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Molecular diagnostic testing of individuals with congenital sensorineural hearing loss typically begins with DNA sequencing of the  GJB2  gene. If the cause of the hearing loss is not identified in  GJB2 , additional testing can be ordered. However, the step-wise analysis of several genes often results in a protracted diagnostic process. The more comprehensive Hereditary Hearing Loss Arrayed Primer Extension microarray enables analysis of 198 mutations across eight genes ( GJB2 ,  GJB6 ,  GJB3 ,  GJA1 ,  SLC26A4 ,  SLC26A5 ,  MTRNR1  and  MTTS1 ) in a single test. To evaluate the added diagnostic value of this microarray for our ethnically diverse patient population, we tested 144 individuals with congenital sensorineural hearing loss who were negative for biallelic  GJB2  or  GJB6  mutations. The array successfully detected all  GJB2  changes previously identified in the study group, confirming excellent assay performance. Additional mutations were identified in the  SLC26A4 ,  SLC26A5  and  MTRNR1  genes of 12/144 individuals (8.3%), four of whom (2.8%) had genotypes consistent with pathogenicity. These results suggest that the current format of this microarray falls short of adding diagnostic value beyond the customary testing of  GJB2 , perhaps reflecting the array's limitations on the number of mutations included for each gene, but more likely resulting from unknown genetic contributors to this phenotype. We conclude that mutations in other hearing loss associated genes should be incorporated in the array as knowledge of the etiology of hearing loss evolves. Such future modification of the flexible configuration of the Hereditary Hearing Loss Arrayed Primer Extension microarray would improve its impact as a diagnostic tool.

Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice