol out there as it is not on the radar yet. I believe it needs to be.

Patients that I recommended screening 100% for MTHFR mutations:

  • Pre-conception care: test both man and woman
  • Mental dysfunction including but not limited to depression, anxiety, irritability, mood swings, schizophrenia, bipolar
  • Infants and children of parents with MTHFR mutations
  • Family members related to someone with MTHFR mutations
  • Elevated folate (not processing to active 5-MTHF due to inability to methylate)
  • Elevated homocysteine (due to low active 5-MTHF and methylcobalamin)
  • Elevated s-adenosylhomocysteine (due to low active 5-MTHF and methylcobalamin)
  • Elevated serum cobalamin (due to inability to methylate cyanocobalamin to methylcobalamin)
  • Elevated methylmalonic acid (due to methylcobalamin deficiency)
  • Patients with syndromes: IBS, Chemical sensitivity, Fibromyalgia, Down Syndrome, Chronic fatigue syndrome
  • Neurological disorders: Multiple sclerosis, Autism, Alzheimer’s, Epilepsy, Parkinson’s to name a few
  • Cancer: family history of cancer or undergoing cancer treatment
  • Cervical dysplasia
  • Infertility
  • Cardiovascular risk: family history of strokes, embolisms, heart attacks, clots, essential hypertension
  • Birth defects: cleft palate, tetralogy of Fallot, spinal bifida, midline defects
  • Drug sensitivities: methotrexate, anti-epileptics, nitrous oxide, anesthesia

Here is a list of conditions potentially caused or worsened by MTHFR 

Now is this being overly cautious and over-the-top?

In my opinion, no.

The genetic testing for MTHFR mutations of 677 and 1298 costs only $150 – $200 and is often covered by insurance.

$150 to $200 is very inexpensive compared to a life of unresolved symptoms, mental anguish or worse – miscarrying a child.

Just a few years ago, vitamin D3 deficiency was not on the radar. It was not being tested for and countless patients and individuals were suffering needlessly from an increased risk of:

  • Fractures
  • Osteoporosis
  • Depression
  • SAD
  • Cancer
  • and others…

Now, patients and indidivuals are paying around $60 for vitamin D3 blood testing to monitor their levels – and they are ordering this test once or more each year.

A MTHFR genetic test is ordered ONCE in a lifetime.

I do recommend that a tag-along blood test be ordered and that is the Methylation Profile by Doctor’s Data.

UPDATE September 9, 2012:
I am now recommending a more comprehensive Methylation Pathways Panel as it measures a variety of folates, SAM, SAH, glutathione and some other markers.

This test along with the Methylation Profile by Doctor’s Data can provide insight how your methylation is doing.

If you need to choose one, then I recommend the Methylation Pathways Panel as you will obtain more information from it compared to the Methylation Profile by Doctor’s Data.

This helps guide nutrient recommendations and avoid the ‘guessing game’ of how much 5-MTHF to give and how much methylation support is needed.

We physicians know that excessive methylation may lead to cancer. We also know that hypomethylation can lead to cancer.

That said, it is very important in my mind to monitor the MTHFR mutation therapies by using the Methylation Profile.

Many doctors think that if an indidivual is not expressing any symptoms or signs of MTHFR defects and their homocysteine is fine, no lab testing is needed and no supplementation changes are needed.

I fully disagree.

Given the prevalence of the MTHFR mutations, over 50% for heterozygous A1298C (need source – saw it recently), I am adamant about testing for MTHFR mutations in pre-conception care.

Also, in terms of effective supplementation for the general public:
It is easy to give a prenatal or additional supplements with the active 5-MTHF, L-5-MTHF and active methylcobalamin – so why not do it for everyone – regardless if they have MTHFR mutations or not?

I look forward all of your comments.

This is a discussion that must be had and we cannot have a discussion without your input – so please – provide your twenty-five cents.

