ARUP's Laboratory Test Directory

Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping : 2005018
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HLA Test Request Form Recommended
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Additional Technical Information


Mnemonic: HLA CELIAC

Ordering Recommendation: Do not use to screen for celiac disease. Do not use in the initial evaluation for celiac disease.
Methodology: Polymerase Chain Reaction/Fluorescence Monitoring
Performed: Varies
Reported: 10 days
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Room temperature or refrigerated.

Stability (collection to initiation of testing): Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
By report
Interpretive Data: Background Information for Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping:
Characteristics: Celiac disease is a systemic autoimmune disorder that may be associated with gastrointestinal symptoms including: diarrhea, weight loss, anorexia, lactose intolerance, and abdominal distention and discomfort. Non-gastrointestinal characteristics are highly variable and include: chronic fatigue, joint pain/inflammation, migraines, epilepsy, depression, attention deficit disorder, iron-deficiency anemia, vitamin deficiency, osteoporosis/osteopenia, short stature, delayed puberty, dental enamel defects, infertility, recurrent fetal loss, and dermatitis herpetiformis.
Incidence: One in 133 individuals in the US is affected.
Inheritance: Multifactorial.
Cause: The presence of either the HLA-DQB*02/DQA*05 heterodimer or the HLA-DQB*03:02 allele in combination with dietary gluten.
Alleles tested: HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02.
Clinical Sensitivity and Specificity: Approximately 100 percent and 3 percent, respectively.
Methodology: PCR with melting curve analysis.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors may occur due to primer site mutations. Copy number of each detected allele will not be determined. Alleles other than HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02 will not be identified. Other genetic and non genetic factors that influence celiac disease are not evaluated.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
CPT Code(s): 81377 x 2, 81383
Cross References: DQ2 (Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping) , DQ8 (Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping) , Gluten-Sensitive Enteropathy (Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping) , HLA-DQA1*05, HLA-DQB1*02, & *03 (Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping) , Nontropical Sprue (Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping)