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Spastin (SPG4) Deletion Test #534
Type of Disorder: Motor Neuron Disease
Typical Presentation: Lower limb spasticity and weakness
Disease(s) tested for: Autosomal Dominant Hereditary Spastic Paraplegia
Test Details
Test Code: 534
Profiles that contain this test: Complete Hereditary Spastic Paraplegia Evaluation
Informed Consent Required: Yes
Medicare ABN Required: Yes
Special Notes: For clinical support on test ordering or result interpretation, please contact Athena's genetic counselors or lab directors.
Technical Information
Utility: Detects deletions in the Spastin (SPG4) gene
Methodology: Multiplex Ligation-dependent Probe Analysis
Reference Value: All exons present
CPT Code(s): 83891(1), 83896(20), 83900(1), 83901(18), 83914(20), 83909(1), 83912(1)
Shipping Considerations
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 10 mL
Collection Tube: Lavender top (EDTA)
Storage Conditions: Refrigerate
Shipping Conditions: Room temperature. Ship within 24 hours, Monday-Thursday only
Test Turnaround: 14-21 days
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