Connexin 26 (GJB2) Sequencing and Deletion/Duplication
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.
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA) or yellow (ACD solution)
Transport 3 mL whole blood. (Min: 3 mL)
New York State Clients: 7 mL (Min. 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Massively Parallel Sequencing
Refer to report.
Laboratory Developed Test (LDT)
Gene Tested: GJB2 (NM_004004)
|Component Test Code*||Component Chart Name||LOINC|
- Deafness autosomal dominant 3A (DFNA3A)
- Deafness autosomal recessive 1A (DFNB1A)
- GJB2-related nonsyndromic hearing loss and deafness