HLA Typing for Celiac Disease

Test Code

17135

CPT Codes
81382 (x2), 81376 (x2)

Includes

HLA-DQ2 (DQA1*05/DQB1*02)
HLA-DQ8 (DQA1*03/DQB1*0302)
HLA-DQA1*
HLA-DQB1*

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

3 mL

Other Acceptable Specimens

Whole blood collected in: sodium heparin (green-top) tube, EDTA (pink-top), EDTA (royal blue-top) or sodium citrate (light blue-top) tube

Instructions

A separate EDTA (lavender-top) tube must be submitted for all HLA testing. If submitted with any other test requiring an EDTA tube, please submit a separate tube for this test. Do not open tube.

Transport Temperature

Room temperature

Specimen Stability

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

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Received frozen • Clotted

Methodology
Polymerase Chain Reaction Amplification followed by Sequence Specific Oligonucleotide Probes (PCR-SSO)

Setup Schedule

Sets up 7 days a week.

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.

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.