Outage notice:
Due to the global information outage that occurred this morning, Athena is taking swift action to respond, recover and restore our operations. We appreciate your patience as we work toward returning to normal operations.
| Test code: | 227 |
| Type of disorder: | Peripheral Neuropathy, Hereditary |
| Disease(s) tested for: | Charcot-Marie-Tooth Disease (CMT), Type 2B (CMT2B) |
| Genes Included: | RAB7A, |
| 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 RAB7A gene Typical Presentation: Sensory loss, feet ulcerations, distal motor weakness, hyperkeratosis |
| 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 |
Home