Test Specifications
Specimen collection and processing information
Age Limit
None. This test can be taken at any age (including newborns).
Collection Method
Buccal swabs (the test kit contains buccal swabs and instructions for collecting a buccal swab sample from inside the mouth).
Specimen Requirements
4 Buccal swabs, rubbed inside the mouth against the cheek for 15 seconds. Ingestion of gluten is not required.
Testing Time
1 to 2 weeks.
Alleles Tested
Direct detection of three celiac disease-associated alleles:
- HLA-DQA1*05
- HLA-DQA1*02
- HLA-DQB1*0302
Testing Methodology
Laboratory specimens are analyzed using sequence-based typing (SBT) to detect the presence of three HLA alleles which are known to be associated with celiac disease: HLA-DQA1*05, HLA-DQB1*02 and HLA-DQB1*0302. Analytical specificity and sensitivity for detection of these alleles are >99%. Other alleles not listed are not detected.
Sample Handling
DNA test kits do not have an expiry date and can be used at any time. Once the DNA sample is collected, it must be returned to the laboratory for testing within 3 months of collection. No refrigeration is required. Store at room temperature.
Limitations
Greater than 95% of individuals with celiac disease have specific celiac disease-associated alleles in the HLA-DQA1 and HLA-DQB1 genes (HLA-DQA1*05, HLA-DQB1*02 and HLA-DQB1*0302). The presence of celiac disease-associated HLA alleles implies an increased risk for celiac disease. Since only a minor subset of individuals with celiac disease-associated alleles will develop celiac disease, the detection of these alleles alone is not sufficient for a diagnosis of celiac disease.
Alleles other than HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*0302 will not be identified. Other genetic and non-genetic factors that influence celiac disease are not evaluated.
