| Test code: | 131 |
| Type of disorder: | Peripheral Neuropathy, Hereditary |
| Disease(s) tested for: | Charcot-Marie-Tooth Disease (CMT), Type 1A (CMT1A) |
| Genes Included: | PMP22, |
| Profiles that contain this test: | CMT Advanced Evaluation - Comprehensive CMT Advanced Evaluation - Dominant CMT Advanced Evaluation - Dominant, Demyelinating CMT Advanced Evaluation - Initial Genetic Assessment CMT Advanced Evaluation – Demyelinating Complete HNPP Evaluation Entrapment Neuropathy Evaluation Multifocal Motor Neuropathy Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Patents: | 5599920 5645993 5780223 |
| Clinical Significance: | Detects rearrangements in the PMP22 gene. This test performs both duplication and deletion analysis to detect the cause of CMT1A and HNPP. Typical Presentation: CMT with a family history of a PMP22 duplication or a deletion identified in a proband |
| Methodology: | Multiplex Ligation-dependent Probe Amplification (MLPA) |
| Reference Range: | CMT1A: Normal- no duplication; HNPP: Normal- no deletion |
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) |
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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