PMP22 Duplication/Deletion Test

Test Code

92431

CPT Codes
81324<br /> *** Restricted Use*** This code is available for Client #54840, 55738, 56176, 54279, 51618, 51921, 57748, 55851, 53814, 54329, Kaiser All and LAC ONLY.

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Includes

Detects rearrangements in the PMP22 gene. This test performs both duplication and deletion analysis to detect the cause of CMT1A and HNPP.

Preferred Specimen

8 mL whole blood collected in an EDTA (lavender-top) tube
Pediatric: 2 mL

Minimum Volume

6 mL
Pediatric: 1 mL

Instructions

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable

Methodology
Multiplex Ligation-dependent Probe Amplification (MLPA)

Setup Schedule

Sets up 2 days a week.

Clinical Significance

Detects rearrangements in the PMP22 gene. This test performs both duplication and deletion analysis to detect the cause of CMT1A and HNPP.

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.