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

Genetic Testing

Glutenfree4LJS

Recommended Posts

Glutenfree4LJS Newbie
Glutenfree4LJS
Posted

Hi everyone! I was wondering if anyone on here has any experience with celiac genetic testing. I have a 4 year old who was diagnosed with celiac at 2 he is now 4. He's doing amazing! Since then we have had a daughter who is 3 mos. old. I'm considering testing to see if she has the genetic predisposition to be a celiac as well before she is old enough to start on solid food. I figure that if she does have the genetic markers we can have a heads up and if not then we know she can have gluten and be fine. any tips or info. will be helpful. I noticed that there are a few companies out there that do this testing without a doctors order. Is that a reliable way to go?

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

Celiac.com Sponsor (A8-M):


Skylark Collaborator
Skylark
Posted

If you can't get the testing covered under insurance, the companies where you pay will all execute the test correctly. The question is what information you're looking for. Enterolab does B-chain only. They give you all the results but you won't know for sure about DQA*0505. Kimball and Prometheus test for celiac-specific alleles including some DQA chains like *0505 but I don't think they give you any info on the non-celiac genes.

StephanieL Enthusiast
StephanieL
Posted

We were advised not to bother with the genetic test by our gastro Dr. DS has Celiac and the genes. We (DH and I) are his parents and are the parents of his two sibs. She said the chance of them NOT having the genetics is pretty low. I didn't ask %'s but I tend to agree.

Jestgar Rising Star
Jestgar
Posted

What would be the point? There's no single identified gene that causes celiac disease or gluten intolerance, and of the known genes that are associated with celiac disease, they are just that, associated. Having the genes doesn't mean you'll get the disorder, and not having the genes doesn't mean you won't get the disorder.

mommida Enthusiast
mommida
Posted

My husband and I went for some genetic counseling before we had kids. There seemed to be a lot of heart problems in the family, and some blood disorders, some auto-immune diseases. It was a waste of time. There are no pre-answers, we didn't even know about Celiac in the family. (Found out years later when I asked a cousin to tell me all of her deceased mother's health issues she could remember. She described Celiac but the doctors never told her the name of the disease.)

If I had decided not to have kids, I would have missed a lot of joy in my life. I would have missed a love that grows every day and makes me strive to be a better person. My kids are just kids and they make mistakes, have faults, and have Celiac too. The worst part, it is sometimes like arguing with yourself.

So babies will be born with "the human condition". If you don't think you can accept what little human will come to you if they aren't "perfect", DO NOT even think of being a parent. If you think there is a "test" for parenting, there is. Children will test your patience every day.

Lisa Mentor
Lisa
Posted

So babies will be born with "the human condition". If you don't think you can accept what little human will come to you if they aren't "perfect", DO NOT even think of being a parent. If you think there is a "test" for parenting, there is. Children will test your patience every day.

:) So very well said! (big smile on my face)

salexander421 Enthusiast
salexander421
Posted

Hi everyone! I was wondering if anyone on here has any experience with celiac genetic testing. I have a 4 year old who was diagnosed with celiac at 2 he is now 4. He's doing amazing! Since then we have had a daughter who is 3 mos. old. I'm considering testing to see if she has the genetic predisposition to be a celiac as well before she is old enough to start on solid food. I figure that if she does have the genetic markers we can have a heads up and if not then we know she can have gluten and be fine. any tips or info. will be helpful. I noticed that there are a few companies out there that do this testing without a doctors order. Is that a reliable way to go?

I think if I were in your shoes I would have the genetic testing done. Having a brother with celiac does put her in a higher risk category, I think she has something like a 1 in 22 chance of having celiac or something like that. But if for some reason she doesn't carry the DQ2 or DQ8 gene then she would have a very low chance of having celiac. You can't really rule it in or out with the genetic test but it can be a helpful piece of info for some people. My daughter had her's done at the GI and insurance covered it. They used labcorp which tests for both the alpha and beta subunits. I did my test through enterolab since my GI would not order it, they only test the beta subunits. There's another lab that you can order it through but they require a doctor's authorization, it's Kimball labs. Hope this helps!

