Jump to content
  • 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:
    Support Our Content
    eNewsletter
    Donate

What Does The Gene Test Mean?


paperbagprincess

Recommended Posts

paperbagprincess Rookie

My Mum and Uncle both have had positive blood tests then positive biopsy. I had the blood test done which was normal and gene test was positive. I was having stomach problems and b12 and foliate deficiencies (b12 injections and foliate tablets did nothing) . I'm a chicken and I was moving cities, so I decided I would trial a gluten free diet to see if it helps. That was 4 years ago, my b12 and foliate are normal. My GP and dietitian said that they thought I definitely had some damage to the villi because of the way my deficiencies went normal.

I'm just wonder, does anyone know any good websites that explain the gene test? Or any experience with it being positive, but negative Celiac test. My GP (who ran the test 4 years ago) said people with this positive gene are more likely to develop celiac disease and are more likely to be sensitive to gluten.

Thanks.


Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):



Celiac.com Sponsor (A8-M):



adab8ca Enthusiast

My Mum and Uncle both have had positive blood tests then positive biopsy. I had the blood test done which was normal and gene test was positive. I was having stomach problems and b12 and foliate deficiencies (b12 injections and foliate tablets did nothing) . I'm a chicken and I was moving cities, so I decided I would trial a gluten free diet to see if it helps. That was 4 years ago, my b12 and foliate are normal. My GP and dietitian said that they thought I definitely had some damage to the villi because of the way my deficiencies went normal.

I'm just wonder, does anyone know any good websites that explain the gene test? Or any experience with it being positive, but negative Celiac test. My GP (who ran the test 4 years ago) said people with this positive gene are more likely to develop celiac disease and are more likely to be sensitive to gluten.

Thanks.

In short, blood tests can often have false negatives. Your GP is correct about the gene test in that if you have the gene, you can develop celiac but won't necessarily. If you have the genes, close relatives with celiac, symptoms of celiac (vitamin deficiencies likw B12 and folate) which resolve on a gluten-free diet, then chances are you have celiac.

beachbirdie Contributor

My Mum and Uncle both have had positive blood tests then positive biopsy. I had the blood test done which was normal and gene test was positive. I was having stomach problems and b12 and foliate deficiencies (b12 injections and foliate tablets did nothing) . I'm a chicken and I was moving cities, so I decided I would trial a gluten free diet to see if it helps. That was 4 years ago, my b12 and foliate are normal. My GP and dietitian said that they thought I definitely had some damage to the villi because of the way my deficiencies went normal.

I'm just wonder, does anyone know any good websites that explain the gene test? Or any experience with it being positive, but negative Celiac test. My GP (who ran the test 4 years ago) said people with this positive gene are more likely to develop celiac disease and are more likely to be sensitive to gluten.

Thanks.

Did they tell you whichgenes you had? There is such an array of them.

You can read some about the genes Open Original Shared Link, and in the table that is about halfway down the page you can click links to each separate DQ type.

The presence of the gene does not confirm a diagnosis, but it does point to a genetic predisposition to getting celiac. Your family history and positive response to being gluten free tell you a LOT. Sounds like healthy choice for you.

beachbirdie

Mari Contributor

I have found the Wikipedia articles easiest to understand search for HLA-DQ). The genetic marker tests - HLA-DQ reports list the results as the marker numbers. www.Enterolab.com only gives the results for the HLA-DQ B but other labs report the marker number of the HLA-DQ A and B. The A and B are subunits or alleles of the HLA DQ gene. We inherit one DQ gene from each parent, an A and a B. The report usually states whether a person has one or two main celiac markers.

An older test done by serology tests for the shape of the antigen binding site. Drs often prefer to use the terminology of this test. The Wiki article will tell you how to figure out how to tell whether you have a DQ1 thru DQ8 or DQ9 and there are individual articles for each HLA-DQ class.

My Enterolab results (DNA assay)

HLA DQ B 0302

HLA DQ B 0602

The 0302 is a main Celiac marker (often referred to as a gene)

The 0602 is a marker that put me at risk for developing non-celiac sprue ( a Leaky Gut Syndrome, not autoimmune)

The older terminology:

The 0302 translates to a HLA-DQ8

The 0602 translates to a HLA-DQ6

kledford Rookie

I have heard that there is an at home DNA "genetic" test that you can order, swab and send off for results and the cost is reasonable......I will try to get the name and post it for you. I have not used it myself but have considered it for my children to rule out celiac....their blood tests were negative at this time but I would like to know if they carry the gene instead of testing every couple of years.

kledford Rookie

www.cyrexlabs.com is one website I have read about on this forum....as well as Open Original Shared Link which i believe is affiliated via The University of Chicago.

paperbagprincess Rookie

Thanks everyone. I live in New Zealand so that sending the swab away thing is probably not available here. I'm not sure which of the gene tests I had done, the doctor just said it was positive. Thanks everyone.


Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):



Celiac.com Sponsor (A8-M):



Archived

This topic is now archived and is closed to further replies.


  • Celiac.com Sponsor (A19):



  • Member Statistics

    • Total Members
      131,561
    • Most Online (within 30 mins)
      7,748

    lamps
    Newest Member
    lamps
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      121.4k
    • Total Posts
      1m

  • Celiac.com Sponsor (A22):





  • Celiac.com Sponsor (A21):



  • Upcoming Events

  • Posts

    • petitojou
      Thank you so much for sharing your experience and I found myself giggling with happiness as I read how your body reached such spring! And I hope that your current journey is also successful!! Definitely starting the food diary! So many amazing advices. And it’s very scary. It really hits all our soft spots as well as our confidence system. Most doctors I went thought I was underage despite being in my late 20s. Right now I look like am I twelve, but is also this body that’s taking so much, so I might as well love it too! Going to make the necessary changes and stay in this path. Thank you again! 🫶
    • petitojou
      Thank you so much for the information and kind message! Reading this transformed how I’ve been viewing my efforts and progress. Guess there’s still a lot to celebrate and also heal 😌  Yes, I’ve been taking it! Just recently started taking a multivitamin supplement and separated vitamin D! I also took chewable Iron polymaltose for ferritin deficiency 2 months ago but was unable to absorb any of it.  Thank you again! Hearing such gentle words from the community makes my body and heart more patient and excited for the future. 
    • ckeyser88
      I am looking for a roomie in Chicago, Denver or Nashville! 
    • Scott Adams
      Your post demonstrates the profound frustration and isolation that so many in the Celiac community feel, and I want to thank you for channeling that experience into advocacy. The medical gaslighting you endured for decades is an unacceptable and, sadly, a common story, and the fact that you now have to "school" your own GI specialist speaks volumes about the critical lack of consistent and updated education. Your idea to make Celiac Disease a reportable condition to public health authorities is a compelling and strategic one. This single action would force the system to formally acknowledge the prevalence and seriousness of the disease, creating a concrete dataset that could drive better research funding, shape medical school curricula, and validate the patient experience in a way that individual stories alone often cannot. It is an uphill battle, but contacting representatives, as you have done with Adam Gray, is exactly how change begins. By framing it as a public health necessity—a matter of patient safety and protection from misdiagnosis and neglect—you are building a powerful case. Your voice and your perseverance, forged through thirty years of struggle, are exactly what this community needs to ensure that no one else has to fight so hard just to be believed and properly cared for.
    • Scott Adams
      I had no idea there is a "Louisville" in Colorado!😉 I thought it was a typo because I always think of the Kentucky city--but good luck!
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.