Celiac Disease HLA-DQ Genotyping
Also known as: HLACELIAC
Use
Celiac disease is a systemic autoimmune disease affecting the gastrointestinal system, triggered by gluten exposure in genetically susceptible individuals. The presence of specific alleles, including HLA-DQ2 or HLA-DQ8, is linked to celiac disease. This test is useful for ruling out celiac disease in certain clinical situations, such as when a patient has started a gluten-free diet before testing or when small bowel histology results are equivocal. It helps identify genetic risk, particularly in individuals with a family history of celiac disease.
Special Instructions
Counseling and informed consent are recommended prior to genetic testing. Storage and transport conditions must be adhered to, and certain specimen conditions, such as clotted or hemolyzed samples, are unacceptable.
Limitations
There may be rare diagnostic errors due to primer site mutations. Other genetic and non-genetic factors influencing celiac disease are not evaluated. In some cases, HLA alleles may not be resolved unambiguously, and the assignment will be based on the most common allele frequencies. The presence of the tested alleles supports a clinical diagnosis but should not be solely relied upon as diagnostic of celiac disease.
New York Approved
Methodology
NGS
Biomarkers
LOINC Codes
- 48767-8
- 57299-0
- 59019-0
Result Turnaround Time
8-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA) or Yellow (ACD solution A)
Causes for Rejection
Specimens collected in yellow (ACD solution B), clotted, grossly hemolyzed, or heparinized specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |