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 tests

CherylS

Recommended Posts

CherylS Apprentice
CherylS
Posted

Hello,

I was here a bit  in October when I was confused about some symptoms I was experiencing.  I thought maybe Celiac, but hoped not.  My doctor ran a celiac panel, which I realize now wasn't a full panel, she ran 3 tests, which were negative.  She told me that I could still have Celiac and sent me to a GI doctor for a consult.  I was happy the day I got my results and started thinking that my symptoms were in my head.  I thought about not going to the GI appointment and seeing how I felt, then I got this terrible rash that I get from time to time, super itchy, yet burns when you touch it, it keeps me up at night.  I did a little research and realized it could be DH and decided to keep my appointment with the GI doctor.

The GI doctor was awesome, very willing to listen to my concerns.  She is going to do an EGD with biopsies and a colonscopy (what triggered this was treatment resistent iron deficiency anemia).  I also have autoimmune hepatitis and a hiatal hernia so she feels like even if I don't have celiac, she still wants to take a look at things.  She tossed around things like FODMAP, wheat allergy, eosinophil esophagus.  She suggested a genetic test for celiac, she said if it was postitive it meant that I had the genetic potential to develop celiac and if it was negative that I didn't have the genetic potential to develop it.  I looked at my results and some are postitive and some are negative.  I realize that only one needs to be positive, but I was unsure about the numbers, does anyone know what this means?

I thought I could paste a snip but I can't... ugh

HLA DQ2 Negative

HLA DQ8 Positive

HLA DQA1* 03

HLA DQB1* 0302

HLA DQB1* 0301

HLA Variants detected: HLA DQA1* 03

I'm glad she did this test, I can make sure she follows the proper recommmendations for the number/locations of biopsies.  I'm not getting the procedures done until January 8, I don't want to meet the deductible of my high deductible insurance in December, then have to meet it again next year since we are so close to the end of the year.

 

 

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

Celiac.com Sponsor (A8-M):


CherylS Apprentice
CherylS
Posted
  • Author

I'm not sure if I've offended someone, or if nobody comes around these parts, but I feel kind of snubbed.  Maybe there's a different forum where people are active?  I did a search of these forums for what I'm looking for, but I haven't found it on this site.  I'm sorry if I'm annoying for asking the same question that has been asked before, but I thought this was a support forum, where people supported each other, I can find info and try to decipher it on my own, but I came here to talk it out with people who have been through this.

icelandgirl Proficient
icelandgirl
Posted

Hi Cheryl,

Im sorry that you feel snubbed... (hugs).  This board has been quiet lately for sure.  I don't know why...holidays?  But I don't think you've said anything offensive.   Would your GI be willing to run the remaining celiac tests?  That would be less expensive than the endoscopy.  I didn't have any genetic testing done so I can't answer anything related to that.  I do know that if it is DH  that you need a biopsy of the skin next to the rash and that can confirm a diagnosis without an endoscopy.  I hope that you get the help and answers that you need.

cyclinglady Grand Master
cyclinglady
Posted

Cheryl, 

I am sorry that you feel snubbed!  It has been a little slow lately and that seems to be the nature of forums!  Folks get busy or well!  Anyway, I do not have any expertise on genetic testing or DH (celiac disease rash), so that is why I did not respond.  I do know that if you look through the DH section, it can be more difficult to diagnose.  Blood tests can be negative if I recall.  Skin biopsies are really tricky.  Please research DH so that you are knowledgeable and can discuss it with your doctor.  

Remember that the genetic tests are just a tool that has been normally used to rule out celiac disease.  But the latest research shows that there are other genes involved depending on where you live in the world.  

It sounds like you have good doctors.   That is a relief!  With your autoimmine hepatitis and anemia, it sounds like you have celiac disease.   Something is wrong!

Hang in there!  

mommida Enthusiast
mommida
Posted

Sorry you feel snubbed.  My laptop died, so I jumped on someone elses computer today.

I am not a full believer in genetic testing as the end all definitive answer.  My family went through the genetic testing and had some questionable results.  I questioned the results and was told by Prometheus labs... Genes can mutate, there is still the 2% known miss rate, and all blood tests have a 30% human error rate.

