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Celiac Disease, Genetic Testing

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

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Celiac disease (gluten intolerance) is an enteropathy with a strong 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 affected 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 an important role 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 make a diagnosis of celiac disease, because only a small percentage of individuals with positive testing for these genes will develop celiac disease.



Important Note

Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-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 interpreted in relation to each individual case and family history, clinical findings, and the results of other laboratory tests and information. Your personal 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.

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