The Molecular Genetics Laboratory and the Ear and Hearing Center offer a variety of genetic tests for patients with sensorineural hearing loss. Tests currently offered include:
Expanded Genetic Testing
With our expanded Tier I and OtoSeq tests, we have simplified genetic testing for patients with sensorineural hearing loss (SNHL).
Testing begins with the cost-effective Tier I test, which includes the most common genes associated with sensorineural hearing loss.
If a genetic etiology is not determined from Tier I, testing may then proceed to the OtoSeq panel by next-generation sequencing.
This two-tiered approach provides the most thorough diagnostic genetic evaluation available today. If a specific syndrome is suspected, next-generation sequencing panels for Usher syndrome, Pendred syndrome and Branchio-oto-renal spectrum disorder (BOR) are also available.
Tier I and OtoSeq testing are indicated for any patient with sensorineural hearing loss of unknown etiology. These tests identify approximately 80 percent of the genetic causes of hearing loss in children with bilateral SNHL. Tier I testing includes analysis for mutations in GJB2, GJB6, 12S rRNA and tRNAser (UCN). OtoSeq testing includes next-generation sequencing for 23 genes associated with SNHL.
It is recommended that patients with temporal bone anomalies undergo genetic testing for mutations in the Pendrin gene (SLC26A4) or the Pendred syndrome panel (SLC26A4, FOXI1 and KCNJ1) prior to Tier I and OtoSeq testing.
If Usher syndrome is suspected, the Usher syndrome panel, which contains nine genes associated with Usher syndrome, may be ordered.
If Branchio-oto-renal spectrum disorder is suspected, sequencing of the EYA1 gene or the BOR panel (EYA1, SIX1 and SIX5) may be ordered.
Each test result includes a detailed interpretation of the genetic findings, the clinical significance of the test result and specific recommendations for clinical management and additional testing, if warranted.