Athena Diagnostics - Testing that Makes a Difference
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Calpain 3 DNA Sequencing Test #563
Type of Disorder: Neuromuscular Disorders
Typical Presentation: Face-sparing, proximal > distal progressive myopathy with elevated CK. Age of onset ranges from infancy to late adulthood. May involve cardiac or respiratory complications.
Disease(s) tested for: LGMD2A, Calpainopathy
Test Details
Test Code: 563
Profiles that contain this test: Limb Girdle Muscular Dystrophy Evaluation
Informed Consent Required: Yes
Medicare ABN Required: Yes
Special Notes: N/A
Technical Information
Utility: Detects sequence variations in the CAPN3 gene
Methodology: DNA sequencing
Reference Value: No sequence variations detected
CPT Code(s): 83891(1), 83898(22), 83904(22), 83909(1), 83912(1)
Patents: N/A
Shipping Considerations
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 20ml
Collection Tube: Lavender top
Storage Conditions: Must be refrigerated
Shipping Conditions: Ship at room temperature or on ice pack. Ship Monday - Thursday only.
Test Turnaround: 4-6 weeks
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