| Test code: | 296 |
| 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), Amyloidosis, Multifocal Neuropathy (MFN) |
| Tests included: | PMP22 DNA Sequencing Test PMP22 Duplication/Deletion Test TTR DNA Sequencing 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 and sequence variants in Transthyretin gene Typical Presentation: Weakness and pain with motor or sensory disturbances indicative of a focal or multifocal compression neuropathy |
| Methodology: | Sanger Sequencing , Multiplex Ligation-dependent Probe Amplification (MLPA) , Next Generation Sequencing |
| Reference Range: | CMT1A: Normal- no duplication; HNPP: Normal- no deletion. 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.
| CPT: | 81324(1), 81325(1), 81404(1) |
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: | 14-28 days |
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