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.
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
Room temperature or 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
Note
CPT Code(s)
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, contact interface support at interface.support@aruplab.com.
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 DQ
  • HLA genotyping for Celiac Disease
  • HLA-DQ
  • HLA-DQ2
  • HLA-DQ8
  • 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)