According to a study, genetic testing for a certain mutation in pediatric patients is valuable in determining a cause for unexplained hearing loss. The study can be found in the November 2012 issue of Otolaryngology-Head and Neck Surgery.
The study's authors state that testing for some of the most common mutations that cause sensorineural hearing loss in a targeted way, rather than through generalized screening of hearing loss patients, yields the best results.
University of Miami NIH-funded researchers led by Dr. Xue Zhong Liu, a physician-scientist, conducted a nine-year study on 221 adult and 163 pediatric patients with sensorineural hearing loss. Blood samples were screened for mutations in GJB2 and GJB6 and mitochondrial DNA mutations, audiometric tests were conducted, and patient and family histories were taken.
The authors conclude, "Our study supports the considerable value of genetic testing in establishing an etiology for childhood hearing loss. Given its high yield, DFNB1 mutation screening should be considered an early step in the diagnostic evaluation of pediatric hearing loss. However, its role in adults seems considerably more limited and is yet to be defined."