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Gene Testing

wilsonr77

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wilsonr77 Newbie
wilsonr77
Posted

Hi - I am being looked at for Gluten intolerance and/or celiac disease.  I am Type 1 diabetic with hashimoto's as well.  My issues are anemia, heartburn, joint pain, brain fog, anxiety.  I had gene testing done by an integrative dr and the results showed homozygous negative for both DQ2. and DQ8.  The cover page says that "my report contains one or several red or yellow fields indicating genetic variation".  I haven't been back to see the integrative dr because she ran all sorts of unnecessary tests so I gave the gene results to my GI.  he thought it looked like that means I am negative for the genes, but wasn't sure due to the ambigious cover page.

 

Does anyone know what this means, or been positive for celiac disease without both genes?  I am going to get an endoscopy in march, but am curious.  TIA!!!

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nvsmom Community Regular
nvsmom
Posted

Welcome to the board.  :)

 

Roughly 97% of celiacs have at least one of the DQ2 or DQ8 genes, but that means that about 3% of celiacs do not.  It is very unusual to have celiac disease without one of the DQ 2 or DQ8 genes but it does happen, and I think we have two board members who have confirmed celiac disease even though their genetic test was negative.

 

Because you already have diabetes T1 and Hashi's, both of which are the most common co-occuring autoimmune diseases with celiac disease, I would say your chances of having celiac disease would be higher than the average patient with negative genetic tests, especially if you are having symptoms.

 

Have you had the blood tests yet? 

wilsonr77 Newbie
wilsonr77
Posted
  • Author

Hi - I am being looked at for Gluten intolerance and/or celiac disease.  I am Type 1 diabetic with hashimoto's as well.  My issues are anemia, heartburn, joint pain, brain fog, anxiety.  I had gene testing done by an integrative dr and the results showed homozygous negative for both DQ2. and DQ8.  The cover page says that "my report contains one or several red or yellow fields indicating genetic variation".  I haven't been back to see the integrative dr because she ran all sorts of unnecessary tests so I gave the gene results to my GI.  he thought it looked like that means I am negative for the genes, but wasn't sure due to the ambigious cover page.

 

Does anyone know what this means, or been positive for celiac disease without both genes?  I am going to get an endoscopy in march, but am curious.  TIA!!!

Thanks for the quick reply.  I did have blood tests done that were all negative/normal.  I have an endoscopy scheduled for the beginning of march since I have acid reflux  and some suspected esophagus issues.  I guess I will ask the dr to do a biopsy while he is in there.  I am surprised that in the US if you don't have the 2 genes dr's automatically say that you don't have celiac disease.  My GI really listens to my questions and point of view so hopefully he will just do the biopsy to once and for all confirm either its just a sensitivity (I have less problems being gluten-free) or celiac disease.  I did start eating gluten tonight so that it is in my system for the test,

cyclinglady Grand Master
cyclinglady
Posted

What tests were actually run? Be sure to get copies. Often, just the initial screening test is run -- not the complete panel. If I had had just the initial screening, I would not have been diagnosed with celiac disease. U the doc should take up to six biopsies. The small intestine is vast and damaged areas can be missed!

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