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Genetic Testing

bayba792

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bayba792 Rookie
bayba792
Posted

My husband had the genetic test done for celiac disease on May 1 and got the results today. They told him that he has a weak strain of the gene and needs to see a Gi specialist. Is it possible to have a weak strain of the gene?

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IrishHeart Veteran
IrishHeart
Posted

No. You either have the gene or you do not. they do not have "strains".

 

The genes "associated with but not always predictive of " Celiac are:  HLA- DQ2 nd HLA- DQ8.

 

What  EXACTLY does his test result say?

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bayba792 Rookie
bayba792
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Posted

The nurse told him that he tested positive  for the gene but it was a weak (something, he don't remember what she said) and he needs to see a GI specialist because there is a possibility he does have celiac. He has had a lot of gi problems so he has been gluten free for two months and feels great. He does not want to have to go back on gluten to be diagnosed. I'm hoping that they post the results online so I can read them for myself.

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IrishHeart Veteran
IrishHeart
Posted

Having the gene for celiac does not automatically mean he has celiac. Many people carry the gene but do not trigger it.

 

"GI problems" plus the positive genetic marker  may be relevant diagnostic tools, but again, this is not a diagnosis.

 

GI problems can mean so many things: Crohn's, Ulcerative colitis, etc.

 

However, he needs to be consuming gluten for the blood panel and the biopsy to be valid. Sorry.

 

Being off gluten and feeling great is certainly indicative of a gluten intolerance of some kind. 

 

Sadly, this is the conundrum that many face. They go gluten-free before they are tested, so how do they "confirm the DX' without going back on the very thing that makes them ill.

 

:(

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