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Test Catalog
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COL4A5 Deletion Analysis |
#756 |
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| Type of Disorder: |
Kidney Disorders |
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| Typical Presentation: |
Early onset of renal failure, with esophageal dysfunction, genital leiomyomas, and occasional posterior cataract.
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| Disease(s) tested for: |
Alport Syndrome |
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| Test Details |
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| Test Code: |
756 |
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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 deletions in the COL4A5 gene |
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| Methodology: |
Multiplex Ligation-dependent Probe Amplification |
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| Reference Value: |
No deletion detected in COL4A5 |
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| CPT Code(s): |
83891(1), 83896(55), 83900(1), 83901(53), 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: |
Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday. |
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| Test Turnaround: |
6-8 weeks |
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