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Specimen Collection Manual and Test Catalog

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HLA TYPING FOR CELIAC DISEASE

Geisinger Epic Procedure Code:  LAB2483    Geisinger Epic ID:  41912

SPECIMEN COLLECTION
Specimen type: 

Whole blood


Preferred collection container: 
Alternate collection container: 
10 mL green/green-top (sodium heparin) tube
Specimen required: 

5 mL whole blood; minimum 3 mL


Special notes: 

A separate tube must be submitted for all HLA testing. Do not open tube.



SPECIMEN PROCESSING
Transport temperature: 

Room temperature.


Specimen stability: 

Room temperature: 7 days. Refrigerated: 7 days. Frozen: Unacceptable.


Rejection criteria: 

Frozen specimen. Clotted specimen.



TEST DETAILS
CPT code(s):  81382 x2, 81376 x2
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.

Test includes: 

HLA typing for celiac disease. HLA-DQ2 (DQA1*05/DQB1*02), HLA-DQ8 (DQA1*03/DQB1*0302), HLA-DQA1*, HLA-DQB1*


Methodology: 
Polymerase Chain Reaction Amplification/Sequence Specific Oligonucleotide Probes (PCR-SSO)
Synonyms: 

Quest test code 17135, HLACEL


Clinical significance: 

Celiac disease is a multigenic immune-mediated enteropathy triggered by dietary proteins, commonly known as glutens, present in wheat, barley, and rye. Varied clinical manifestations begin either in childhood or adult life. Its prevalence in the united states ranges from 0.5 to 1%. Celiac disease is strongly associated with the HLA genetic region. Approximately 90% of celiac patients express the HLA-DQ2 molecule. Most of the DQ2 negative patients express the HLA-DQ8 molecule. Gluten peptides presented by these HLA molecules induce an abnormal mucosal immune response and tissue damage. The HLA-DQ molecules are heterodimers of an alpha and a beta chain. The beta chain of HLA-DQ2 is coded by HLA-DQB1 * 02 and of DQ8 by HLA-DQB1 * 0302. HLA-DQB1 genotyping allows clinicians to evaluate the genetic predisposition for celiac disease in a patient.


Review Date:  12/04/2024

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