| Category: |
Gastroenterology & Hepatology Immunogenetics |
|---|---|
| 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). |
| Relevance: |
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. |