Arup Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping

Message
Collect 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.




The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.