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As we know, celiac disease is genetic, so many doctors recommend genetic testing. Genetic testing can be used to rule out celiac disease when a patient is already on a gluten-free diet or the test results are inconclusive. Once a family member is diagnosed with celiac disease, doctors often encourage first-degree relatives to have antibody testing (every 3 years or immediately if symptoms appear). Genetic testing can be done through blood tests or saliva testing. Genetic testing is not a diagnosis of celiac disease, nor does it mean you will ever develop celiac disease. There is a separate set of testing methods to diagnose celiac disease. Note that positive antibody or genetic test results only suggest the presence of celiac disease – test results cannot confirm it. If these screening tests are positive, the next step in diagnosing celiac disease is to obtain a small bowel biopsy.

Most people diagnosed with celiac disease share common genes. The genes are inherited, one from your mother and one from your father. Of all the possible HLA genes, over 90% of patients have at least one copy of a gene called HLA DR3-DQ2.5, sometimes those with celiac disease have 2 copies of this gene. Other HLA genes common in patients with celiac disease include DR4-DQ8. These gene variants are not sufficient to develop celiac disease; these genes are common in the general population. Patients with 1 or 2 copies of DR3-DQ2.5 have a higher risk of developing the disease than those with 1 or 2 copies of DR4-DQ8.

If you want to find out about celiac gene, check out our article on this topic: Can you have the celiac gene and not have celiac disease?

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