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Test Catalog
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Connexin Related Deafness Evaluation |
#329 |
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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: |
329 |
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| Profile includes: |
Connexin 26 DNA Sequencing Test, Connexin 30 DNA Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Connexin 26 mutations are thought to be the most prevalent cause of prelingual, hereditary, sensorineural hearing loss. A deletion in the Connexin 30 gene by itself or in conjuction with a Connexin 26 mutation has also been discovered to cause this disorder. |
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| Technical Information |
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| Utility: |
Detects mutations in the GJB2 gene and detects a deletion in the GJB6 gene |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA sequencing |
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| Reference Value: |
No Mutation or Deletion Detected |
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| CPT Code(s): |
83891(1), 83898(3), 83894(1), 83904(3), 83909(1), 83912(1) |
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| Patents: |
5,998,147, 6,485,908, 7,258,975 |
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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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