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Connexin Related Deafness Evaluation
Test Code90482
CPT Codes
81252, 81254
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 years): 2 mL (1 mL minimum)
Pediatric (0-3 years): 2 mL (1 mL minimum)
Minimum Volume
6 mL
Instructions
Note: Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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.
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
Gross hemolysis
Specimen Stability
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
Set up: As needed; Report available: 14-21 days
Report Available
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
