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Test Catalog
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Complete DMD Evaluation - Males |
#181 |
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
Male children exhibit high serum CK, early onset proximal>distal weakness with Gower's sign. Calf and tongue pseudohypertrophy are common. Some patients have mild mental retardation and most develop cardiomyopathy. |
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| Indications for Testing: |
Early onset myopathy with high CK |
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| Disease(s) tested for: |
Duchenne/Becker muscular dystrophy (DMD/BMD) |
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| Test Details |
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| Test Code: |
181 |
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| Profile includes: |
Partial DMD - del/dup only - Males
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
To minimize the cost of testing, Athena will first analyze all exons for deletions and duplications. If a disease-causing mutation is found in this analysis, Athena will send a final report describing the mutation. If no mutations are found in the first analysis or if the mutations cannot be confirmed, Athena will then perform sequence analysis of all 79 exons and send a final report indicating the findings of both the deletion/duplication and the sequence analysis. |
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| Technical Information |
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| Utility: |
Detects deletions, duplications, and small mutations in the dystrophin (DMD) gene |
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| Methodology: |
Dosage analysis and PCR, DNA sequencing of all exons on the DMD gene |
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| Reference Value: |
No duplications or deletions or sequence variants detected |
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| CPT Code(s): |
83891(1), 83896(80), 83898(79), 83900(1), 83901(78), 83904(79), 83909(80), 83912(1) |
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| Patents: |
5,621,091 |
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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: |
Refrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday |
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| Test Turnaround: |
6-8 weeks |
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