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Test Catalog
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KSS/CPEO mtDNA Evaluation |
#514 |
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
Progressive external ophthalmoplegia |
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| Disease(s) tested for: |
Kearns Sayre syndrome, Chronic progressive external ophthalmoplegia |
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| Test Details |
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| Test Code: |
514 |
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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 deletions and rearrangements in mitochondrial DNA |
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| Methodology: |
Southern blot |
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| Reference Value: |
No sequence variation detected |
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| CPT Code(s): |
83891(1), 83892(1), 83894(1), 83896(1), 83897(1), 83912(1) |
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| Patents: |
N/A |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Muscle tissue |
| Minimum Volume: |
100mg |
| Collection Tube: |
Cryovial |
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| Storage Conditions: |
Freeze immediately in liquid nitrogen; then store at -70° celsius |
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| Shipping Conditions: |
Ship frozen (10 lbs dry ice). Ship using a Muscle Biopsy Shipping Container, provided by Athena. |
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| Test Turnaround: |
6 Weeks |
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