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Arup Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping
MessageCollect at NMCP only Mon-Thursday by 1200
Test Code
2005018
Alias/See Also
Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping
Preferred Specimen
3 mL whole blood Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Minimum Volume
1mL
Instructions
Do not use to screen for celiac disease. Do not use in the initial evaluation for celiac disease
Transport Temperature
Room temperature or refrigerated.
Specimen Stability
Ambient: 1 week; Refrigerated: 1 week; Frozen: Unacceptable
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring (PCR with melting curve analysis)
Report Available
10 days
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.
Clinical Significance
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.