Celiac Associated HLA-DQ Alpha 1 and DQ Beta 1 DNA Typing, Blood
Use
This test is used to assess genetic susceptibility for celiac disease by detecting the presence of specific HLA-DQ haplotypes associated with the condition. Celiac disease is a gluten-sensitive enteropathy mediated by T lymphocytes in genetically susceptible individuals. The association is strongly linked to certain HLA genes in the class II region, primarily HLA-DQ2 and HLA-DQ8. Most patients with celiac disease have these haplotypes, with the majority having one or two copies of HLA-DQ2, and others having HLA-DQ8.
Special Instructions
Not provided.
Limitations
Presence of these genetic markers does not conclusively diagnose celiac disease since they are also found in approximately 20% of the population without the disease. In rare cases, certain ethnicities may carry intermediate or common alleles that are unresolved by this test. Gene pairs that are determined to be equivocal for the presence of celiac are reported as such, and diagnostic confusion may arise due to improper specimen collection and handling or inappropriate test selection.
New York Approved
Methodology
PCR-based (SSO)
Biomarkers
LOINC Codes
- 94492-6 - HLA-DQA1 + HLA-DQB1 typing Pnl Bld/T
- 94495-9 - HLA-DQA1
- 53938-7 - HLA-DQB1
- 48767-8 - Annotation comment Imp
- 69048-7 - Immunologist review
Result Turnaround Time
3-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
3 mL
Container
Yellow top (ACD Solution A or B)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Causes for Rejection
Extracted DNA