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Test Catalog
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Emery-Dreifuss Muscular Dystrophy Evaluation |
#569 |
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
Progressive skeletal muscle weakening, contractures of major tendons, and potentially fatal cardiac conduction defects. |
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| Disease(s) tested for: |
Emery-Dreifuss Muscular Dystrophy |
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| Test Details |
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| Test Code: |
569 |
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| Profile includes: |
EMD Sequencing Test, Lamin A/C DNA Sequencing Test
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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: |
Detects mutations in the EMD and LMNA genes |
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| Methodology: |
DNA sequencing |
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| Reference Value: |
No sequence alteration detected in EMD and LMNA |
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| CPT Code(s): |
83891(1), 83898(17), 83904(17), 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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| Storage Conditions: |
Refrigerate |
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| Shipping Conditions: |
Ship same day. Must arrive at Athena on a weekday.
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| Test Turnaround: |
4-5 weeks |
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