| 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: | PMP22 DNA Sequencing Test
PMP22 Duplication/Deletion Test |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| 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. |
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.
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 |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 21-28 days |
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