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Question About Genetic Testing

luckymomma

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luckymomma Newbie
luckymomma
Posted

I'm new to the site and have enjoyed reading in the different forums - lots of helpful info! Based on symptoms, I believe that my two children and I have celiac. I just had testing done, and my serology was all normal, but the genetics came back with a high risk. The report (Prometheus) says DQ 2.5 (HLA DQA1*05:DQB1*0201) and other non-risk alleles. My questions are:

What does the part in parentheses say about my risk for celiac?

Does it matter that I don't know the other non-risk alleles? (I called Prometheus but they won't give me any info)

Is it possible to have celiac with this genetic result but negative serology? My doctor wants to do an endoscopy.

Thanks in advance for any info you all can share!

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ravenwoodglass Mentor
ravenwoodglass
Posted

Yes it is possible to have celiac with that genetic result. It is also possible to have celiac with many other genes. As far as the company not giving you the full results, well you have a legal right to them so don't ask for them tell them that you want them. And yes you can have celiac without having a positive blood test. False negative blood and biopsy tests are fairly common. About 20 to 30 percent of us show up negative on those tests. When all testing is done it is a good idea to go gluten free strictly for a couple of months as your body will usually let you know if the diet helps.

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ruca55 Apprentice
ruca55
Posted

Is genetic testing something ordered by a general doctor or a gi doctor? Or is it something people do out of pocket? What's involved, is it a blood draw?

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lizard00 Enthusiast
lizard00
Posted

Is genetic testing something ordered by a general doctor or a gi doctor? Or is it something people do out of pocket? What's involved, is it a blood draw?

My GI ordered it. It was a very simple blood draw. Mine was done through Prometheus and wasn't cheap. I paid for about 50% of it.

That was a couple years ago. I've seen newer stuff out there, ie saliva tests, but I can't speak on the cost or validity of those.

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      Trying to read my lab results

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      Hi Scott, yes I have had symptoms for years and this is the second GI I have seen and he could not believe I have never been tested. He called later today and I am scheduled for an endoscopy. Is there a way to tell how severe my potential celiac is from the results above? What are the chances I will have the biopsy and come back negative and we have to keep searching for a cause? 
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      I agree christina, there is definitely many contributing factors! I have the pain today, my pelvis, hips and thighs ache! No idea why. But i have been sitting at work for 3 days so im thinking its my back. This disease is very mysterious (and frustrating) but not always to blame for every pain. 
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      By mishyj · Posted

      Perhaps I should also have said that in addition to showing a very high response to gluten, her stool study showed that she had extreme reactions to everything achievement on it long course of microbials to treat that.
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