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

Celiac.com Sponsor (A8-M):


salexander421 Enthusiast
salexander421
Posted

If you can't get the testing covered under insurance, the companies where you pay will all execute the test correctly. The question is what information you're looking for. Enterolab does B-chain only. They give you all the results but you won't know for sure about DQA*0505. Kimball and Prometheus test for celiac-specific alleles including some DQA chains like *0505 but I don't think they give you any info on the non-celiac genes.

Is DQA*0505 half of the DQ2 gene? I've heard of people having half the DQ2 gene which carries some risk for celiac but I've been unable to find any info on that. Thanks!

lizard00 Enthusiast
lizard00
Posted

I know for a FACT that my kids possess at least one of the celiac markers. I allow them to eat whatever they want. Personally (and it is my personal opinion :)!) I don't believe they need to be gluten-free because they have a genetic marker for something. It doesn't mean they will ever have celiac. In fact, there is some evidence showing that introducing gluten during a certain time frame actually helps decrease their chances of developing celiac. For the most part, my kids are by default gluten-free because that's the only thing I cook/bake. But they eat sandwiches, etc when they aren't home.

To answer Brendan12, IMO, to not have children because you have a predisposition to celiac is foolish. Maybe if you both carry the markers for cystic fibrosis or something along those lines, I could see it. But I opted not to have all of the screenings for both of my children. To me, it didn't matter. They were already my children, even if they were unborn. I would love them no matter what. And what mommida said is right on point-- the only test is patience!

Skylark Collaborator
Skylark
Posted

Is DQA*0505 half of the DQ2 gene? I've heard of people having half the DQ2 gene which carries some risk for celiac but I've been unable to find any info on that. Thanks!

Right, although "half of DQ2" is a touch misleading. It's the same protein as the *0501 in DQ2.5, but the *0505 gene is inherited with B1*0301 (DQ7) to make DQ7.5. There are a few celiacs with DQ7.5 and no other currently known risk gene like DQ2 or DQ8, so *0505 is considered to confer some small degree of risk. The problem with B-chain only testing is that you are not guaranteed to have *0505 if you're DQ7, especially if you are of Eastern European descent.

maximoo Enthusiast
maximoo
Posted

My DD didn't show any signs till she was 11/12 & stopped growing. She ate wheat all her life prior. As for my 17 yo DS I tested him b/c of his sister & he has high antibodies too. (he also has a mild case of autism which there is a big debate whether celiac & autism are correlated) so as far I know he was symptomless. Anyway, I read/heard that if you have genetic markers its best if you go gluten lite--and since your baby hasn't started solids yet I would say don't give her anything gluten based until she is at least 15 mths old. Then try one thing at a time. Babies don't need wheat based products anyway. So even if you got her genetically tested she might not ever get celiac but since ur DS is gluten-free she would probably eat gluten-free at home anyway. And if she never shows any signs gluten won't bother her when she starts school etc. But you know what to look for & will be right on top it it.

domesticactivist Collaborator
domesticactivist
Posted

Kimball is a division of labcorp and does give all the info. They just send a summary, but once you get it you can call the genetic councilor and they will send the full results.

M0Mto3 Rookie
M0Mto3
Posted

My DD's GI doc told me that 38% of people have the gene that predisposes you to Celiac's. So, that is more than 1/3 people have the gene. That is a huge number compared to the people who actually end up with Celiac's. He would not do the gene testing on DD. My DH has type 1 diabetes, so chance are she has the gene anyway.

salexander421 Enthusiast
salexander421
Posted

I know for a FACT that my kids possess at least one of the celiac markers. I allow them to eat whatever they want. Personally (and it is my personal opinion :)!) I don't believe they need to be gluten-free because they have a genetic marker for something. It doesn't mean they will ever have celiac. In fact, there is some evidence showing that introducing gluten during a certain time frame actually helps decrease their chances of developing celiac. For the most part, my kids are by default gluten-free because that's the only thing I cook/bake. But they eat sandwiches, etc when they aren't home.

