| Test code: | 463 |
| Type of disorder: | Peripheral Neuropathy, Hereditary |
| Disease(s) tested for: | Charcot-Marie-Tooth Disease (CMT), Type 2L (CMT2L) |
| Genes Included: | HSPB8, |
| 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 - Nonprevalent CMT Advanced Evaluation - Nonprevalent Axonal |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects sequence variants in the HSPB8 gene Typical Presentation: Symmetric, slowly progressive distal sensory and motor polyneuropathy of the arms and legs resulting in muscle weakness and atrophy of the hands and feet. Foot deformities are common. Family history may or may not be present. |
| 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: | 81479(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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