Celiac Disease HLA-DQ2/DQ8 Genotyping

Celiac Disease HLA-DQ2/DQ8 Genotyping is an NGS-based molecular genetic test performed at Enigma Genomics to assess an individual’s genetic predisposition to celiac disease by analyzing relevant variants within the HLA-DQA1 and HLA-DQB1 genes associated with the HLA-DQ2 and HLA-DQ8 haplotypes.

The test identifies the presence or absence of celiac disease-associated HLA-DQ2 and HLA-DQ8 genetic profiles. The presence of these haplotypes indicates genetic susceptibility to celiac disease but does not confirm the diagnosis, as these variants are also present in a proportion of the general population. Conversely, the absence of the relevant HLA-DQ2/DQ8 risk profiles makes celiac disease highly unlikely.

Results Will be interpreted in conjunction with the patient’s clinical presentation, serological testing, family history, and other relevant clinical findings.