Children's Mercy Hospitals and Clinics
Name
Connexin 26

CMH Lab Section
Molecular Genetics

Clinical Description
Over half of all cases of early childhood hearing loss are due to genetic causes; mutations in the GJB2 gene, encoding the connexin 26 protein, represent the largest proportion of these. As such, all children born with hearing loss, of any severity, are candidates for connexin 26 gene testing. This is true even if there is no family history of hearing loss, as this is the most common presentation.

Specimen Requirements
1-3 mL in EDTA lavender

Availability
Routine

Turn Around Time
2 weeks

Methodology
The entire coding region, exon/intron boundaries, and 5'-UTR of the GJB2 gene is bidirectionally sequenced.

Ranges
See interpretative report

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