Coeliac Disease HLA Typing
Also known as: Coeliac Tissue Typing« Back to test list
Patients with coeliac disease almost always have specific variants of the human leukocyte antigens, HLA-DQ2 and HLA-DQ8.
These variants are necessary, but not sufficient, for the disease to occur. Up to 30% of some Caucasian populations have these specific variants, but only 5-10% of such people ever develop coeliac disease.
The presence of these variants indicates that a person is at increased risk of developing coeliac disease. Nonetheless, the majority of people with these variants will not develop coeliac disease.
The absence of these variants effectively excludes a diagnosis of coeliac disease in the patient now or in the future. This is the principle value of the test, excluding the current or potential diagnosis of coeliac disease in a symptomatic patient, a patient on a gluten-free diet, or in the relatives of a person with coeliac disease.
Analysis of the gene sequence of the HLA-DQ and DR genes for the presence of specific variants.
This test can be requested by any medical practitioner.
5 mL blood in EDTA. Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We also recommend that the patient or another adult check the labelling of request forms and sample tubes.