Understanding Lab Tests for Coeliac Disease
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Coeliac disease is a chronic autoimmune condition where consuming gluten triggers an immune response that damages the small intestine lining. This condition affects approximately 1% of the population and requires lifelong adherence to a strict gluten-free diet for management.
Recommended Test
HLA DQB1 Low Resolution
This genetic test identifies variations in the HLA-DQB1 gene that are strongly associated with coeliac disease risk. Approximately 95% of people with coeliac disease carry specific HLA-DQB1 variants. While having these genetic variants doesn't guarantee you will develop the disease, their absence makes coeliac disease highly unlikely, making this test particularly useful for ruling out the condition or assessing genetic predisposition in family members.
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The Role of Genetic Testing in Coeliac Disease
While coeliac disease is typically diagnosed through a combination of blood tests measuring specific antibodies, intestinal biopsy, and clinical assessment, genetic testing plays a crucial supporting role. Nearly all individuals with coeliac disease carry specific genetic variants, making genetic testing valuable for risk assessment and diagnostic support.
Understanding Your Results
A positive HLA-DQB1 test indicates genetic susceptibility but does not confirm active disease. Additional testing with coeliac-specific antibodies and clinical evaluation would be needed for definitive diagnosis. A negative result significantly reduces the likelihood of having coeliac disease, as the vast majority of affected individuals carry these genetic markers.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment. If you suspect coeliac disease, maintain a gluten-containing diet until all testing is complete, as avoiding gluten can affect test accuracy.
