Genetic diagnostics of celiac disease - identification of HLA haplotypes DQ2 and DQ8

Testing for HLA-DQ2/DQ8 celiac disease

Genetic testing for the HLA-DQ2 or HLA-DQ8 haplotype found in celiac disease, an immune-mediated disease caused by the consumption of gluten.

The HLA-DQ2/DQ8 test is one of the criteria for diagnosing and confirming celiac disease. About 95% of patients with celiac disease have the HLA-DQ2 genotype. Patients who do not have HLA-DQ2 exhibit the HLA-DQ8 genotype.

Celiac disease is a lifelong genetic disease. Celiac disease involves intolerance to gluten, a backup protein found in cereals (wheat, barley, rye, oats). Gluten acting adversely on digestive processes and food absorption leads to negative clinical symptoms.

The determination of HLA-DQ2 and HLA-DQ8 is important in:

• unambiguous biopsy results,
• uncertain serologic test results (especially in children under 2 years of age),
• patients following a gluten-free diet without a confirmed, unequivocal diagnosis,
• when determining genetic predisposition in first-degree relatives of patients with celiac disease
• when differentiating other intestinal diseases

The test is performed using a blood sample.