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EC602121

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About EC602121

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  1. I was wondering if anyone is familiar with genetic test results. I was tested through Prometheus over a year ago due to many celiac symptoms. My test came back positive DQ2.2 and DQ2.5, putting me in their "very high" risk category. Because of these results, my doctor also ordered a genetics screening for my daughter, 10 at the time. Her results ended up being processed through Quest instead and had a very different type of report. It showed the following: HLA-DQ2 Negative HLA-DQ8 Negative HLA-DQA1* 02 HLA-DQA1* 02 HLA-DQB1* 0202 HLA-DQB1* 0202 According to the notations on the test results, she "did not have the HLA-DQ variants associated with celiac disease." I left it at that thinking she could not develop celiac. Fast forward a year and she began developing symptoms - stomach aches that became more and more frequent and reflux after meals with throat clearing and coughing. I looked at these results again, and this is when I noticed the variations that showed positive. I wish I understood genetics more, but I did some research and discovered that these haplotypes form the DQ2.2 gene. Is this correct? If so, I've read studies indicating that being homozygous for DQ2.2 puts you at a moderate risk for celiac - not "no risk." I've also ran her raw DNA through several sites which show she carries genes that put her at risk for celiac. I'm trying to piece all of this together. Am I missing something here? It should be noted that I've since had to go gluten-free, and my husband later did. We've both had dramatic health improvements since. We are seeing her functional MD for this, and also have an appointment with a pediatric GI. Her one doctor reordered tests for both genetics and antibodies and told me I could go through Prometheus with it. It's my understanding that Prometheus offers a more comprehensive genetics screening.
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