Hearing Impairment
Hereditary hearing impairments encompass a variety of genetically determined disorders that lead to hearing loss. They often result from mutations in genes that are crucial for the function of the inner ear. Among the most well-known are sensorineural hearing impairments, which are caused by defects in the hair cells of the inner ear and can be part of complex syndromes such as Usher syndrome.
Request Test
- Sample material: EDTA whole blood
- Testing method: Next-Generation Sequencing (NGS)
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC SERVICES
The following table presents our indication-specific range of examinations in this field:
| INDICATION | ANALYSIS |
| Non-syndromic hearing impairment | Gene panel |
| Syndromic hearing impairment | Gene panel |
| Usher syndrome | Gene panel |
The genes examined in the respective gene panels are always based on the current versions of the Genomics England PanelApp, the PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic clinical picture, it is possible to request exome sequencing based on phenotypic characteristics.