Jump to content
This site uses cookies. Continued use is acceptance of our Terms of Use and Privacy Policy. More Info... ×
  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.




  • Celiac.com Sponsor (A1):



    Celiac.com Sponsor (A1-M):


  • Get Celiac.com Updates:
    Help Celiac.com:
    eNewsletter
    Donate
  • Dr. Scot Lewey
    Dr. Scot Lewey

    Ten Facts About Celiac Disease Genetic Testing

    Reviewed and edited by a celiac disease expert.

    Celiac disease is arguably the most common autoimmune disease. It is very common. It is easily treated. It affects 1/100 people worldwide.

    Ten Facts About Celiac Disease Genetic Testing - Image: CC--Stuart Caie
    Caption: Image: CC--Stuart Caie

    Celiac.com 04/16/2019 (originally published 04/24/2008) - Genetic tests for celiac disease and gluten sensitivity are readily available. Testing can be performed on either blood and mouth swab samples. Tests can be done at home and mailed to the lab for analysis.

    A good testing laboratory will provide an accurate prediction of celiac disease risk, and will also provide information about the statistical risk to your children, your likelihood of developing more severe celiac disease, whether one or both of your parents had the risk gene, and for some laboratories, you may determine your risk of gluten sensitivity without celiac disease.

    DQ2 & DQ8 Not the Whole Story

    Celiac.com Sponsor (A12):
    About 95% of celiacs carry HLA-DQ2; while about 25% carry HLA-DQ8. If any part of the high risk gene patterns DQ2 and DQ8 is missing, then the likelihood of that person getting celiac disease is 99.9% AGAINST. 

    Negative Genetic Test Only Part of the Story

    However, "negative celiac genetic testing” is not sufficient for entirely ruling out celiac disease. To definitively declare negative celiac genetic tests requires the laboratory to test for the presence or absence of the entire HLA DQ genetic pattern, including both alpha and beta subunits.

    The DQ genetic patterns DQ2 and DQ8 have two subunits, but many laboratories only test for the beta subunit. Few labs test for both. This DQ typing is complicated and difficult to understand even by physicians and scientists. I have written an updated detailed review that appears in the Spring 2008 issue of Scott-Free newsletter published by celiac.com.

    No DQ2 & DQ8 Can Still Mean Gluten Problems

    Data collected by Dr. Ken Fine of Enterolab supports the fact that the absence of DQ2 and DQ8 does not exclude the risk of being gluten intolerance or sensitive, though it is now looks likely that one or both of those genetic white blood cell patterns are required for celiac disease or celiac sprue to develop. 

    However, there is a new study that reports that being negative for DQ2 and DQ8 does not completely exclude the possibility of celiac disease, especially in men. 

    Previous studies have documented blood test negative celiac sprue, which is also more common in elderly men with long-standing severe disease. 

    Since DQ2 or DQ8 is almost universally present where tissue transglutaminase and anti-endomysial antibodies are present it is not surprising that individuals without DQ2 or DQ8 with negative blood tests are being reported that meet criteria for celiac disease.

    These new studies are also providing further information that the genetics of celiac is gender specific. If you are a man, your risk of celiac disease may be higher than a woman if you don't have the classic genetic patterns. Again, in this situation your blood tests may be negative. If you are a woman, the risk for Celiac disease is generally higher than a man, especially if you have received the at risk gene from your father instead of your mother.

    Celiac disease is arguably the most common autoimmune disease. It is very common. It is easily treated. It affects 1/100 people worldwide. However, most people with celiac disease (~90%) are unaware, undiagnosed or misdiagnosed. 

    Most adults finally diagnosed with celiac disease have suffered at least 10-11 years, and have seen 3 or more doctors. Genetic testing can be extremely helpful in determining your risk for celiac disease, potential severity, and risk for family members. Don't be one of those whose diagnosis is missed or needlessly delayed for over a decade. Get tested! Learn about the genetic tests for celiac disease and if necessary educate your doctor about this testing.

    Important Facts About Celiac Disease:

    Genetic Testing Can Determine Celiac Risk

    Celiac genetic tests can be done on blood or a mouth swab sample but your doctor may be unaware of the tests, not know how to order them, or know how to interpret the results.