You might want to look at some information on Pernicious anemia. 

Good luck on your testing.  Please keep us updated on your progress and ask any questions you would like.

There is also the gluten files Celiac group forum that gets very technical.  I think they are still running strong, but I prefer this group.  It seems a lot of our group got very personal and linked up with each other on facebook and such.

manasota Explorer
manasota
Posted

Hi CherylS!   Please don't feel slighted!  I'm sure plenty of us have read your post but didn't feel we had anything to help you.  Your situation is fairly complex and I don't share your issues.  Luckily, it does sound like you have good doctors--a HUGE advantage.

I imagine somebody with DH will respond and give you some tips about that.  There is lots of help here and lots of people who are very caring and kind.

Hang around and hang in there!  Best of luck!

GFinDC Veteran
GFinDC
Posted

Hi Cheryl,

Since you are still in the testing phase, be sure to keep eating gluten for now.  The antibodies that cause celiac damage decline after we stop eating gluten and are harder or impossible to detect after a while.  The IgA antibodies (DH) are deposited in the skin and blood tests don't include skin samples.  That's why they take a sample of skin next to a DH lesion when testing for antibodies.

I suppose you have heard of Hashimoto's Thyroiditis?  I see your interests include Grave's disease.  They test for Hashimoto's by testing for TPO antibodies.  Hashimoto's attacks the thyroid and can cause symptoms to swing between hyper and hypo thyroid.

There is a positive relationship between celiac disease and other auto-immune conditions.  It's not super unusual for people to have more than one auto-immune disease.  Some people say auto-immune diseases run in packs.

Later...

paul

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.

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. trents
      - trents replied to melthebell's topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms
      1

      Persistent isolated high DGP-IGG in child despite gluten-free diet

      Welcome to the celiac.com community, @melthebell! I certainly would have a biopsy repeated as it has been 5 years since the first one. You mentioned he was scheduled for an endoscopy but make sure a biopsy is also done. It's possible he, like you are, is a "silent" celiac where the damage to the intestinal mucosa happens very slowly and can take years...
    2. melthebell
      - melthebell posted a topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms
      1

      Persistent isolated high DGP-IGG in child despite gluten-free diet

      Hello community; it's nice to have found you. I am a 42 year old biopsy confirmed celiac. I have had it since I was 18. Well managed on a gluten free diet. No idea if I have the gene (presume I do) as never tested. Diagnosed as was anaemic and had a high celiac market (can't recall which), and a positive biopsy. Asymptomatic. Given this, I regularly...
    3. trents
      - trents commented on Scott Adams's article in Winter 2026 Issue
      4

      Why Celiac Diagnosis Still Takes Years—and How to Change That

      @par18, I don't totally disagree with what you say in theory. But like many things in life, one size doesn't fit all. While a formal diagnosis of celiac disease or NCGS is certainly not essential since, in the big picture of things, eliminating gluten is the antidote to either, there are some other considerations that give importance to seeking a formal diagnosis...
    4. Jmartes71
      - Jmartes71 replied to Known1's topic in Gluten-Free Foods, Products, Shopping & Medications
      4

      What would you do - neighbor brought gluten-free pizza from Papa Murphy's

      Domino's and Mountain Mike also has glutenfree pizza.However the issue is the cross contamination. Not worth a few minutes of yum yums i n the taste buds with a painful explosion later.
    5. par18
      - par18 commented on Scott Adams's article in Winter 2026 Issue
      4

      Why Celiac Diagnosis Still Takes Years—and How to Change That

      Withholding the treatment (strict gluten-free diet) until the very end to me is the biggest obstacle to getting more people "identified" with gluten intolerance/Celiac. The strict gluten-free diet in my opinion is both the effective treatment and also a valuable diagnostic tool. My personal advice would be to go on a properly administered gluten-free diet...
  • Celiac.com Sponsor (A19):

  • Member Statistics

    • Total Members
      133,497
    • Most Online (within 30 mins)
      7,748
    Jennifer And
    Newest Member
    Jennifer And
    Joined
  • Celiac.com Sponsor (A20):
  • Celiac.com Sponsor (A22):

