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PMP22 Duplication/Deletion Test
Test Code824
CPT Codes
81324
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 (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
This test requires physician attestation that patient consent has been received.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Stability Restrictions: Sample must arrive in Chantilly Monday through Thursday AM within 24 hours of collection
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Stability Restrictions: 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
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
Monday, Sunday Morning
Report available: 14 Days
Report available: 14 Days
Reference Range
See Laboratory Report
Clinical Significance
Detects rearrangements in the PMP22 gene. This test performs both duplication and deletion analysis to detect the cause of CMT1A and HNPP.
