Positive Celiac Disease Blood Test, Negative Genetic Test


Hello, I was diagnosed with celiac 2 years ago. First by blood serum, then by biopsy. Both of my children were tested and had positive high blood serum tests; however, the child specialist we were referred to did some extra gene testing on my daughters and said neither one would develop the disease. My concern is both my girls, ages 9 and 6, display all of my previous symptoms before I was diagnosed. My 6 year old is almost 7 has not lost a baby tooth yet. She is so small I carry her around like a 3 year old. My 9 year old, who always complains of stomach pain, has started to get a few gray hairs.

My question is…. Shouldn’t a biopsy be done for them as well for a proper diagnosis? The specialist is telling me no, but my gut tells me there is something there.


Because I do not know exactly which blood tests were ordered and I cannot review the tests myself, it is difficult for me to say what to do in this situation. We know that genetic predisposition plays a key role in the development of celiac disease. One of two HLA (human leukocyte antigen) genes, HLA-DQ2 or HLA-DQ8, is necessary to develop celiac disease. Patients who are negative for both of these genes are very unlikely to suffer from celiac disease. If your daughters are negative for both HLA-DQ2 and HLA-DQ8, I would recommend talking to your pediatrician and your pediatric gastroenterologist about other possible diagnoses.


Center for Celiac Disease at The Children’s Hospital of Philadelphia