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Test Catalog
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Connexin 30 DNA Test |
#319 |
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| Type of Disorder: |
Hearing Loss |
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| Typical Presentation: |
Pediatric sensorineural non-syndromic hearing loss, Pediatric deafness |
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| Indications for Testing: |
Pediatric sensorineural non-syndromic hearing loss, Pediatric deafness |
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| Disease(s) tested for: |
Hearing loss, Deafness |
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| Test Details |
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| Test Code: |
319 |
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| Profiles that contain this test: |
Connexin Related Deafness Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
A Connexin 30 deletion by itself or in conjunction with a Connexin 26 mutation has been discovered to cause pediatric non-syndromic sensorineural hearing loss. |
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| Technical Information |
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| Utility: |
Detects a deletion in the GJB6 gene |
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| Methodology: |
Polymerase Chain Reaction (PCR) |
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| Reference Value: |
No Deletion Detected |
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| CPT Code(s): |
83891(1), 83894(1), 83898(1), 83912(1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Minimum Volume: |
10ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate, Avoid Freezing |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours, Monday -Thursday only |
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| Test Turnaround: |
14-21 days |
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