Sign in →

Connexin 26/30 DNA Analysis

Important Note

As of 12/31/24 this test will no longer be performed by the Seattle Children’s Molecular Genetics Laboratory. Seattle Children’s Hospital providers can consider alternate options at the Molecular Otolaryngology and Renal Research Laboratories at the University of Iowa.  External providers should contact the MORL or their preferred reference laboratory to coordinate test orders, specimen collection, and billing directly.  

Synonyms

GJB2/GJB6

DFNB1

Description

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

Sample Requirements

See reference lab instructions.

Processing Instructions

See reference lab instructions.

Stability

See reference lab instructions.

Performing Laboratory

Varies

Department

Lab Client Services: labclientservices@seattlechildrens.org

 

Lab Genetic Counselor: LabGC@seattlechildrens.org

Special Instructions

Links to:  GeneReviews: Nonsyndromic Hearing Loss and Deafness, DFNB1

Clinical Utility

DFNB1 nonsyndromic hearing loss and deafness is characterized by congenital non-progressive, mild-to-profound sensorineural hearing impairment.  DFNB1 is inherited in an autosomal recessive manner.

 

Sequencing analysis of the entire coding region of the GJB2 gene detects both variants in 98% of persons with DFNB1 nonsyndromic hearing loss and deafness. Approximately 2% of individuals with DFNB1 have one identifiable GJB2 variant and one of two large deletions that include a portion of GJB6.  It is extremely rare for individuals with DFNB1 to have homozygous large deletions that include a portion of the GJB6 gene.