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Test Code CX 30 SEQ Connexin 30 Sequencing

Clinical System Name

Connexin 30 Sequencing

Synonyms

GJB6 Sequencing

DFNA3

Description

Sequencing of the Gap Junction Beta-6 Protein GJB6 gene (connexin 30) associated with nonsyndromic hearing loss and deafness (DFNA3). 

Sample Requirements

Specimen: Whole blood, cord blood

Container(s): Lavender/EDTA, Yellow/ACD A or B

Preferred Vol: 3 mL

Minimum Vol: 1 mL

 

Note: Heparin samples (Green tops) are unacceptable.

 

Specimen: Extracted DNA

Minimum: 10µg

Note: DNA concentration minimum 50 µg/mL; 260/280 ratio 1.70-2.00

  

Specimen: Cultured cells

Acceptable:  Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

Processing Instructions

Reject due to: Heparin

Spin: No

Aliquot: No

Temp: Refrigerate

Storage location: Molecular Genetics box in CPA refrigerator #2

 

Off-site collection: Refrigerate blood samples until ready to ship.  Transport all sample types at room temperature via overnight shipping.

Stability

Specimen Type Temperature Time
Cultured cells Room temp 3 days
Whole blood, extracted DNA Room temp 3-5 days
Whole blood, extracted DNA Refrigerated 7 days
Extracted DNA Frozen ok

 

Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.

Availability

STAT Performed TAT
Contact lab Monday - Friday 2-3 weeks

 

Performing Laboratory

Seattle Children's Laboratory

Department

Department:  Molecular Genetics Laboratory

Phone: 206-987-3872

 

Lab Client Services: 206-987-2617

 

Lab Genetic Counselor: LabGC@seattlechildrens.org

Reference Range

Interpretive report will be provided

Methodology

Method: Bi-directional sequencing of all exons and exon-intron boundaries

 

Limitations: Variants in the promoter region, large deletions, large duplications, or rare recombinant variants may not be detected by this method.

CPT Codes

81479      (updated 8/21/17 by jnaray) 

Special Instructions

Links to: Nonsyndromic Hearing Loss and Deafness, DFNA3 - GeneReviews; Nonsyndromic Hearing Loss and Deafness, DFNB1 - GeneReviews

Requisition

Molecular Genetics

Clinical Utility

Sequencing of the Gap Junction Beta-6 Protein GJB6 gene (connexin 30) associated with nonsyndromic hearing loss and deafness (DFNA3). DFNA3 is characterized by childhood-onset, progressive, moderate-to-severe high-frequency sensorineural hearing impairment. This is an autosomal dominant form of nonsyndromic hearing loss.