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Test Catalog
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Connexin 26 DNA Sequencing Test |
#321 |
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| Type of Disorder: |
Hearing Loss |
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| Typical Presentation: |
Pediatric nonsyndromic hearing loss |
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| Disease(s) tested for: |
Hearing loss, Deafness |
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| Test Details |
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| Test Code: |
321 |
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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: |
The Connexin 26 mutation is thought to be the most prevalent cause of prelingual, hereditary, sensorineural hearing loss. |
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| Technical Information |
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| Utility: |
Detects mutations in the GJB2 gene |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA sequencing |
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| Reference Value: |
No mutation detected |
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| CPT Code(s): |
83891(1), 83898(2), 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 |
| Type: |
Whole blood |
| Minimum Volume: |
10ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate |
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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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