Sign in →

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

Method Description

LABType applies Luminex technology to the reverse sequence-specific oligonucleotide (SSO) DNA typing method. First, target DNA is polymerase chain reaction (PCR)-amplified using a group-specific primer. The PCR product is biotinylated, which allows it to be detected using R-phycoerythrin-conjugated streptavidin. The PCR product is denatured and allowed to rehybridize to complementary DNA probes conjugated to fluorescently coded microspheres. A flow analyzer identifies the fluorescent intensity of phycoerythrin on each microsphere. The HLA Class II allele or allele groups of the sample is determined by the positive and negative bead ID's using a computer software program. The assignment of the HLA typing is based on the reaction pattern compared to patterns associated with published HLA gene sequences.(Package insert: LABType SSO Typing. One Lambda; Version 04, 11/11/2019)

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.