Complete HNPP Evaluation

Test Code
243

Test Details


Test code: 243
Type of disorder: Peripheral Neuropathy, Hereditary
Disease(s) tested for: Charcot-Marie-Tooth Disease (CMT), Type 1A (CMT1A), Hereditary Neuropathy with Susceptibility to Pressure Palsies (HNPP)
Genes Included: PMP22
Tests included:
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


Clinical Significance: Detects duplications/deletions and sequence variants in the PMP22 gene.

Typical Presentation: Individuals with transient focal or multifocal compression neuropathy, may involve pain, numbness and mild weakness
Methodology: Next Generation Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA)
Reference Range: No duplications/deletions detected, no sequence variants detected.

CPT Coding


The CPT codes provided 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 payer being billed.

CPT: 81324(1), 81325(1)

Specimen Requirements


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

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum)
Instructions: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 21-28 days

Additional Resources

Letters of Medical Necessity

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