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Genetic Testing

pdm1981

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pdm1981 Collaborator
pdm1981
Posted

I'm going to the Cincinnati VA Hospital this Tuesday to see about getting genetic testing done for celiac disease. My original biopsy was screwed up because the doctor told me to go on a gluten-free diet before the scope. The results were no good because I had been on the diet for 3 weeks. I don't want to get sick again just in case I do definitely have it so I want the genetic testing done. I just want to get it right though. If I don't have the gene, I can't have celiac disease or can I?

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rehh05 Apprentice
rehh05
Posted

That is correct as I understand it. The genetic testing only shows if it is possible to become Celiac. My doctor had me do it to rule out celiac... I had been gluten free for a year when I talked to him about the possibility of celiac. My blood rest was negative (because of being gluten free). After the genetic test showed that I carried the genetic disposition, he had an endoscopy done. That confirmed the celiac diagnosis as I had damage and celiac indicators in there. That was 5 years ago. 

ravenwoodglass Mentor
ravenwoodglass
Posted

Doctors check for the two most common genes but there are others.  We stilll have a lot to learn about all the genes associated with celiac and more than those two have been identified. So no the gene test can not absolutely rule it out if you don't have DQ2 or DQ8. I am an example of that as a firmly diagnosed celiac I carry a double copy of DQ9 which has only recently been recognized as associated with celiac.

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    • trents
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      By trents · Posted

      Let me hasten to add that if you will be undergoing an endoscopy/biopsy, it is critical that you do not begin efforts to reduce gluten beforehand. Doing so will render the results invalid as it will allow the small bowel lining to heal and, therefore, obscure the damage done by celiac disease which is what the biopsy is looking for.
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      By Scott Adams · Posted

      This article, and the comments below it, may be helpful:    
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      That’s a really tough situation. A few key points: as mentioned, a gluten challenge does require daily gluten for several weeks to make blood tests meaningful, but negative tests after limited exposure aren’t reliable. Dermatitis herpetiformis can also be tricky to diagnose unless the biopsy is taken from normal-looking skin next to a lesion. Some people with celiac or DH don’t react every time they’re exposed, so lack of symptoms doesn’t rule it out. Given your history and family cancer risk, this is something I’d strongly discuss with a celiac-experienced gastroenterologist or dermatologist before attempting a challenge on your own, so risks and benefits are clearly weighed.
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