I agree, I wouldn't put my children on a gluten free diet just because they have the genetics.

salexander421 Enthusiast
salexander421
Posted

Right, although "half of DQ2" is a touch misleading. It's the same protein as the *0501 in DQ2.5, but the *0505 gene is inherited with B1*0301 (DQ7) to make DQ7.5. There are a few celiacs with DQ7.5 and no other currently known risk gene like DQ2 or DQ8, so *0505 is considered to confer some small degree of risk. The problem with B-chain only testing is that you are not guaranteed to have *0505 if you're DQ7, especially if you are of Eastern European descent.

Thank you! This is the info I've been looking for :)

Archived

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

Go to topic listing

  • Get Celiac.com Updates:
    Support Celiac.com:
    Join eNewsletter
    Donate
  • Celiac.com Sponsor (A17):
    Celiac.com Sponsor (A17):



    Celiac.com Sponsors (A17-M):



  • Recent Activity

    1. GlorietaKaro
      - GlorietaKaro replied to GlorietaKaro's topic in Super Sensitive People
      3

      Am I nuts?

      Thanks to both of you for your responses! Sadly, even after several years of very strict gluten avoidance, I remember the symptoms well enough that I am too frightened to risk a gluten challenge— heartbeat and breathing problems are scary— Scott, thank you for the specific information— I will call around in the new year to see if I can find anyone. In t...
    2. trents
      - trents replied to GlorietaKaro's topic in Super Sensitive People
      3

      Am I nuts?

      Welcome to the celiac.com community, @GlorietaKaro! As Scott indicated, without formal testing for celiac disease, which would require you to have been consuming generous amounts of gluten daily for weeks, it would be not be possible to distinguish whether you have celiac disease or NCGS (Non Celiac Gluten Sensitivity). Their symptoms overlap. The difference...
    3. lalan45
      - lalan45 replied to xxnonamexx's topic in Post Diagnosis, Recovery & Treatment of Celiac Disease
      29

      My journey is it gluten or fiber?

      That’s really frustrating, I’m sorry you went through that. High fiber can definitely cause sudden stomach issues, especially if your body isn’t used to it yet, but accidental gluten exposure can feel similar. Keeping a simple food/symptom journal and introducing new foods one at a time can really help you spot patterns. You’re already doing the right things ...
    4. Russ H
      - Russ H posted a topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms
      0

      Anti-endomysial Antibody (EMA) Testing

      I thought this might be of interest regarding anti-EMA testing. Some labs use donated umbilical cord instead of monkey oesophagus. Some labs just provide a +ve/-ve test result but others provide a grade by testing progressively diluted blood sample. https://www.aesku.com/index.php/ifu-download/1367-ema-instruction-manual-en-1/file Fluorescence-labelled...
    5. Scott Adams
      - Scott Adams replied to JoJo0611's topic in Post Diagnosis, Recovery & Treatment of Celiac Disease
      1

      Just diagnosed today

      First, please know that receiving two diagnoses at once, especially one you've never heard of, is undoubtedly overwhelming. You are not alone in this. Your understanding is correct: both celiac disease and Mesenteric Panniculitis (MP) are considered to have autoimmune components. While having both is not extremely common, they can co-occur, as chronic inflammation...
  • Celiac.com Sponsor (A19):

  • Member Statistics

    • Total Members
      132,806
    • Most Online (within 30 mins)
      7,748
    IleneG
    Newest Member
    IleneG
    Joined
  • Celiac.com Sponsor (A20):
  • Celiac.com Sponsor (A22):

  • Forum Statistics

    • Total Topics
      121.5k
    • Total Posts
      1m
  • Celiac.com Sponsor (A21):

  • Upcoming Events

  • Posts

    • GlorietaKaro
      Am I nuts?

