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Laboratory Test Directory

Connexin 26 Mutation Analysis (GJB2 Sequencing)

Components

Name Method Department Units
Connexin 26 Polymerase chain reaction (PCR)
Sanger sequencing
Analysis of the entire coding region: Sequence analysis
DNA extraction
Molecular Genetics

Specimen Requirements

Reasons for Rejection

  • Centrifuged specimen
  • Clotted specimen
  • Frozen specimen
  • Wrong collection tube
  • Delayed or improper handling

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended.

This test sequences the entire protein-coding region of the GJB2 gene (commonly known as Connexin 26 gene). Mutations in this gene can cause autosomal receissve deafness 1A (which accounts for 50% of autosomal recessive hearing loss) and autosomal dominant deafness 3A. It is estimated that nearly 40% of individuals with non-syndromic congenital hearing loss have mutations in the GJB2 gene.

When zero or one mutation is found in the GJB2 gene, reflex testing for GJB6 (Connexin 30) deletion analysis is automatically performed (test code: CONN30). Digenic inheritance of one mutation in GJB2 in trans with a deletion in GJB6 and/or a deletion of both copies of the GJB6 gene can also cause non-syndromic hearing loss.

Forms

Lab Form

CPT Code

  • 81252