    Diet Will Not Change Genetic Test Results

    Genetic testing is not affected by diet. You can be eating gluten or on a gluten-free diet. Unlike blood tests for celiac disease antibodies, which require a patient to be eating gluten, genetic tests can be done whether or not the person being tested is eating wheat or gluten. 

    Diagnostic Codes Can Help Secure Insurance Approval

    Many insurance companies pay for celiac genetic testing. Most that pay require pre-authorization. The following diagnostic codes are helpful when requesting insurance coverage: 579.0 (celiac disease); V18.59 (family history of GI disease); and/or V84.89 (genetic susceptibility to disease).

    Some Genetic Labs Perform Limited Tests

    Many laboratories do not perform the all of the necessary components of the test to completely exclude the possible genetic risk of celiac disease and most don't test for or report the other gluten sensitive DQ patterns. Before you accept that have a negative test you need to know if your test included both the alpha and beta subunits of HLA DQ or did they just perform the beta typing.

    Negative Results Can Still Mean Celiac in Rare Cases

    In rare cases, some people, especially men, may have a negative genetic test and still have celiac disease. As with blood tests, men more commonly have negative genetic tests, especially older men with long-standing severe disease.

    DQ Type Can Influence Celiac Risk and Severity

    Both the DQ type, and number of copies you have, matter when determining not only your risk, but also the possible severity of celiac disease. Two copies of DQ2 carries more risk than one copy of DQ8 or only partial DQ2. Even a single copy of DQ2 alpha subunit ("half DQ2 positive") carries risk for celiac disease, but most of the commonly used laboratories for Celiac genetics do not test for or report the presence of this component of the celiac genes.

    Negative DQ2 and DQ8 Can Still Mean Gluten Intolerance

    The absence of at risk genes DQ2 and/or DQ8 does not exclude the possibility of being gluten intolerant or sensitive. You may respond to a gluten free diet, even if you don't have DQ2 or DQ8, or true autoimmune celiac disease.

    No Prescription Needed for Genetic Celiac Testing

    You can get genetic testing without a doctor's order and the tests can be done without having blood drawn or insurance authorization if you are willing to pay between $99-300 (www.enterolab.com).

    Genetic Testing Labs for Celiac Disease

    Laboratories in the U.S. that are known to offer complete alpha and beta subunit genetic testing include Kimball Genetics, Prometheus, and LabCorp. Bonfils, Quest and Enterolab only test for the beta subunit portions and therefore their test can miss part of a minor alpha subunit that carries a risk of celiac disease. A negative DQ2 and DQ8 report from these labs may not necessarily be truly negative for the risk of celiac disease.

    Celiac Genetic Testing References and Resources:

     



    User Feedback

    Recommended Comments



    Guest Ann Stewart

    Posted

    Great info .........I never knew... always thought you had to have the intrusive biopsy test.

    Link to comment
    Share on other sites
    Guest Frances l Garcia,MD

    Posted

    Excellent: it explains why I am a severe celiac and yet am negative for the antibodies. I am a woman, northern European, Hispanic and Middle Eastern ethnicity and no previous known family history. My sons have tested negative for tTg and . My brother is negative for the tTg and antiendomyasial antibodies but has severe osteoporosis at 45 years of age, without any known risk factors. We need to do genetic testing!!

    Link to comment
    Share on other sites
    Guest Carina

    Posted

    Thank you. I need to get my kids tested, and I feel better knowing these things before I go in.

    Link to comment
    Share on other sites
    Guest Carri

    Posted

    Wow, very comprehensive yet easy to understand the 'genetics lingo.'