In health,
Dr Ben

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33 Responses to “MTHFR Screening”

  1. Linda Tao June 4, 2014 at 11:54 am #

    Hi – I am an integrative cardiologist in New York City and have been ordering the MTHFR test on many of my patients over the past few years. Despite practicing within the insurance model most insurances have covered the test through traditional labs e.g. labcorp, quest etc. However I have lately gotten a few “justification” queries. With the above list of patient conditions that you would test, do you have some readily available literature supporting some of the more common conditions? Would really appreciate the help – and am grateful to have both you and Dr. Yasko for your work on MTHFR. Thanks!

    • Dr Lynch June 4, 2014 at 5:43 pm #

      Hi Linda –

      I am finding the best labs to use are Spectracell and Molecular Testing Labs. However, since you’re in NY – that makes it more complex. Do call these labs though and see if you can order them in NY. I know Spectracell has pretty good results with insurance.

      I don’t have ‘ready’ available information for insurance companies – it is something I should work on. A quick scan in PubMed should show them the seriousness of MTHFR.

      Using 23andMe to test patients genetics is still a valid option as well – especially if you run it through Genetic Genie or MTHFR Support. They don’t do Health Traits anymore but the raw data is still there.

    • Dr A November 14, 2014 at 12:51 am #

      Dr. Tao, Dr. Lynch,
      I am also getting justifications requests that I have not gotten before from the insurance companies. Any progress in the justification efforts that you might share?

      Dr. Anderson

      • Dr Lynch November 14, 2014 at 7:24 am #

        Dr A – nothing from my end as I don’t deal with insurance companies. I typically just recommend 23andMe, Spectracell and Molecular Testing Labs.

  2. Melissa June 5, 2014 at 9:45 pm #

    Hi Dr. Ben!

    I found your website and information fascinating and unlike anything I have read to date. A lot of what you say is “over my head” so to speak. My husband and I are pre-conception now and plan on conceiving in about 10 months of so. I have an appointment with my OBGYN (first time meeting with someone that is highly recommended within my HMO network) and I have compiled a list of blood work that I want performed. Can you please give me a complete list of blood work no matter how big or small that I can request specifically from this Dr? With reading your site, I have many different profiles and labs, and I’m wondering if you can break-down exact tests or complete panels specifically so that I can request them verbatim from my OBGYN. An email directly to me would be greatly appreciated!

  3. Jude June 11, 2014 at 11:01 am #

    Hi Dr Ben,
    Have a 4yo granddaughter with compound het 677 and 1298, Born with low muscle tone, has delayed speech and still struggling with a chronic fatigue type of low energy. Low pain threshold and very sensitive, still occassional nocte enuresis.

    For 2 yrs has been no grains, no sugar, no fluoride and restricting EMF exposure. Vit D level 58. Diet includes plenty of fish for O3’s.

    Her mum wants to start supplementing her now but not sure where to start…Could you advise us re Homocystex for kids ? Any comments we can take to our unknowing GP would be great……..Thanks from another Aussie…loved reading of yr feats down under! Thanks/

  4. Candice August 13, 2014 at 3:20 am #

    Hello,
    I am just at the beginning of my journey of understanding MTHFR gene mutations and it’s impact on my life. I have not been screened yet, but I plan to be as soon as possible. In the meantime I have a few questions. My son was born with a sacral dimple, his but crack is literally crooked. Does this mean I may have MTHFR mutation? Does this mean my infant has MTHFR mutation? I am wondering if he does how can I figure out dosage for him being so small and I imagine my doctor may think I’m nuts when I bring any of this up. Also as far as vaccines go would he be at higher risk of negative side effects because his inability to detox as well as people without mutation.
    Also of I do go in methylated folate would it be okay to be on that while breastfeeding? I’m nervous I will have to basically great myself if I’m unable to find a doctor that knows a lot about this.
    Thanks for any tips
    Candice

  5. Mike Morabito October 16, 2014 at 2:04 pm #

    Hey Doc!

