|
Test Catalog
|
|
Connexin Related Deafness Evaluation |
#329 |
|
| Type of Disorder: |
Hearing Loss |
|
| Typical Presentation: |
Pediatric sensorineural non-syndromic hearing loss, Pediatric deafness |
|
| Indications for Testing: |
Pediatric sensorineural non-syndromic hearing loss, Pediatric deafness |
|
| Disease(s) tested for: |
Hearing loss, Deafness |
|
| Test Details |
|
| Test Code: |
329 |
|
| Profile includes: |
Connexin 26 DNA Sequencing Test, Connexin 30 DNA Test
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| 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. |
|
| Technical Information |
|
| Utility: |
Detects mutations in the GJB2 gene and detects a deletion in the GJB6 gene |
|
| Methodology: |
Polymerase Chain Reaction (PCR) and DNA sequencing |
|
| Reference Value: |
No Mutation or Deletion Detected |
|
| Patents: |
5,998,147, 6,485,908, 7,258,975 |
| CPT Coding |
|
|
The CPT codes provided are based on AMA guidelines
and are for informational purposes only. CPT coding
is the sole responsibility of the billing party.
Please direct any questions regarding coding to
the payer being billed.
|
| Stacked CPT Code(s): |
83891(1), 83898(3), 83894(1), 83904(3), 83909(1), 83912(1) |
|
| Shipping Considerations |
|
| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
|
| Preferred Specimen Requirements |
| Minimum Volume: |
10ml |
| Collection Tube: |
Lavender Top (EDTA) |
|
| Storage Conditions: |
Refrigerate, Avoid Freezing |
|
| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours, Monday -Thursday only |
|
| Test Turnaround: |
14-21 days |
|
|
|
