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Connexin 26 (GJB2) Sequencing and Deletion/Duplication
3004720
Copy Utility
Ordering Recommendation
Diagnostic testing or carrier screening for GJB2-related nonsyndromic hearing loss (NSHL). May be used as first-tier genetic test for individuals with severe-to-profound congenital NSHL.
Mnemonic
CX26 NGS
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Specimen Preparation
Transport 3 mL whole blood. (Min: 3 mL)
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Remarks
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Gene Tested: GJB2 (NM_004004)
Hotline History
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
N/A
CPT Codes
81252; 81479
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3004721 | CX26 Specimen | |
| 3004722 | CX26 Interp |
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
- Deafness autosomal dominant 3A (DFNA3A)
- Deafness autosomal recessive 1A (DFNB1A)
- GJB2-related nonsyndromic hearing loss and deafness
Connexin 26 (GJB2) Sequencing and Deletion/Duplication
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