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Test Catalog
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Spastin (SPG4) DNA Sequencing Test |
#530 |
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| Type of Disorder: |
Motor Neuron Disease |
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| Typical Presentation: |
Slowly progressive lower extremity weakness and spasticity |
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| Disease(s) tested for: |
Autosomal Dominant Hereditary Spastic Paraplegia |
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| Test Details |
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| Test Code: |
530 |
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| Profiles that contain this test: |
Complete Hereditary Spastic Paraplegia Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
The Complete Hereditary Spastic Paraplegia Evaluation (#527) is recommended unless a family member's mutation has been confirmed by prior molecular tests. |
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| Technical Information |
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| Utility: |
Detects mutations in the SPG4 gene |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA sequencing |
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| Reference Value: |
No mutation detected |
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| CPT Code(s): |
83891(1), 83898(18), 83904(18), 83909(1), 83912(1) |
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| Patents: |
6,924,126 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Alternate
Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10ml |
| Collection Tube: |
yellow top, ACD-A |
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| Storage Conditions: |
Refrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours, Monday - Thursday only. |
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| Test Turnaround: |
4-6 weeks |
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