PMP22 Duplication/Deletion Test

Test Code

824

Alias/See Also

LAB15134

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 (0-3 Years): 2 mL whole blood

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.

Sample must arrive in Chantilly Monday through Thursday AM within 24 hours of collection

Transport Temperature

Room temperature

Specimen Stability

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

Methodology
Multiplex Ligation-dependent Probe Amplification (MLPA)

FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Sun, Mon; Report available: 14-28 days

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.