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Genetic Testing Results


bahrbdoll

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bahrbdoll Rookie

Ok, so I talked my gastro Dr. into doing genetic testing to rule out celiacs- Because of my gastric bypass he was not able to do the standard biopsy. I thought the gluten free diet was slowly improving symptoms. It's been over 4 mo. He said he was almost certain it wasn't celiacs- told me to eat what ever I wanted while we waited 2 weeks for the results. So, I thought ok it's been 4 mo. maybe if it's not celiacs my system would be "healed or better" so I had 15 pizza rolls- almost died over the next 4 days. took my stomach a week to get off the roller coaster ride. Who knows? no one I know! so this is what his nurse sent to me- Alleles detected: HLA DQ1 5 detected/less than 0.1xRelative Risk: Extremely low..........What the crap is that? Is it some confusing way to say it was detected but not enough to be positive? could some one help me w/ this. Thanks


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ravenwoodglass Mentor

You can't rely on gene testing for diagnosis. IMHO. If you ask for a copy of the tests and post them there are a couple folks with a great deal of knowledge that may be helpful with them.

How are you doing on the diet? Have you noticed any improvement? You said you thought you might have healed so you tried the pizza rolls. I take that to mean you were feeling better. Go back to the diet and then when symptoms stop ff you want to challenge the gluten-free diet what you need to do is to challenge it with something that is just gluten. I used cream of wheat and triscuits.

nora-n Rookie

Could be DQ 1 on one allele, and 5 on the other allele.

But that could mean that it was tested by Quest diagnostics, and the last one posting with quest results, had both the alpha and beta chains. And, there was half a celiac gene in the alpha chain.

I think quest would have reported that nowadays.

Well, turns out there are several DQ1 (Both 1 and 5 are DQ1) on the celiac or gluten free forums, and they are even more sensitive to gluten than the DQ2 and 8 celiacs once they react to gluten.

Dr. Hadjivassilou found that about 20% of his gluten ataxia patients were DQ1.

And, read this one:

https://www.celiac.com/articles/1101/1/Glut...ewey/Page1.html there is a percentage of diagnosed celaics wihtout DQ2 or 8, and certainly lots of people with non-celiac gluten sensitivity.

For the genes go to wikipedia and type in HLA DQ and there is a chart there.

nora

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    • par18
      Thanks for the reply. 
    • Scott Adams
      What you’re describing is actually very common, and unfortunately the timing of the biopsy likely explains the confusion. Yes, it is absolutely possible for the small intestine to heal enough in three months on a strict gluten-free diet to produce a normal or near-normal biopsy, especially when damage was mild to begin with. In contrast, celiac antibodies can stay elevated for many months or even years after gluten removal, so persistently high antibody levels alongside the celiac genes and clear nutrient deficiencies strongly point to celiac disease, even if you don’t feel symptoms. Many people with celiac are asymptomatic but still develop iron and vitamin deficiencies and silent intestinal damage. The lack of immediate symptoms makes it harder emotionally, but it doesn’t mean gluten isn’t harming you. Most specialists would consider this a case of celiac disease with a false-negative biopsy due to early healing rather than “something else,” and staying consistently gluten-free is what protects you long-term—even when your body doesn’t protest right away.
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