HLA-DQ2 and HLA-DQ8 genotypes

HLA-DQ2 and HLA-DQ8 genotypes identify genes that are associated with Coeliac disease. 

The presence of these genes does not mean that the person has Coeliac disease. Around 40% of the Australian population has those genes present but do not suffer from Coeliac disease.

Negative result can rule out coeliac disease in those individuals for whom results of other tests, including biopsy, are unclear. These tests are most useful for family members of individuals with the disease who fall into a high-risk category and for those with other diagnostic test results that are inconclusive.

Positive result means that the person may have the Coeliac disease but that needs to be confirmed by other investigations.

HLA-DQ2 and HLA-DQ8 genotypes is a part of the IBS testing panel.

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