Reference Interval:
By report
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| 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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
83891 Isolation; 83898 Amplification; 83900 Multiplex amplification; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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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-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)
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