| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Connexin Related Deafness Evaluation
Test Code90482
CPT Codes
81252, 81254<br><strong>CPT coding may differ dependent on payer rules which may impact prior authorization testing.</strong><br><strong>Please direct any questions regarding CPT coding to the payer being billed.</strong>
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Notes: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
Notes: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
Transport Container
EDTA (lavender-top) tube
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Gross hemolysis • Received frozen
Methodology
Sanger Sequencing • Polymerase Chain Reaction • Fragment Size Analysis
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
As needed
Report Available
14-21 days
Reference Range
See Laboratory Report
Clinical Significance
Detects sequence variants in the GJB2 gene and deletions in the GJB6 gene in patients with sensorineural non-syndromic hearing loss.
Performing Laboratory
| Athena Diagnostics, Inc. |
| 200 Forest Street, 2nd Floor |
| Marlborough, MA 01752-3023 |
Last Updated: November 6, 2024
