Although traditional genetic testing has been useful in identifying hearing loss in which one or a limited number of genes are involved—such as identifying a mutation in the connexin 26 gene, one of the most common forms of genetic hearing loss in children—the heterogeneity of hearing loss requires looking at the broader array of genes and genetic variants that are known to be involved in the condition.
These more comprehensive genetic tests are now available in the United States and worldwide and can be found online at GeneTests, a site that offers genetic testing for a broad range of diseases and disorders, including hearing loss (genetests.org). In the U.S., four research labs offer comprehensive genetic tests for hearing loss (See “Table. 1: U.S. Sites for Comprehensive Genetic Testing for Hearing Loss,”).
The comprehensive genetic testing offered at one of these labs has dramatically improved the diagnostic rate of hearing loss, said Dr. Smith Recently, he and his colleagues published a study looking at the most current evidence on the use of comprehensive genetic testing for hearing loss in the U.S. All four sites in the U.S. use a technology called massively parallel sequencing (MPS), in which hundreds or thousands of gene