    I had a blood panel two years ago where the doc also ordered a test for MTHFR677 and MTHFR1298. I tested positive for the 1298 A/C mutation. I was placed on 7.5mg 5MF. I was already on Lexapro for depression and anxiety, and I felt the 5MF tended to “even” me out. I recently discontinued Lexapro, and felt awful in the process, and went back on 5MF 7.5mg. I decided to try 15mg per day, and it has made a huge difference, but I’ve only been doing it for a few days. Are there any correlations with the A/C mutations with regards to depression and anxiety?

    I am going to have my son checked for the mutation as well. He is currently being treated for ADHD, of which I also had until I grew older. If he has the A/C mutation, what would your starting dosage of 5MF for him? He weighs 100 lbs, and also suffers from anxiety, which could be associated the the concerta he is taking.

    Thank you for your advice, and keep up the good work.

  6. Claire October 18, 2014 at 12:17 pm #

    Is it possible to have sensitivities to local anesthesia? I have elevated serum folate. Have had it in all my blood tests for a few years now! Recently had a miscarriage (after 3 healthy births, and this was the first pregnancy I swiched from folic acid to methyfolate supplementation!) and then went on to have some minor surgery to remove moles and cysts. Following the miscarriage I have been unwell, some UTI symptoms. Doctors don’t know why. They think it’s all in my head. I’ve had anxiety type symptoms: tight chest, shortness of breath, 2 nights of uncontrolable shaking (no fever).
    Having discovered your website I am now wondering if this is to do with MTHFR, elevated serum folate, possibly made worse by anesthetic??
    I also see you say infections (parasitic/viral/bacterial) can make things worse. SInce this last year I’ve been suspecting some sort of infection that is lingering since I had a bout of food poisoning 1 year ago. And then just after the miscarriage I also had UTI type symptoms.
    I am really confused. Doctors telling me it’s in my head but I feel for some reason my health has deteriorated this last year, causing the miscarriage and tight chest etc…despite eating well- organic, I do eat liver weekly etc…

    I would so appreciate your advice Dr Lynch. This is a new topic to me. I used to be so healthy. Not sure what to do as doctors telling me I’m fine when I know there’s something not right.

    • Claire October 18, 2014 at 12:18 pm #

      By the way I took a course of Trimethoprim antibiotic for the ?UTI which I heard robs you from folate. But my serum folate is still high??

  7. Rebecca January 7, 2015 at 7:50 pm #

    Hello, I am writing because I am suffering from a second trisomy pregnancy at age 42 after 5 healthy live births. I know age is a consideration in my case, but I have been bothered for the past couple of years with the inkling that something is “not right” with my nutrient metabolism. I am ordering the MTHFR mutation buccal swab kit, but in the meantime, would it be wise to start the Seeking Health prenatals with the correct type of folate? In the past I have always used a generic grocery store prenatal. We would love to conceive one last healthy baby if it’s possible. How long should i take the correct prenatals before trying again? Time is not on my side.

  8. Dr Kristen February 7, 2015 at 2:54 pm #

    Dr Lynch-
    I am a family medicine physician in Michigan, and recently found that I have compound heterozygous MTHFR mutation (C677T and A1298C) after suffering my second consecutive miscarriage in November. I am investigating myself, as my obgyn doesn’t seem concerned. I do have h/o PCOS and struggled with severe anxiety/depression after stopping long-term birth control two years ago. Still experiencing anxiety/ocd tendencies namely with monthly hormonal fluctuations, and am SO curious if the anxiety and the miscarriages are all related to the MTHFR?
    Physicians are so clueless, and I am determined to search for my own answers.
    I began a prenatal vitamin with methylfolate, and have contacted an integrative medicine physician in my area (as listed on your resource list) to help educate me further. Do you feel this is the proper course of action? I am assuming I need further testing to help make sense of this?
    Thank you in advance for any recommendations! I am so glad to have found your site.

    Dr. Kristen K., Michigan

  9. Dr Kristen February 14, 2015 at 9:16 pm #

    Dr Ben-

    I just wanted to say thank you for your prompt reply and the various suggestions to read. I look forward to reading all of this and gaining some much needed knowledge on the topic.
    Thank you!

