Celiac Associated HLA-DQ genotyping
Test Mnemonic
CELIA
CPT Codes
- 81382 - QTY (1)
- 81382 - QTY (1)
Aliases
- HLA-DQ2/HLA-DQ8
Includes
- HLA-DQ2
- HLA-DQ8
Performing Laboratory
Allogen Laboratories
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 5 mL | Whole blood | EDTA (Lavender) | Ambient |
Alternate Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 7 mL | Whole blood | ACD A or B (Yellow) | Ambient |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | 1 week |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Days Performed
Mon - Fri
Turnaround Time
2 - 4 days
Methodology
| Name | Description |
|---|---|
| Polymerase Chain Reaction (PCR) | |
| Sequence Specific Oligonucleotide Probe (SSOP) |
Reference Range
Clinical Info
HLA-DQ genotyping HLA-DQA1: ------ HLA-DQB1: ------ Interpretation: The HLA-DQ genotype of the patient is/is NOT associated with increased risk of celiac disease. The strongest reported HLA associations with celiac disease include DQ2 (DQ2.5 or DQA1*05-DQB1*0201 & DQ2.2 or DQA1*02:01-DQB1*02:02) and DQ8 (DQA1*0301/DQB1*0302)1-3. This test is useful for family members of celiac patients and patients with negative serology results. This testing can rule out celiac disease with high negative predictive value (NPV) of 95 - 100% depending on the ethnic background. References: 1. Koskinen L, Romanos J, Kaukinen K, et al. Cost-effective HLA typing with tagging SNPs predicts celiac disease risk haplotypes in the Finnish, Hungarian, and Italian populations. Immunogenetics. 2009 Apr;61(4):247-56. 2. Sollid LM. Coeliac disease: dissecting a complex inflammatory disorder. Nat Rev Immunol. 2002 Sep;2(9):647-55. 3. Liu E, Lee HS, Aronsson CA, et al. Risk of pediatric celiac disease according to HLA haplotype and country. N Engl J Med. 2014 Jul 3;371(1):42-9.
Clinical Limitation
The identification of one of these HLA-DQ genotypes is not, by itself, sufficient for the diagnosis of celiac disease, since both DQ2 and DQ8 are relatively common in the general population.