    Link to comment
    Share on other sites
    Guest sharon mackey

    Posted

    I had seven endoscopies done only 2 of them with same doctor---rest all different--celiac came back negative--also blood test---I finally found a celiac doctor whom my daughter recommended--she also has celiac disease--she did a cheek swap and sure enough I have celiac disease and have had it for a few years. I started having stomach problems and had a hernia and a sphincter that didn't close--so this was the problem with my severe bile reflux and gerd. I developed scurvy a year before that and it took 3 months for doctors and a specialist to try and find out what it was. I had it very badly on my whole right leg. Discolored-blood collections under the skin---the hundreds of red dots-due to very low platelets- All of the symptoms I had visible and not and no one put it together. I kept suggesting it was a problem with malnutrition but no one listened. My stomach and throat were raw. Had all kinds of tests done---finally my oncologist told me to have a leg biopsy done and sure enough it came back as scurvy. A lot of damage was done to my digestive system. Also had my gallbladder removed-had a small stone--they thought this might have been the source of the reflux --I ended up with worse reflux. It took me 2 years to find a surgeon to do the fundoplication--I am a high risk patient--allergic to many, many,drugs---pump prohibitors gave me seizures-so I am unable to take anything for the gerd. thought all would end there--I still have reflux severely---weigh 93 pounds with many food allergies--casein, yeast all dairy and it goes on----no rice-my blood counts and platelets are always bad--high calcium--cysts now found on my thyroid and most probe my parathyroid glands--didn't show any if the x-rays but I have all the symtoms-kidney stone--I only have one kidney--donated the other to my sister in 1968. I live in pain every day--trying to cope---your articles help me a lot. Thank you.

    Link to comment
    Share on other sites
    Guest European lady

    Posted

    I am a Northern European lady and have family history of gluten sensitivity, I am gluten sensitive but do not have DQ2 OR DQ8 AND had one doctor at Mayo clinic telling me that it is 100% certain that I can't have Celiac disease.

    A gluten-free diet put my intestinal symptoms on the right track.

    Link to comment
    Share on other sites
    Guest Mimi

    Posted

    Thank you for a novice friendly explanation of the genetic testing for celiac disease. I did not know about the alpha and beta-I only had one done.

    Link to comment
    Share on other sites
    Guest Linda Hays

    Posted

    It was very good and informative.

    Link to comment
    Share on other sites
    Guest Jean

    Posted

    Thank you for this article. It confirms suspicions that I had about family members in my family who probably have the disease and refuse to consider it. All members that I'm referring to have diabetes.

    Link to comment
    Share on other sites
    Guest LENA

    Posted

    I have a few concerns, I had a biopsy done in 10/08 and it tested negative for celiac disorder. However 7 months later I'm still having the same symptoms and now my doctor is saying that's not a guarantee (the biopsy) and there treating me as if I do have celiac now.

    Link to comment
    Share on other sites
    Guest julie

    Posted

    Could you please provide some theories as to why older men who test negative for the celiac risk gene can actually have celiac.

    Link to comment
    Share on other sites
    Guest disillusioned

    Posted

    Thanks a lot. I was going to go with Enterolab until I read this article. Now I plan on testing with Kimball or Labcorp. However, I couldn't find any info on Kimball or Labcorp's websites which mentions alpha and beta subunit genetic testing. Are you sure they still offer this? Has anyone else here gotten these tests done?

    Link to comment
    Share on other sites



    Create an account or sign in to comment

    You need to be a member in order to leave a comment

    Create an account

    Sign up for a new account in our community. It's easy!

    Register a new account

    Sign in

    Already have an account? Sign in here.

    Sign In Now

  • Get Celiac.com Updates:
    Help Celiac.com:
    Donate
  • About Me

    Dr. Scot Lewey

    A practicing gastroenterologist in direct patient care but who also participates in teaching medical students and physicians in training as a Clinical Professor of Medicine at Rocky Vista University College of Osteopathic Medicine and at Kansas City University of Medicine and Biosciences. In addition to authoring peer review articles, book chapters and presenting clinical research Dr. Lewey has conducted, he has authored over 50 online articles, numerous blog posts and tweets about digestive and food related issues. As a physician who is a fellow of six professional societies Dr. Lewey serves at a national level on several committees, as a reviewer for journal articles and case reports, a media representative for the AOA Media and ACG on digestive health and disease and has been featured in various print, television, podcast and online media publications about digestive issues. As a expert in digestive diseases Dr. Lewey is also a medical legal consultant and expert witness. Dr. Lewey can be reached at Facebook.com/thefooddoc, on twitter @thefoodgutdoc and his blog www.thefooddoc.blogspot.com.