  10. Amy Anderson February 17, 2015 at 5:06 am #

    Hello Dr. Ben, I recently found out I am compound heterozygous for MTHFR, and in addition have several other mutations affecting methylation:

    VDR Bsm rs1544410 TT +/+ (homozygous)

    MAO A R297R rs6323 TT +/+ (homozygous)

    MTRR A66G rs1801394 AG +/- (heterozygous)

    MTRR A664A rs1802059 AG +/- (heterozygous)

    I’ve been living on SSDI (less than $1,000/month) for over 20 years with Fibromyalgia Syndrome and am unable to afford a personal consultation. I’m hoping this is not too complex a scenario, and wondering which supplement(s) would be most effective for this profile.

    I’m planning to order L-5-MTH in some form but want to make sure these other mutations won’t cause problems with that, and to find out if any of them can be aided by other supplements.

    Thank you for all that you’re doing for people like us!

    Amy

    P.S. I’ve had S.A.D. for years (if I don’t get enough sun in the summer I can be depressed also) but I’ve done much better the past few years by getting sun or outdoor light every morning for 45 minutes, and taking Vit. D3, a B-Complex and Vit. C daily. I’ve also been taking St. Johns Wort for years; I take a capsule in the morning and another in the afternoon, and take An Shen Ding Zhe Wan (SP?), a Chinese herbal combination for sleep, at night. So I need to be sure there isn’t any problem with these where new supplements are concerned.

    I also had to quit drinking alcohol completely a few years ago; I was never a heavy drinker but even 1/4 glass of wine was causing me to get only 5 hours of sleep and feel terrible the next day, and to end up in a black mood for a few days.

  11. Amy Anderson February 17, 2015 at 5:07 am #

    Forgot to click “notify me by email.”

  12. Jacqueline Greenfield ND March 18, 2015 at 7:57 am #

    In your MTHFR Screening Blog: “Given the prevalence of the MTHFR mutations, over 50% for heterozygous A1298C (need source – saw it recently),”

    Here is one research article:
    “The prevalence of heterozygous genotype 1298AC among
    Caucasians in the United States was 47%, and that of the
    homozygous 1298AAmutant allele was 7.9%”
    Boris et al. Association of MTHFR gene variants with autism. http://www.jpands.org/vol9no4/boris.pdf

    FYI
    Having heterozygous in both polymorphisms increases risk of CML: http://aje.oxfordjournals.org/content/157/7/571.full.pdf+html

  13. JUDY June 7, 2015 at 5:17 pm #

    Hi Dr. Ben.
    As much as I read your comments (most of my time now….). I am HUGELY!! Impressed by your deep knowledge and devotion to this “cause”. The clear and simple way you explain relevant issues, (almost like a Rx.) Which is So-so important in this Complicated and Multi-multi diminutions story. Thanks!!! Judy

  14. Cynthia Campbell August 2, 2015 at 6:20 pm #

    My doctor did order test for me and my 3 daughters who are suffering many autoimmune disorders. I have exceptional insurance that will pay if doctors follow procedures. Which is to get the MTHFR lab pre certified which all that requires is a Letter of Medical necessity. However, my doctor does not do insurance. So I have no help in getting one. Does anyone have a sample letter they could share with me. My doctor will sign and send in. We have been diagnosed with several
    Unspec Viatmin D Deficiency 268.9
    Iron Deficiency Anemia, Unspecified 268.9
    Unspec Acquired Hypothyroidism 244.9
    Impaired Fasting Glucose 790.6 and hyperhomocysteinemia . any help greatly appreciated

  15. Patricia August 28, 2015 at 8:02 pm #

    Dr Ben I had a Fitgenes profile DNA test.. Results MTHFR-1 Orange dot = low enzyme acitivity and decreased levels of the active form of folate

