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Genetic Testing for Celiac

JD-New to Celiac
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JD-New to Celiac Explorer
JD-New to Celiac
Posted

I was wondering if anyone can explain the Celiac genetic testing I had done recently. I did one of the online tests and they really didn't explain the results. I never had the biopsy done but blood test showed positive results with 20 times the normal limit for the tTg IgA and Endomysial IgA showing a positive result and abnormal.

HLA DQ2 = Postive

HLA DQ8 = Negative

Variants detected - HLA DQA1 05; HLA DQA1 05 (listed this variant a 2nd time); HLA DQB1 0201; HLA DQB1 0201 (also listed a 2nd time)

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knitty kitty Grand Master
knitty kitty
Posted

HLA-DQA1 and HLA-DQB1 Genetic Markers and Clinical Presentation in Celiac Disease

https://journals.lww.com/jpgn/Fulltext/2002/05000/Further_Studies_of_Anti_Endomysium_and.14.aspx

Tracy414 Explorer
Tracy414
Posted

I’m not 💯 sure, but that may mean you have two copies of the DQ2 gene. Have you reached out to the company? I did one I got online and it said positive for essentially the same thing, but no clue if it was homo (two copies of DQ2) or heterozygous (only one copy of the DQ2). I reached out and they answered my question. I only have one copy. Two copies = higher risk. But sounds like you’ve already confirmed you have celiac. 

JD-New to Celiac Explorer
JD-New to Celiac
Posted
  • Author
28 minutes ago, Tracy414 said:

I’m not 💯 sure, but that may mean you have two copies of the DQ2 gene. Have you reached out to the company? I did one I got online and it said positive for essentially the same thing, but no clue if it was homo (two copies of DQ2) or heterozygous (only one copy of the DQ2). I reached out and they answered my question. I only have one copy. Two copies = higher risk. But sounds like you’ve already confirmed you have celiac. 

Well, yes, Tracy414, I am confirmed but based only on bloodwork. No biopsy. As one member has said at this point I have accepted the fact that I have celiac, but I thought doing the genetic testing would give me a guarantee of some sort. I have tried Google to research the test results and I am afraid I would need a much higher college degree to understand what they are saying. As I read more and more it gives me a headache. I thank you and Knitty Kitty for your help. I thought many more on this site would have had the genetic testing done but perhaps it was a waste of time and money. I am beginning to think celiac is a money pit. I will though take your advice and reach out the lab that did the test.

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