Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping
2005018
Ordering Recommendation
Do not use in the initial evaluation for celiac disease. Useful in ruling out celiac disease (CD) (high negative predictive value) in selective clinical situations such as
•Equivocal small-bowel histologic finding (Marsh I-II) in seronegative individuals
•Evaluation of individuals on a gluten-free diet (GFD) in whom no testing for CD was done before GFD
Mnemonic
HLA CELIAC
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Varies
Reported
10 days  
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
Specimen Required
Patient Preparation
  
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
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
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
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81383, 81376 x2
Components
Component Test Code*Component Chart Name
2005019Celiac (HLA-DQA1*05)
2005020Celiac (HLA-DQB1*02)
2005021Celiac (HLA-DQB1*03:02)
2005022Celiac HLA Interpretation
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Celiac Disease genotyping
  • DQ2
  • DQ8
  • HLA Celiac Disease Testing
  • HLA DQ
  • HLA genotyping for Celiac Disease
  • HLA-DQ
  • HLA-DQ; HLA DQ
  • HLA-DQ2
  • HLA-DQ8
  • HLA-DQA1*05, HLA-DQB1*02, & *03