    MTHFR-2 green dot = ok functioning
    MTR red dot =low enzyme activity which can result in high homocysteine
    MTRR red dot = as above
    COMT red dot = over activity or underactivity impact on mental health
    CBS red dot = least beneficial

    I have strong +ve FHx cardiovascular disease. Im on Rx for BP – statin and CCB just introduced due to results of my cardio genes. MHx CFS.Fibro.Hypertension.sub-clinical Hypothyroidism Kryptopyrrole disorder

    On review of the fitgenes results my Dr started me on SAMe NAC and DIM
    SAMe stopped at 8 wks due to initial irritability then ongoing low mood. Started 50mg Nicotinic acid felt better rapidly.

    Im confused re my COMT Am I slow COMT hence excess Methyl or fast COMT

    I thought I read in one of your articles to try 5MTHF before SAMe.

    Supplements I take P5P Zn Mg for Pyrrole disorder Vit C DIM for estrogen as FHx breast Ca – NAC CoQ10 when started statin- Niacin shld I keep taking this? B complex and shld I intro B2?

    What next?? My GP is a Functional Medicine Practitioner and very committed and recommends you. Shld I be trying to intro Methyl B12 and 5MTHF? or will these give me same issues as SAMe?

    Thank you

  16. Deborah December 31, 2015 at 4:28 pm #

    Dr Ben,
    I had Cervical Cancer 91, some kind of strong @$$ by mouth medication afterwards that caused hallucinations after 9th daily dose, then 6 months later developed MS like symptoms but after 2 years no brain lesions and everything normal except inflammation of unknown origin, so let’s call it Fibromyalgia. Since then almost every Fibromyalgia symptom, I even get them years before it’s official. Uterine Cancer 99 with a staph infection in my surgical wound for 7 months, compliments the hospital. Then I went to a Fibromyalgia Pain Specialist who treated my trigger points with weekly steroid injections. The moral of this story is I went from a vibrant type A person coping well to $#!t, a total mental and physical breakdown in 2004.

    I am totally disabled since 2007, your list up there reads like a grocery list. But I have been treated like a mental case for long by so many even though my body does some crazy, crazy things and some right before there eyes. Try faking muscle spasms so bad they push the acupuncture needles out your back. Neat trick! I am just afraid to approach. I mean Cancer myself, extensive family cancer history, IBS, Fibromyalgia (ROFL I really call it “They don’t know what the bleep I have Syndrome”) Mood Swings, drug sensitivities especially antibiotics make me very ill, but who will listen? If I put my big girl panties on where do I start? And can you be so far down the tubes that it’s just all in vain?

  17. Cheryl Randall February 17, 2016 at 11:15 pm #

    Both daughters tested positive for heterozygous mthfr mutation. I don’t know the proper terminology, but their doctors both recommended that I be tested to be able to start preventive steps against health issues for me in the future. Several problems listed exist on both side of my family medical history. Also interested in testing for vitamin/mineral/hormone deficiencies. What are the tests I should ask for, and how do I find out cpt codes to check for coverage with my insurance?

  18. Katie August 18, 2016 at 6:42 pm #

    Hi there. I am just beginning my MTHFR mutation journey, as I found out yesterday I have a “single copy of C677T.” I have had two consecutive pregnancies carrying a child with Down syndrome, and we recently lost the second in utero at 13w. Neither my OB not my RE is concerned about this test result. I had to practically beg that it be done. Today my RE offered me an rx of Folgard (we plan to begin IVF within my next two cycles – with preimplantation genetic screening). However, I declined as I don’t see how high doses of folic acid are at all beneficial for me. No one seems to be taking this seriously, since it’s a single copy (OB) and not “even a relevant test anymore” (RE). Are they right? Or is my gut right, that this undeniably contributed to the chromosomal issues in my last two pregnancies? If I’m right, what do I do? I’ve been on a PNV with methyfolate in it since mid June, but saw this morning that my other B supplement that I’ve been taking since February is chock full of folic acid. I’m obviously not taking that anymore, but how do I know if it has canceled out my good vitamin all this time? How long should it take for my folate stores to be optimal, for our best chances at having a healthy egg before diving into expensive IVF treatments? Thank you so much in advance for your time.

