The Diagnostic Panel for Hearing Loss has been comprehensively revised and expanded by five gene sets to clarify syndromal hearing disorders. In addition, you can now have the entire mitochondrial DNA examined to clarify maternally inherited hearing loss and possible aminoglycoside ototoxicity.
Congenital hearing loss is one of the most common impairments in infants and children. Untreated or unnoticed hearing loss can cause severe speech impairment, developmental delays, or impaired social behavior. Therefore, the earliest possible diagnosis is crucial for successful therapy. Based on the latest scientific data, the included genes have been reviewed and extended by five new gene sets (EAR05-EAR09) for syndromic hearing loss to ensure a reliable genetic diagnosis. The current list facilitates the selection of the appropriate gene set and, thus, helps to clarify a possible genetic cause of hearing loss. The complete syndromal hearing loss gene set (EAR03) is still available for request and also includes all genes covered in the EAR05-EAR09 gene sets.
The Diagnostic Panel for Hearing Loss now includes the following gene sets in addition to the gene set for non-syndromic hearing loss (EAR01, 95 genes) and syndromic hearing loss (EAR03, 79 genes):
- Usher syndrome (EAR05, 13 genes)
- Waardenburg syndrome and Piebaldism (EAR06, 7 genes)
- Perrault syndrome (EAR07, 5 genes)
- Branchio-oto-renal/ -oculo-facial syndrome (EAR08, 3 genes)
- Jervell and Lange-Nielsen syndrome (EAR09, 2 genes)
In addition, there is also the option to analyze the entire mitochondrial DNA in parallel. It allows testing for maternally inherited hearing loss as well as testing for aminoglycoside ototoxicity.
Analysis based on in-house exome enrichment
The Diagnostic Panel for Hearing Loss is based on exome sequencing using CeGaT ExomeXtra®. CeGaT ExomeXtra® covers all protein-coding regions and known pathogenic intronic and intergenic variants. It thus provides an excellent basis for genetic diagnostics.
You can find more information about our Diagnostic Panel for Hearing Loss here.
We will be happy to assist you in selecting the most appropriate diagnostic strategy for your patients. Call us at +49 (0) 7071 565 44 55 or send us an e-mail at diagnostic-support@cegat.com.