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Diagnostic Testing Algorithms for Celiac Disease


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HLA Typing For Celiac Disease

Slide 7

updated June 2011

The other laboratory test available for celiac disease is HLA typing specifically for the DQ2 and DQ8 alleles. The HLA-DQ molecules are composed of an alpha and a beta chain. Identification of both chains is required in order to determine if either the DQ2 or DQ8 are present. This type of testing is performed using PCR amplification of the alpha and beta chains, followed by allele-specific identification on a bead-based multiplex platform. For the HLA typing, the results are reported out as "permissive genes present," "permissive genes absent," or "equivocal."

For HLA-DQ2, DQA1*05xx with DQB1*0201 or *0202 are considered permissive for celiac disease, even if an individual is heterozygous for either allele. In contrast, DQA1*0201 with DQB1*0202 must be present as a homozygote in ordered to be considered permissive for celiac disease. If only one copy of DQA1*0201 with DQB1*0202 is found, the results are considered to be equivocal.

For HLA-DQ8, a single copy of DQA1*03xx with DQB1*0302 would be considered to be permissive for celiac disease. Again, although this testing is not required to establish a diagnosis of celiac disease, it can be useful for ruling out the disease in cases where neither allele is detected.

HLA Typing For Celiac Disease


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