Celiac Disease (HLA-DQ2, and HLA-DQ8) Genotyping

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.