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HelpTest Code LAB1231913 Celiac Associated HLA-DQ Alpha 1 and DQ Beta 1 DNA Typing, Blood
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Reporting Name
Celiac Associated HLA-DQ TypingSpecimen Type
Whole Blood ACD-BOrdering Guidance
Cascade testing is recommended for celiac disease. Cascade testing ensures that testing proceeds in an algorithmic fashion. The following cascades are available; select the appropriate one for your specific patient situation.
-CDCOM / Celiac Disease Comprehensive Cascade, Serum and Whole Blood: complete testing including HLA DQ
-CDSP / Celiac Disease Serology Cascade, Serum: complete testing excluding HLA DQ
-CDGF / Celiac Disease Gluten-Free Cascade, Serum and Whole Blood: for patients already adhering to a gluten-free diet
To order individual tests, see Celiac Disease Diagnostic Testing Algorithm.
Specimen Required
Container/Tube: Yellow top (ACD Solution A or B)
Specimen Volume: 6 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood ACD-B | Refrigerated (preferred) | |
| Ambient | ||
Specimen Minimum Volume
3 mL
Special Instructions
Day(s) Performed
Monday through Friday
Specimen Retention Time
14 daysReport Available
3 to 8 daysReference Values
An interpretive report will be provided.
Useful For
Assessing risk of celiac disease
Testing Algorithm
The following algorithms are available:
-Celiac Disease Comprehensive Cascade Test Algorithm
-Celiac Disease Diagnostic Testing Algorithm
-Celiac Disease Gluten-Free Cascade Test Algorithm
CPT Code Information
81376 x 2-HLA Class II typing, low resolution (eg, antigen equivalents); one locus (eg, HLA-DRB1/3/4/5, -DQB1, -DQA1, -DPB1, or -DPA1), each
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| CELI | Celiac Associated HLA-DQ Typing | 94492-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| DQA | DQ alpha 1 | 94495-9 |
| DQB | DQ beta 1 | 53938-7 |
| CELIG | Celiac gene pairs present? | 48767-8 |
| CELIC | Interpretation | 69048-7 |
Supportive Data
This figure shows the risk gradient of tissue transglutaminase (tTG) IgA positivity according to the HLA-DQ haplotype combination. Compared with patients who had non-permissive HLA-DQ heterodimers, patients who had HLA-DQ2 homozygosity (HLA-DQ2.5/DQ2.5, HLA-DQ2.5/DQ2.2, or HLA-DQ2.2/DQ2.2) showed increased odds for tTG-IgA positivity (OR =96.9; 95% CI, 58.3–147.9, p < .0001). Patients with 1 copy of HLA-DQ2.5 also had increased odds for tTG-IgA positivity, and, interestingly, the odds for patients who were compound heterozygous for HLA-DQ2.5 and HLA-DQ8 (OR =42.3; 95% CI, 25.2–71.0, p < .0001) were similar to those for HLA-DQ2.5 heterozygotes (OR =36.8; 95% CI, 23.3–57.9, p < .0001), suggesting that a single HLA-DQ8 haplotype may not provide additional risk for tTG-IgA positivity. HLA-DQ8 carriers also showed increased odds for tTG-IgA positivity.(2)
Forms
If not ordering electronically, complete, print, and send Gastroenterology and Hepatology Test Request (T728) with the specimen.