Ordering Recommendation

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.

Mnemonic
HLA CELIAC
Methodology

Polymerase Chain Reaction/Fluorescence Monitoring

Performed

Varies

Reported

7-10 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

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

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.
Inheritance
: Multifactorial.
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.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81383; 81376 x2

Components
Component Test Code* Component Chart Name LOINC
2005019 Celiac (HLA-DQA1*05) 57090-3
2005020 Celiac (HLA-DQB1*02) 57091-1
2005021 Celiac (HLA-DQ8) 41283-3
2005022 Celiac HLA Interpretation 48767-8
2011755 HLA Celiac Specimen 31208-2
* 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
Celiac Disease (HLA-DQ2, and HLA-DQ8) Genotyping