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

3 weeks

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

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