| Test code: | 235 |
| Type of disorder: | Peripheral Neuropathy, Hereditary |
| Disease(s) tested for: | Familial Amyloidotic Polyneuropathy, Type 1 |
| Genes Included: |
TTR, |
| Profiles that contain this test: | Entrapment Neuropathy Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects sequence variants in the Transthyretin (TTR) gene
Typical Presentation: Individuals may present with one or more of distal limb sensory motor neuropathy, autonomic neuropathy, nephropathy, cardiopathy, arrhythmias, gastrointestinal abnormalities and carpal tunnel syndrome |
| Methodology: |
Sanger 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.
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. |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
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