  • Celiac.com Sponsor (A17):
    Celiac.com Sponsor (A17):





    Celiac.com Sponsors (A17-M):




  • Related Articles

    Dr. Scot Lewey
    Celiac.com 08/31/2006 - All of us have patterns of proteins on the surface of our white blood cells. These proteins are known as human leukocyte antigens (HLA), one of which is DQ. Celiac disease and non-celiac gluten sensitivity (NCGS), and several autoimmune conditions occur more frequently with certain HLA DQ types. DQ gene testing is performed by analyzing cells from a blood sample or from a Q-tip swab of the mouth. HLA types have a naming system that can be confusing even to scientists and physicians but here is my explanation of the testing, the results, and what they may mean to you and your family.
    Each of us has two copies of HLA DQ. Because there are 9 serotypes of DQ we are all DQx/DQx where x is a number between 1 & 9. For example, I am DQ2/DQ7. I received the...


    Dr. Scot Lewey
    This article appeared in the Spring 2008 edition of Open Original Shared Link.
    Celiac.com 08/17/2008 - Are you confused about genetic testing for celiac disease? Do you want to know what tests you should request and which laboratory to use?  Have you already had celiac DQ genetic testing but are not sure what the results mean or what your risk is of developing celiac disease or gluten sensitivity? These are the questions I will answer in the next few pages. 
    What is HLA DQ celiac genetic testing?
    To understand celiac DQ genetics and the risk estimates you must also understand how the DQ types are determined and some basic terminology.  Each of us has 46 chromosomes, 23 pairs received from our parents.  We all have two copies of chromosome 6, one from each parent.  Homozygous is w...


    Celiac.com Sponsor: Review
    Celiac.com 04/24/2014 - Do you have the genetic markers for celiac disease?  This product will provide you with a definitive answer.  
    The Glutenpro Celiac Genesure Genetic Test tests for the presence of the HLA DQ2 and HLA DQ8 genotypes.   A positive test means you are at risk for the disease, but it does not necessarily mean you will develop it.  A negative result means you do not have celiac disease and can never develop it. 
    According to Glutenpro, those who have a family history of celiac, Type 1 diabetes or Downs Syndrome and get lab tests done for celiac disease on a regular basis will no longer have to do this, should their genetic test be negative. 
    Taking this test is super easy.  After your kit arrives in the mail all you do is swab the inside of your...


    Jefferson Adams
    Celiac.com 03/02/2016 - A team of researchers recently completed the first extensive study comparing gene expression in children and adults with celiac disease, and found some key differences between the two groups.
    The research team included V. Pascual, L. M. Medrano , N. López-Palacios, A. Bodas, B. Dema, M. Fernández-Arquero, B. González-Pérez, I. Salazar, and C. Núñez. They are variously affiliated with Servicio de Pediatría, Servicio de Aparato Digestivo, and Servicio de Inmunología Clínica at the Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain, and with the Departamento de Producción Animal, Facultad de Veterinaria, and the Departamento de Estadística e Investigación Operativa I, Facultad de Matemáticas, Universidad Complutense de Madrid in M...


  • Recent Activity

    1. - CatherineWang replied to B1rdL0ver's topic in Related Issues & Disorders
      40

      Dealing with constant nausea and just feeling awful.

    2. - cristiana replied to BunnyBrown's topic in Related Issues & Disorders
      3

      Recently had my esophagus dilated

    3. - cristiana replied to twe0708's topic in Post Diagnosis, Recovery & Treatment of Celiac Disease
      54

      How Long Do Celiac Patients Live?

    4. - Exchange Students replied to Exchange Students's topic in Parents, Friends and Loved Ones of Celiacs
      2

      Exchange Students who are celiac in need of host

    5. - Scott Adams replied to Exchange Students's topic in Parents, Friends and Loved Ones of Celiacs
      2

      Exchange Students who are celiac in need of host


  • Celiac.com Sponsor (A19):



  • Member Statistics

    • Total Members
      120,156
    • Most Online (within 30 mins)
      7,748

    Lisa Pieterse
    Newest Member
    Lisa Pieterse
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      120.2k
    • Total Posts
      1m

  • Celiac.com Sponsor (A22):





  • Celiac.com Sponsor (A21):



  • Popular Now

    • Sunflowers06
      6
    • Momkaren
      10
    • Elizabeth M Blair
      5
    • B1rdL0ver
    • twe0708
      54
  • Popular Articles

    • Scott Adams
    • Scott Adams
    • Scott Adams
    • Scott Adams
    • Scott Adams
  • Upcoming Events

×
×
  • Create New...