Do not use in the initial evaluation for celiac disease. Useful in ruling out celiac disease in selective clinical situations, such as equivocal small bowel histologic finding or individuals on a gluten-free diet not tested for celiac disease prior to starting the diet.
Polymerase Chain Reaction/Fluorescence Monitoring
New York DOH Approval Status
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Frozen specimens in glass collection tubes.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Background Information for Celiac Disease (HLA-DQ2, and HLA-DQ8) 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.
Cause: The presence of either the HLA-DQ2 or the HLA-DQ8 allele in combination with dietary gluten.
Alleles tested: HLA-DQ2 (encoded by HLA-DQA1*05 and HLA-DQB1*02) and HLA-DQ8 (encoded by 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-DQ2 and HLA-DQ8 will not be identified. Other genetic and non-genetic factors that influence celiac disease are not evaluated.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
81383; 81376 x2
|Component Test Code*||Component Chart Name||LOINC|
|2005022||Celiac HLA Interpretation||48767-8|
|2011755||HLA Celiac Specimen||31208-2|
- Celiac Disease genotyping
- HLA Celiac Disease Testing
- HLA DQ
- HLA genotyping for Celiac Disease
- HLA-DQ; HLA DQ
- HLA-DQA1*05, HLA-DQB1*02, & *03