  • Forum Statistics

    • Total Topics
      121.6k
    • Total Posts
      1m
  • Celiac.com Sponsor (A21):

  • Upcoming Events

  • Posts

    • trents
      Persistent isolated high DGP-IGG in child despite gluten-free diet

      By trents · Posted

      Welcome to the celiac.com community, @melthebell! I certainly would have a biopsy repeated as it has been 5 years since the first one. You mentioned he was scheduled for an endoscopy but make sure a biopsy is also done. It's possible he, like you are, is a "silent" celiac where the damage to the intestinal mucosa happens very slowly and can take years to manifest to the point of being detectable and where symptoms are minimal or absent. At 10 years old, his immune system may not be mature enough het to trigger the usual IGA responses that the IGA celiac tests are designed to detect.  I would also have genetic testing done to confirm that he has or doesn't have the potential to develop celiac disease. The genetic profile can also offer insight into the type of celiac disease a person will develop if they ever convert from latent to active. Take a look at table 2 under the section "Types of Celiac Disease" in the article found in this link: https://pmc.ncbi.nlm.nih.gov/articles/PMC9980758/  Genetic testing is available from 3rd party labs. I think you just have to send in a cheek swab sample.
    • melthebell
      Persistent isolated high DGP-IGG in child despite gluten-free diet

      By melthebell · Posted

      Hello community; it's nice to have found you. I am a 42 year old biopsy confirmed celiac. I have had it since I was 18. Well managed on a gluten free diet. No idea if I have the gene (presume I do) as never tested. Diagnosed as was anaemic and had a high celiac market (can't recall which), and a positive biopsy. Asymptomatic. Given this, I regularly test my two children. My eldest is the child in question. First tested at age 5 due to slight anaemia. Everything negative except for a slightly high DGP IGG (slightly elevated at 25). Not IGA deficient. Did a biopsy with a pediatric gastro, was negative. Next test at age 8. Everything once again negative, high DGP IGG at 116 U/ml this time. Living in a country now with no celiac knowledge so decided to whack him on a gluten-free diet and see how he goes. Next test at age 9 after a year on gluten-free diet. Everything once again negative, high DGP IGG at 174 U/ml this time! On a gluten-free diet. Final test was a week ago at age 10, on continued gluten-free diet. Once again a positive DGP IGG, this time over 250 U/ml. On a gluten-free diet. what the heck is going on with my kid? We have seen a pediatric gastro via telehealth, who was equally puzzled and suggested doing a gluten challenge and an endoscopy, which we have schedule for end of April. Kid is otherwise fine. Energetic and growing well. No significant gastrointestinal symptoms. Has anyone encountered something like this before?
    • Jmartes71
      What would you do - neighbor brought gluten-free pizza from Papa Murphy's

      By Jmartes71 · Posted

      Domino's and Mountain Mike also has glutenfree pizza.However the issue is the cross contamination. Not worth a few minutes of yum yums i n the taste buds with a painful explosion later.
    • Scott Adams
      Reverse Osmosis (RO) Water

      By Scott Adams · Posted

      I don't recall seeing "many people here recommending RO water," but reverse osmosis (RO) water is water that has been purified by forcing it through a very fine membrane that removes dissolved salts, heavy metals, fluoride, nitrates, PFAS, and many other contaminants. It is one of the most thorough household filtration methods available and can be especially beneficial in areas with well water or known contamination concerns. While RO systems also remove beneficial minerals like calcium and magnesium and may produce slightly “flat”-tasting water, most dietary minerals come from food rather than drinking water, so this is not usually a health concern for most people. Overall, RO water is very clean and safe to drink, and it can be a smart option where water quality is questionable, though it may not be necessary in areas with well-tested municipal water.
    • Scott Adams
      What would you do - neighbor brought gluten-free pizza from Papa Murphy's

      By Scott Adams · Posted

      With the wide availability of frozen prepared gluten-free pizzas, for example DiGiorno's, it's probably best to avoid the risk of eating pizza in restaurants that also make regular pizza.
×
×
  • 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.