Test Catalog

Test Id : CELI

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

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Overview

Test Catalog

Useful For
Suggests clinical disorders or settings where the test may be helpful

Assessing risk of celiac disease

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Method Name
A short description of the method used to perform the test

Polymerase Chain Reaction (PCR)/Sequence-Specific Oligonucleotide Probe (SSO)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Celiac Associated HLA-DQ Typing

Aliases
Lists additional common names for a test, as an aid in searching

HLA Celiac Disease Testing

Celiac HLA

DQ2

DQ8

HLAD Q2

HLAD Q8

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Specimen Type
Describes the specimen type validated for testing

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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

3 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

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

Useful For
Suggests clinical disorders or settings where the test may be helpful

Assessing risk of celiac disease

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Celiac disease (gluten-sensitive enteropathy) is mediated by T lymphocytes in patients with genetic susceptibility. This genetic association is with certain HLA genes in the class II region (DQ alpha 1, DQ beta 1).

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

Most (90%-95%) patients with celiac disease have 1 or 2 copies of HLA-DQ2 haplotype (see below), while the remainder have HLA-DQ8 haplotype. Rare exceptions to these associations have been occasionally seen. In one study of celiac disease, only 0.7% of patients with celiac disease lacked the HLA alleles mentioned above. Results are reported as permissive, nonpermissive, or equivocal gene pairs.

 

It is important to realize that these genes are also present in about 20% of people without celiac disease. Therefore, the mere presence of these genes does not prove the presence of celiac disease or that genetic susceptibility to celiac disease is present.

 

The HLA-DQ molecule is composed of 2 chains: DQ alpha (encoded by HLA-DQA1 gene) and DQ beta (encoded by HLA-DQB1 gene). HLA-DQ typing can be performed by serological or molecular methods. Currently, most laboratories perform typing by molecular methods. HLA-DQ2 and DQ8, as typed by serology, are usually based on the molecular typing of the DQB1 chain only. The current molecular method allows typing for both the DQB1 and DQA1 chains. This has shown that there are different haplotypes of HLA-DQ2 and DQ8. Typing of these haplotypes is important in celiac disease as they carry different risk association.

 

There are 2 common haplotypes of DQ2:

1. DQA1*05:01 with DQB1*02:01, also called DQ2.5 in celiac literature

2. DQA1*02:01 with DQB1*02:02, also called DQ2.2 in celiac literature

A single haplotype (heterozygote) of DQ2.5 is permissive for presence of celiac genes. However, only a double haplotype (homozygous) of DQ2.2 is permissive for presence of celiac genes. There are few reports where a single haplotype of DQ2.2 is considered to be an equivocal risk. In some cases, the DQ2.2 haplotype may be present with a DQ7.5 haplotype (DQA1*05:05 with DQB1*03:01). In this case, a DQ2.5 molecule can be formed by the combination of DQB1*02:02 from one chromosome and DQA1*05:05 from the other chromosome. These cases fall in the same category as the DQ2.5 heterozygote.

 

There are 3 common haplotypes of DQ8:

1. DQA1*03:01 with DQB1*03:02

2. DQA1*03:02 with DQB1*03:02

3. DQA1*03:03 with DQB1*03:02

Any single haplotype (heterozygote) of DQ8 is permissive for celiac.

 

Therefore, the gene pairs permissive for celiac are:

1. Heterozygote (single copy)

-DQA1*05:XX with DQB1*02:01

-DQA1*05:XX with DQB1*02:02

-DQA1*03:XX with DQB1*03:02

2. Homozygous (2 copies)

-DQA1*02:01 with DQB1*02:02

 

Gene pairs equivocal for celiac are:

1. Heterozygote (single copy)

-DQA1*02:01 with DQB1*02:02

2. Rare allele's types of DQ2 and DQ8 other than those listed above

 

All other gene pair combinations are considered nonpermissive for celiac.

 

There are reports that specific HLA-DQ2 and DQ8 combinations may confer different risks for the development of celiac disease.(1)

 

A recent publication from our group demonstrated that risk gradient of tissue transglutaminase (tTG) IgA positivity depends on specific HLA-DQ2 and DQ8 combinations.(2) For more information see Tissue Transglutaminase IgA positivity.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Based on the catalog of common, intermediate, and well-documented alleles in the world population,(3), certain intermediate or common alleles in some ethnicities may not be resolved.

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)

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Pietzak MM, Schofield TC, McGinniss MJ, Nakamura RM: Stratifying risk for celiac disease in a large at-risk United States population by using HLA alleles. Clin Gastroenterol Hepatol. 2009;7(9):966-971. doi:10.1016/j.cgh.2009.05.028

2. Choung RS, Mills JR, Snyder MR, Murray JA, Gandhi MJ: Celiac disease risk stratification based on HLA-DQ heterodimer (HLA-DQA1 approximately DQB1) typing in a large cohort of adults with suspected celiac disease. Hum Immunol. 2020;81(2-3):59-64. doi:10.1016/j.humimm.2020.01.006

3. Hurley CK, Kempenich J, Wadsworth K, et al: Common, intermediate and well-documented HLA alleles in world populations: CIWD version 3.0.0. HLA. 2020;95(6):516-531. doi:10.1111/tan.13811

4. Polvi A, Arranz E, Fernandez-Arequero M, et al: HLA-DQ2-negative celiac disease in Finland and Spain. Hum Immunol. 1998;59(3):169-175

5. Husby S, Murray JA, Katzka DA: AGA Clinical Practice Update on Diagnosis and Monitoring of Celiac Disease-Changing Utility of Serology and Histologic Measures: Expert Review. Gastroenterology. 2019;156(4):885-889. doi:10.1053/j.gastro.2018.12.010

6. Raiteri A, Granito A, Giamperoli A, Catenaro T, Negrini G, Tovoli F: Current guidelines for the management of celiac disease: A systematic review with comparative analysis. World J Gastroenterol. 2022;28(1):154-175. doi:10.3748/wjg.v28.i1.154

Method Description
Describes how the test is performed and provides a method-specific reference

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)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 8 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

14 days

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their account representative. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test has been modified from the manufacturer's instructions. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

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® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
CELI Celiac Associated HLA-DQ Typing 94492-6
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
DQA DQ alpha 1 94495-9
DQB DQ beta 1 53938-7
CELIG Celiac gene pairs present? 48767-8
CELIC Interpretation 69048-7

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | PHP Pdf | CMS Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports