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Connexin 30 (GJB6) Sequencing

Important Note

As of 12/31/24 this test will no longer be performed by the Seattle Children’s Molecular Genetics Laboratory due to low utility for hearing loss molecular testing. Questions may be directed to the Laboratory Genetic Counselors (LabGC@seattlechildrens.org).

Synonyms

GJB6 Sequencing

DFNA3

Description

The Seattle Children's Hospital Molecular Laboratory no longer offers this test.

Sample Requirements

See reference lab instructions

Processing Instructions

see reference lab instruction

Performing Laboratory

varies

Department

Lab Client Services: labclientservices@seattlechildrens.org

 

Lab Genetic Counselor: LabGC@seattlechildrens.org

Reference Range

Interpretive report will be provided

Special Instructions

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

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.