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Celiac Disease: Tests and Diagnosis

What tests are used to diagnose celiac disease?

Because celiac disease is an autoimmune disorder, doctors test for it with an autoantibody test performed at the hospital or at an on-campus laboratory. The test looks for autoantibodies in a blood sample. We use it to see if children have the disease, to aid in diagnosis and to monitor the treatment of celiac disease.

We also perform upper intestinal endoscopies the small intestine to diagnose celiac disease and evaluate the degree of injury it has caused to the intestines. During this test, a tiny camera is through a child's mouth, through their stomach and into the small intestine. A surgeon then takes a small amount of tissue from the small intestine so it can be examined under microscope. We perform endoscopies under general anesthesia in our procedure suite.

Finally, there is a genetic test that can be performed to see if you have one of the genes that will put you at risk for celiac disease. Remember that these genes are very common, so the presence of these genes doesn't mean that you have celiac disease or that you will get it. Having the genes only means that you are at risk for celiac disease. However, if a child doesn't have one of these celiac risk genes, it is very unlikely he or she will have celiac disease.

Why choose Children's Hospital Colorado for celiac disease testing?

When screening and monitoring for celiac disease, it is very important to understand the type of test being performed, and its limitations. We are very familiar with our test which helps us gauge the likelihood of having celiac disease based on a positive test. Having a positive autoantibody test doesn't necessarily mean that you have celiac disease, but it does make it more likely.  We also have access to one of the most sensitive tests in the world for celiac disease, which can be used in cases that are hard to diagnose.

How do providers at Children's Hospital Colorado make a diagnosis?

If we feel that someone could have celiac disease, we first use a blood test to detect an autoantibody called the tissue transglutaminase autoantibody test. It takes about one week to get the results. If the test is positive and  suggests celiac disease, then we may talk with patients about upper intestinal endoscopy to get biopsies of the small intestine to confirm celiac disease.