      By GlorietaKaro · Posted

      Thanks to both of you for your responses!  Sadly, even after several years of very strict gluten avoidance, I remember the symptoms well enough that I am too frightened to risk a gluten challenge— heartbeat and breathing problems are scary— Scott, thank you for the specific information— I will call around in the new year to see if I can find anyone. In the meantime, I will carry on has I have been— it’s working! Thanks also for the validation— sometimes I just feel crushed by disbelief. Not enough to make me eat gluten though—
    • trents
      Am I nuts?

      By trents · Posted

      Welcome to the celiac.com community, @GlorietaKaro! As Scott indicated, without formal testing for celiac disease, which would require you to have been consuming generous amounts of gluten daily for weeks, it would be not be possible to distinguish whether you have celiac disease or NCGS (Non Celiac Gluten Sensitivity). Their symptoms overlap. The difference being that celiac disease is an autoimmune disorder that damages the lining of the small bowel. We actually no more about celiac disease than we do about NCGS, the mechanism of the latter being more difficult to classify. There are specific antibody tests for celiac disease diagnosis and there is also the endoscopy/biopsy of the small bowel lining. Currently, there are no tests to diagnose NCGS. Celiac disease must first ruled out. Researchers are working on developing testing methods to diagnose celiac disease that do not require a "gluten challenge" which is just out of the question for so many because it poses serious, even life-threatening, health risks. But we aren't there yet.
    • lalan45
      My journey is it gluten or fiber?

      By lalan45 · Posted

      That’s really frustrating, I’m sorry you went through that. High fiber can definitely cause sudden stomach issues, especially if your body isn’t used to it yet, but accidental gluten exposure can feel similar. Keeping a simple food/symptom journal and introducing new foods one at a time can really help you spot patterns. You’re already doing the right things with cleaning and separating baking—also watch shared toasters, cutting boards, and labels like “may contain.”
    • Russ H
      Anti-endomysial Antibody (EMA) Testing

      By Russ H · Posted

      I thought this might be of interest regarding anti-EMA testing. Some labs use donated umbilical cord instead of monkey oesophagus. Some labs just provide a +ve/-ve test result but others provide a grade by testing progressively diluted blood sample. https://www.aesku.com/index.php/ifu-download/1367-ema-instruction-manual-en-1/file Fluorescence-labelled anti-tTG2 autoantibodies bind to endomysium (the thin layer around muscle fibres) forming a characteristic honeycomb pattern under the microscope - this is highly specific to coeliac disease. The binding site is extracellular tTG2 bound to fibronectin and collagen. Human or monkey derived endomysium is necessary because tTG2 from other mammals does not provide the right binding epitope. https://www.mdpi.com/1422-0067/26/3/1012
    • Scott Adams
      Just diagnosed today

      By Scott Adams · Posted

      First, please know that receiving two diagnoses at once, especially one you've never heard of, is undoubtedly overwhelming. You are not alone in this. Your understanding is correct: both celiac disease and Mesenteric Panniculitis (MP) are considered to have autoimmune components. While having both is not extremely common, they can co-occur, as chronic inflammation from one autoimmune condition can sometimes be linked to or trigger other inflammatory responses in the body. MP, which involves inflammation of the fat tissue in the mesentery (the membrane that holds your intestines in place), is often discovered incidentally on scans, exactly as in your case. The fact that your medical team is already planning follow-up with a DEXA scan (to check bone density, common after a celiac diagnosis) and a repeat CT is a very proactive and prudent approach to monitoring your health. Many find that adhering strictly to the gluten-free diet for celiac disease helps manage overall inflammation, which may positively impact MP over time. It's completely normal to feel uncertain right now. Your next steps are to take this one day at a time, focus on the gluten-free diet as your primary treatment for celiac, and use your upcoming appointments to ask all your questions about MP and what the monitoring plan entails. This dual diagnosis is a lot to process, but it is also the starting point for a managed path forward to better health. This article has some detailed information on how to be 100% gluten-free, so it may be helpful (be sure to also read the comments section.):    
×
×
  • 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.