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Genetic Testing

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My daughter, 16, who had terrible lower pelvic pain for 7 months and was diagnosed with thyroiditis, Reynauds and mold allergies within two months of each other, saw most of her symptoms resolve and the pain slowly disappear after we started a gluten free diet. In the midst of all her pain and 7 hospital visits, she had a colonoscopy (looking for Crohn's disease which she had shown "incipient" signs of on biopsies several years before) Her gastroenterologist said that this time there was no sign of Crohns, but she had a terrible case of gastritis in her stomach and intestines as she had on the first colonoscopy. She also has acid reflux but is allergic to all the medicines she has been given. A few months later we started the gluten free diet after reading of another child with similar symptoms who discovered she had celiac disease. Almost immediately she started getting better, but the pain didn't entirely resolve for another 6 weeks. She has had digestive problems since she was an infant and my sister and I have ulcerative colitis (no symptoms now for either of us after going gluten free with my daughter--)

We have just had the genetic testing done for DQ2 and DQ8 with test results that came back negative. We cannot get in to see the gastroenterologist until April, and he already thinks that she does not have celiac or gluten intolerance since he saw no blunting. What does it mean to have a negative test for the genes? Could she still have gluten intolerance that caused her severe pain?

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I do think she could have another type of gluten intollerence other than celiac, and it is not impossible that she could have celiac itself, but unlikely... we have just finished testing here for our family, including genetic testing. Some of us had the genes, some did not. The doctor that developed the genetic tests is a GI doctor at our hospital, so I think the doctors here are more familiar with what it all means. We were told that it is "unlikely" that one would have celiac without the major celiac genes... however, unlikely doesn't sound like impossible to me! One of my sons had negative genes but they did a bioposy anyways because of all of his symptoms. It came back unconclusive, but they still haven't ruled it out because of some things that could have indicated villi healing in his bioposy... anyways, to make a long story short, celiac is not impossible, but unlikely, another type of gluten intollerence is a definate possibilitiy...

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We have just had the genetic testing done for DQ2 and DQ8 with test results that came back negative. We cannot get in to see the gastroenterologist until April, and he already thinks that she does not have celiac or gluten intolerance since he saw no blunting. What does it mean to have a negative test for the genes? Could she still have gluten intolerance that caused her severe pain?

DQ2 and DQ8 are the two genes that are recognized in the U.S. for celiac disease. Other countries recognize several other genes. This may explain why celiac disease takes an average of 11 years to diagnose in this country.

Here's a quick reference list of other celiac disease and gluten-sensitive genes.

Genes Associated with Celiac Disease vs. gluten sensitivity:

Celiac Disease

HLA-B8 Celiac disease

HLA-DQ2 Celiac disease

HLA-DQ7 Celiac disease

HLA-DQ8 Celiac disease

HLA-DQ9 Celiac disease

HLA-DR3 Celiac disease

Gluten sensitivity

HLA-DQ1 Gluten sensitivity

HLA-DQ3 Gluten sensitivity

HLA-DQ5 Gluten sensitivity

HLA-DQ6 Gluten sensitivity

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yes, & if you have a double copy of any of those gluten intolerance genes it is worse than if you have a DQ8 or a DQ2.

Just ask those of us that are double DQ1...

& if you are double DQ2 you are at a greater risk for T-cell Lymphoma. Here is a quote from an article on this site.

"HLA-DQ2 homozygosity means that a person has inherited the HLA-DQ2 gene from both parents.

In addition to having a much higher risk of developing celiac disease in general, people with HLA-DQ2 homozygosity have a much higher risk of developing refractory celiac disease type II, and enteropathy-associated T-cell lymphoma. Refractory celiac disease is a rare type of celiac disease in which a gluten-free diet fails to eliminate symptoms and to reverse celiac-associated damage. Eneteropathy-associated T-cell lymphoma is a type of cancer that often develops in people with advanced intestinal damage such as commonly found in celiac patients."

Of course no one is studying the problems that come with double gluten intolerant genes. But there are complications. That is why I always say to test thru Enterolab because they test for ALL the genes not just DQ2 or DQ8.

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Finally I found a post with info on DQ2 homozygosity! I didn't know all those things were associated with it! Scary!

I had myself along with my 2 daughters tested. One is DQ2 / DQ5 and myself and the youngest are DQ2 homozygous. I would love to know if she got one from me and one from her dad but we are divorced and dont speak much. The doctor said it is possible that she inherited both from me. In some types of homozygous genes a child can get both from one parent. Strange.

None of us has a celiac diagnosis, all 3 of our blood tests were negative, but I have improved probably 80-90% on the diet. So I guess I am lucky. Maybe I caught it before irreversible damage was done.

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