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Test Catalog
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Calpain 3 DNA Sequencing Test |
#563 |
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| Type of Disorder: |
Neuromuscular Disorders |
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| 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. |
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| Disease(s) tested for: |
LGMD2A, Calpainopathy |
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| Test Details |
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| Test Code: |
563 |
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| Profiles that contain this test: |
Limb Girdle Muscular Dystrophy Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
N/A |
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| Technical Information |
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| Utility: |
Detects sequence variations in the CAPN3 gene |
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| Methodology: |
DNA sequencing |
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| Reference Value: |
No sequence variations detected |
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| CPT Code(s): |
83891(1), 83898(22), 83904(22), 83909(1), 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 |
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| Storage Conditions: |
Must be refrigerated |
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| Shipping Conditions: |
Ship at room temperature or on ice pack. Ship Monday - Thursday only. |
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| Test Turnaround: |
4-6 weeks |
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