The patient is positive for DQA1*05, one half of the DQ2 heterodimer

[Juli530]

I have had many issues, including hypothyroid, neuropathy, chronic diarrhea, malabsorption, I’m giving myself B12 injections, CKD stage 3. My PC sent in for various tests looking for celiacs. The thyroid antibodies came back very high. The RA test came back slightly elevated. The test for it in my genes came back with only positive for DQA1*05, one half of the DQ2 heterodimer. I get that only having this positive means the odds are I don’t have celiacs I think 1:1800. My doctor told me the test came back negative for Celiacs. But didn’t mention the DQA1 05 results. She’s running out on vacation and I feel just rushed read the results. And I don’t think she ordered the other tests, just the gene test. Do I just wait the 4 months before I can finally get in with the GI or call her out on this and ask about the other tests? I’m also a cancer survivor, so waiting on test results is stressful for me. I could use some guidance. 

[trents]

Which "the test for celiac disease" came back negative? There are several blood antibody tests that should run to test for celiac disease but many doctors are pretty uninformed about gluten-related medical problems and only run the TTG-IGA test. Here is a link with more information: https://celiac.org/about-celiac-disease/screening-and-diagnosis/screening/

Do you have access to your medical chart online and can you post the results of "the test for celiac disease" you refer to? We would also need the lab's reference range to know what is normal.

[Juli530]

The only test that had come back is the one I quoted from. I don’t see any others. It’s like she started with the genetic test and didn’t do the others, unless they haven’t shown up. But it’s been 2 weeks. 
here is a paste of the negative results, then a bunch of numbers, then the results relating to the numbers I originally posted are under all the numbers. 
 

est Ordered: 164019 Celiac HLA Rflx to Abs DQ2 (DQA1 0501/0505,DQB1 02XX) Negative 2Q DQ8 (DQA1 03XX, DQB1 0302) Negative 2Q Final Results: DQA1*03:CUUNV,05:CUUNW DQB1*03:CUYKU,- Code Translation: CUUNV 02/03/04/08/09/11/14 CUUNW 

 

[trents]

Those are only genetic test results. Many people have the genetic potential for celiac disease but never develop the disease. It takes some physiological stress event to switch the genes on in order to produce active celiac disease. There have been two genes strongly linked to celiac disease but that doesn't mean you have to have either of them to develop celiac disease. I think there is still a lot we don't know about this.

[trents]

I have no hesitation in recommending to you that you push the doctor to have a full celiac antibody panel done. If the physician will not cooperate, get another doctor. There are also home test antibody kits available for about $100 USD from Imaware: https://www.imaware.health/at-home-blood-test/celiac-disease-screening

And please don't start a gluten free diet until all testing is done or you will invalidate the tests. The gold standard for celiac disease diagnosis is an endoscopy with biopsy of the small bowel lining. Celiac disease damages the villi that line the small bowel. You have many symptoms and medical problems that are associated with celiac disease.

Edited July 14, 2021 by trents

[Juli530]

Thank you. I just needed another person besides myself thinking she didn’t run all the right tests. And what I’ve learned on this site gave me the tools to know what to ask for. If more results aren’t in by Friday I’ll run that test myself. Thank you for your time. Trent. 

[trents]

You are most welcome. And speaking of welcome, welcome to the forum. This forum is a great repository for information on gluten-related medical issues. Unfortunately, the medical community at large is fairly ignorant in this particular matter. You kind of have to take them by the hand and walk them through what needs to be done. Unfortunate also is the fact that a lot of doctors, particularly those who are not recent medical school grads, are skeptical about gluten-related medical conditions and will blow you off.

[Scott Adams]

On a side note, with your current genetic results it looks like your odds of having celiac disease are 1:842 (0.05%), which is a bit higher risk than what you shared (1:1800):