HLA DQ α1*0501, β1*0201

Category: Gastroenterology & Hepatology
Test Code: 150
Disease: • Pharmacogenetics/Ocular Immunogenetics • Celiac Disease (CD)
Methodology: Polymerase chain reaction (PCR) with sequence specific primers, PCR with sequence specific probe hybridization
Reference Range: Qualitative
CPT Code: 83891, 83900(x2), 83898(x52), 83912.
Schedule / Turnaround Time: Report availability is one week from the time of specimen receipt.
Specimen Requirements:

Specimen should remain at ambient temperature without refrigeration. Collect 5 ml of uncoagulated whole blood in EDTA (purple top tubes) or in ACD (yellow top tubes).


Most frequently the genetic markers associated with celiac disease are HLA-DQα1*05:01 in conjunction with HLA-DQβ1*02:01. Less frequently associated genes are HLA-DQα1*03:01 in conjunction with HLA-DQβ1*03:02. Generally, the HLA-DQα1 marker should be found in conjunction with its corresponding HLA-DQβ1 marker to be considered clinically significant. The presence of these markers does not provide a definitive diagnosis for celiac disease however their absence strongly suggests a diagnosis other than celiac disease.