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nw0528

Ped Gi Appt On Monday - Gene Test?

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Hello (again) I was part of this group a little over a year ago when I was suspected of having Celiac, but turned out (endoscopy/biopsies) to not be celiac, but gluten sensitivity and SIBO (small intestine bacterial overgrowth).

Now, I'm back...my 3 year old son has had ongoing severe diarrhea for six months. Just found out the bloodwork oordered two months ago by our ped and then sent to a GI which included a celiac panel did have a component that was POSITIVE, while I was told he was negative by the GI. (Yesterday I saw the test results and for one section it said, "consider patient positive for celiac." Both my ped and I are furious that the GI never mentioned this. (Long story, just after the test was done, son got an intestinal blockage which has just now resolved.) Anyhow, we were referred to a different ped. GI (actually was mine as a kid) whose nurse called to say that he wants to see my son Monday.

I want to ask for a gene test for celiac. Does it have a specific name when done through a doctor/hospital lab, that I should know when I ask for it?

Am I correct in thinking that

0 gene = no celiac possible

2 genes = celiac

1 gene = possibility person could develop celiac

Currently he continues to consume gluten as we are hoping an endoscopy will be done in the next few weeks so we will know for sure.

Thanks,

Nicole

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Am I correct in thinking that

0 gene = no celiac possible

2 genes = celiac

1 gene = possibility person could develop celiac

Currently he continues to consume gluten as we are hoping an endoscopy will be done in the next few weeks so we will know for sure.

Thanks,

Nicole

Not at all, the gene tests don't directly deal with celiac disease. The gene tests look for your genes that encode for a specific part of your immune system (HLA) that has to do with creating antigens for different pathogens. The genes that are tested for have to do with gliadin presenting antigens, not tTG (although tTG-deaminated gliadin is often times more efficiently presented by the same antigens). As these have to do with how your body reacts to gliadin and not it's own cells the tests are simply for gluten sensitivity and not celiac disease.

Each of these genes have 2 parts from both your mother and father and so you'll get back results like 2.5/2.2, each of which is a two part marker. If end up with zero genes responsible for gluten sensitivity then yes you won't end up with celiac disease since celiacs is simply a complication of advanced gluten sensitivity although there might be additional very rare genes for gluten sensitivity that aren't looked for in some of the genetic tests. If you end up with only 1 of the genes that encode for gluten sensitivity then your odds are moderate for developing celiac disease, additionally some of the genes alone aren't necessarily efficient enough to bring about an immune system response to the gliadin molecule. If you have 2 genes for gluten sensitivity then your risks are certainly higher and some of them (like 2.5 in particular) may be sufficient enough to cause a major response with only one copy of the gene.

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