| Test code: | 620 |
| Type of disorder: | Motor Neuron Disorders |
| Disease(s) tested for: | Familial amyotrophic lateral Sclerosis (FALS) |
| Genes Included: |
SOD1, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations in the superoxide dismutase (SOD1) gene. 20% of adult-onset familial ALS cases are associated with SOD1 mutations.
Typical Presentation: Lower and upper motor neuron disease |
| Methodology: |
Next Generation Sequencing
|
| Reference Range: | No mutation 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: | 21-28 days |
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