Genotyping for Coeliac Disease (HLA DQ2/8)

Coeliac disease is strongly associated with HLA DQ2 and HLA DQ8. HLA DQ2 is encoded by genetic markers DQA1*05 and DQB1*02, while HLA DQ8 is encoded by DQA1*0301 and DQB1*0302. More than 97% of all patients with Coeliac disease have one or both genetic markers. When both markers are negative it is highly unlikely that Coeliac disease is present. HLA testing is not a screening test for Coeliac disease, but rather a test to exclude the disease when a negative result occurs.

There is clear evidence that a family tendency toward Coeliac disease exists, with 5-10% of the first-degree relatives of diagnosed Coeliac patients developing the disease.

Indications For Testing.

Patients with unclear serological results, as well as in family members of Coeliac patients who are negative for serology.