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Test Catalog
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Familial Amyotrophic Lateral Sclerosis (SOD1) DNA Test |
#620 |
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| Type of Disorder: |
Motor Neuron Disease |
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| Typical Presentation: |
Lower and upper motor neuron disease |
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| Disease(s) tested for: |
Familial amyotrophic lateral sclerosis (FALS) |
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| Test Details |
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| Test Code: |
620 |
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| Profiles that contain this test: |
Complete ALS Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations in the superoxide dismutase (SOD1) gene. 20% of adult-onset familial ALS cases are associated with SOD1 mutations. |
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| Methodology: |
Polymerase Chain Reaction (PCR), Single Strand Confirmation Polymorphism (SSCP) and DNA sequencing |
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| Reference Value: |
No mutation detected |
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| CPT Code(s): |
83891(1), 83898(5), 83904(5), 83912(1) |
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| Patents: |
N/A |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours of drawing. |
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| Test Turnaround: |
3 months |
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