•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
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable
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-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
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2005022||Celiac HLA Interpretation|
- 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