| Test code: | 134 |
| Type of disorder: | Peripheral Neuropathy, Hereditary |
| Disease(s) tested for: | Charcot-Marie-Tooth Disease (CMT), Type 1B (CMT1B), Charcot-Marie-Tooth Disease (CMT), CMT2I (CMT Type 2I), Charcot-Marie-Tooth Disease (CMT), CMT Type 2J (CMT2J) |
| Genes Included: | MPZ, |
| Profiles that contain this test: | CMT Advanced Evaluation - Axonal CMT Advanced Evaluation - Comprehensive CMT Advanced Evaluation - Dominant CMT Advanced Evaluation - Dominant, Axonal CMT Advanced Evaluation - Dominant, Demyelinating CMT Advanced Evaluation - Initial Genetic Assessment CMT Advanced Evaluation – Demyelinating Congenital Hypomyelination Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Patents: | 5,876,927 5,723,593 |
| Clinical Significance: | Detects sequence variations in the Myelin Protein Zero gene Typical Presentation: CMT with a family history of MPZ mutations identified in a proband |
| Methodology: | Next Generation Sequencing |
| Reference Range: | 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: | 81405(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: | 21-28 days |
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