Diagnostic Tests Offered
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The Molecular Genetics Laboratory & the Ear and Hearing Center at Cincinnati Children's 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 Tier II tests, we have simplified genetic testing for patients with sensorineural hearing loss (SNHL). Testing begins with the cost-effective Tier I tests. Testing then proceeds to Tier II, if a genetic etiology is not determined from Tier I. This two-tiered approach provides the most thorough diagnostic genetic evaluation available today. However, if you prefer, each of our tests may also be ordered independently. (Please refer to the test requisition).
Tier I and Tier II testing is indicated for any patient with SNHL of unknown etiology who has had no previous molecular genetic studies. These tests identify approximately 60% of the genetic causes of hearing loss in children with bilateral SNHL and includes analysis for mutations in GJB2, GJB6, 12S rRNA and tRNAser(UCN), OTOF, MYO7A and CDH23. It is recommended that patients with temporal bone abnormalities undergo genetic testing for mutations in the Pendrin gene (SLC26A4) prior to Tier I and Tier II testing.
Each test result includes a detailed interpretation of the genetic findings, the clinical significance of the result and specific recommendations for clinical management and additional testing, if warranted.
