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Test Code LAB1231913 Celiac Associated HLA-DQ Alpha 1 and DQ Beta 1 DNA Typing, Blood

Important Note

Mayo's test code: CELI

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Reporting Name

Celiac Associated HLA-DQ Typing

Specimen Type

Whole Blood ACD-B


Ordering 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

Extracted DNA Reject

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood ACD-B Refrigerated (preferred)
  Ambient 

Specimen Minimum Volume

3 mL

Day(s) Performed

Monday through Friday

Specimen Retention Time

14 days

Report Available

3 to 8 days

Reference Values

An interpretive report will be provided.

Useful For

Assessing risk of celiac disease

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 one copy of HLA-DQ2.5, or HLA-DQ2.5 heterozygotes, also have increased odds for developing tTG-IgA positivity (OR =36.8; 95% CI, 23.3–57.9, p < .0001). 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. This suggests 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.