    • Dr Lynch August 26, 2016 at 12:14 am #

      Hi Katie –

      I hear you. Unfortunately it’s a common issue that people think MTHFR is a non-issue.

      They need to read the research and read the comments here – and talk with all the health professionals I’ve talked with and trained.

      MTHFR is a real issue and should be addressed.

      Yes – one copy of MTHFR C677T is not that serious but in your case – with your history – it is showing it certainly a possible issue.

      Please read this:
      http://mthfr.net/prenatal-supplementation-optimizing-your-future-child/2012/01/20/

      The folic acid will go away in time – you can also watch this video:
      https://www.youtube.com/watch?v=cWFPRI6X7P4

      I’d work on the nutrition side of things for a few months – with a naturopathic physician or integrative doctor. You need someone who is knowledgeable about nutrition.

  19. Heather Rozelle November 22, 2016 at 11:22 pm #

    I saw where you told a mother that being compound heterozygous is serious. Why exactly is that? I too am compound heterozygous.
    Until last year my symptoms were chronic fatigue and food sensitivities with the occasional migraine. Then I began having bouts of loss of balance, confusion, feeling like cotton was stuffed in my head, and longer lasting migraines. Then a few months later I suddenly lost my ability to walk independently. Short time later I began having seizures and tremors.
    To this day I require assistance to get around – whether wheelchair, walker, or cane. And my food sensitivities got alot worse.
    Do you think these are connected to being compound heterozygous?

    • Dr Lynch December 3, 2016 at 4:08 am #

      Hi Heather. MTHFR compound heterozygous adds to the potential risk of issues but does not necessitate them. Given that you are struggling with some symptoms, it may be compounding them, yes.

      However, given that this happened fairly quickly, I’d consider an environmental exposure or infection or deficiency or excess of something.

      Please suss out with your healthcare professional.

      Working with a health professional found at http://www.seekinghealth.org could be quite beneficial for you.

      Things like liposomal glutathione, PQQ, SOD, TPP are all nutrients which are very important neurologically – as is phosphatidylcholine. All may be found at http://www.seekinghealth.com

      Consider working remotely – via online consult – with Dr Bernarda Zenker, MD

  20. Judith Aguilar January 30, 2017 at 8:10 pm #

    ES posible conseguir este tipo de estudios en México? Gracias Dr Lynch

  21. Amanda May 17, 2017 at 9:20 pm #

    So, it wasn’t listed…but what about someone with chiari malformation, syringomyelia, fibromyalgia, chronic fatigue, anxiety disorder, and depression secondary to chronic illesses, degenerative disk disease, spinal stenosis, and suspected MCAD, EDS, and POTS???

    Are any of THOSE medical necessity for a physician to look for MTHFR? I mean…I already had a skin biopsy sent to a gene testing facility for EDS testing, the WRONG panel was ordered, and I was pronounced EDS free…sort of. The testing facility refuses to agree with the statement because 10 OTHER types of EDS weren’t looked at…just 4 of the 14 the place tested for.

    I am DESPERATE to know for sure what is happening to me. I developed scoliosis 4 years post decompression and NO ONE with a MD after their name can tell me WHY. Other chiari patients tell me scoliosis development POST chiari decompression is 100% caused by Ehlers-Danlos Syndrome.

    I need HELP. These people are going to KILL me, and my children. I KNEW my daughter was born with chiari and her herniation was BAD but it took me 2 years and 3 pediatricians before one would LOOK. She had it…her herniation measurement was 3 times WORSE than mine was.

    Still…I get PUSH BACK like I am a MORON.

    I need HELP, I need options of testing for these things that EXCLUDE needing a MD to sign off on them. THEY are the only thing holding up these answers, and…it seems SO wrong. You’d think THEY would want to know what they are dealing with as much as me. Nope. Nada.

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