URL path: Index page // Celiac Disease, Genetic Testing

Celiac Disease, Genetic Testing

Genetic testing for celiac disease is used as an adjunct to screening patients with potential celiac disease.

More information

Celiac disease (gluten intolerance) is an enteropathy with a solid genetic background. The disease is characterized by permanent intolerance to the gluten protein found in wheat, rye, and barley. It affects about 1 in every 100-300 people, though only 1 in 8 know they are concerned as the symptoms can be mild or non-specific. The incidence of celiac disease is more prevalent in certain autoimmune disorders such as insulin-dependent diabetes (6%), thyroiditis (2 to 4%), and Sjogren's syndrome (5%). It is also more prevalent in patients with Down syndrome (5 to 12%), Turner syndrome (3%), Williams syndrome (3 to 10%), and IgA selective deficiency (2 to 10%).

Environmental, immunological, and genetic factors play important roles in the pathogenesis of celiac disease. Celiac disease is closely linked to specific molecules, HLA-DQ2 and HLA-DQ8, encoded by the HLA-DQA1 and HLA-DQB1 genes.

A negative test for variants of the celiac disease-associated HLA-DQA1 and HLA-DQB1 genes categorically excludes the diagnosis of celiac disease. However, molecular screening of genes alone cannot diagnose celiac disease because only a small percentage of individuals with positive testing for these genes will develop it.

See also



Important Note

Laboratory test results are the most important parameter for diagnosing and monitoring all pathological conditions. Between 70% and 80% of diagnostic decisions are based on laboratory tests. The correct interpretation of laboratory results allows a doctor to distinguish "healthy" from "diseased."

Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be analyzed based on each case and family history, clinical findings, and the results of other laboratory tests and information. Your physician should explain the importance of your test results.

At Diagnostiki Athinon, we answer any questions you may have about the test you perform in our laboratory, and we contact your doctor to get the best possible medical care.

Additional information
Share it