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Test Catalog
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BSCL2 DNA Sequencing Test |
#631 |
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| Type of Disorder: |
Motor Neuron Disease |
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| Typical Presentation: |
Insidiously progressive spasticity and weakness of the legs, urinary urgency and high arched feet are often present; clinical variability between family members with the same mutation may exist. SPG17 is associated with both pure and complicated forms of HSP, Silver Syndrome, dHMN type 5, and CMT type 2D and is characterized by amyotrophy and weakness of the small muscles of the hands in addition to lower limb spasticity. |
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| Indications for Testing: |
To confirm a specific diagnosis or prognosis of known BSCL2-related HSP. |
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| Disease(s) tested for: |
Hereditary Spastic Paraplegia |
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| Test Details |
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| Test Code: |
631 |
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| Profiles that contain this test: |
Autosomal Dominant HSP Evaluation, 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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| Technical Information |
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| Utility: |
Detect mutations in BSCL2 providing ability to confirm a specific diagnosis. |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA Sequencing |
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| Reference Value: |
No mutations detected. |
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| CPT Code(s): |
83891(1), 83898(11), 83904(11), 83909(1), 83912(1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Shipping Conditions: |
Room temperature, avoid freezing, ship within 24 hours Monday - Friday |
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| Test Turnaround: |
4-6 weeks |
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