Published on in CHOP News
The Division of Genomic Diagnostics at Children’s Hospital of Philadelphia has launched AUDIOME, a comprehensive genetic test for the diagnosis of nonsyndromic hearing loss in children (NSHL). The first tier of tests includes PCR and Sanger sequencing analysis of GJB2, MT-TS1 and MT-RNR1, and SNP-array based deletion analysis of DFNB1 locus and STRC genes. When tier one results are negative or inconclusive, samples are advanced to Tier 2 tests that offer a virtual gene panel for hearing loss based on an exome-sequencing and Illumina SNP- array platforms. Tier 2 tests extend the examination of sequence variants and copy number changes in a total of 119 loci implicated in NSHL and NSHL-mimic syndromic hearing loss.
The two tier model of AUDIOME allows testing to be reflexed to a full exome when analysis of the genes known to be associated with NSHL are negative. This new approach to hearing loss testing also identifies syndromic causes in children who present in the neonatal period when syndromic features are not yet evident and may evolve over time.
To order the AUDIOME panel, please download and return the requisition form.
For more information contact Jason Roberts, Outreach Manager, Division of Pathology and Laboratory Medicine, at 215-590-0637 or firstname.lastname@example.org.
For media inquiries, please contact John Ascenzi, Children’s Hospital of Philadelphia, at 267-426-6055 or email@example.com.