The Hearing Loss and Deafness Panel test is based on Germline DNA mutation analysis. As such, it analyses all Common and Rare Variants associated with Hearing Loss and Deafness instead of a limited set of genes.
The term hearing loss refers to an impairment of hearing function, which can be mild, medium or severe, as well as unilateral or bilateral. Individuals with hearing loss may retain the ability to hear some sounds around them, but when this impairment causes an inability to understand language (even in the presence of amplification), hearing loss results in deafness.
The causes of hearing loss and deafness are multiple and complex: they can in fact derive from defects in the processes of sound conduction and processing, from congenital malformations or be the result of infectious processes or exposure to ototoxic substances. In addition, hearing loss can be a normal consequence of aging, as is the case with other sensory functions.
Another important distinction, of particular medical interest, consists of the syndromic and non-syndromic forms of hearing loss and deafness: in the first case, the impairment of the hearing function falls within the symptomatology of systemic conditions affecting other parts of the body as well (for example, Waardenburg syndrome, Branchiootorenal spectrum disorders, Usher syndrome, etc...) and is determined by malformations of the external ear. The non-syndromic forms, on the other hand, do not appear associated with visible anomalies of the external ear or with other pathological manifestations, but are determined by mutations affecting specific genes, which can have an autosomal dominant, recessive, X-linked type of inheritance or mitochondrial.
Many of these forms are sensorineural, as they affect the structures of the inner ear responsible for transmitting sounds to the brain; in other cases, they can be conductive, as they come from the middle ear.
This panel analyzes the main genes related to hearing loss and deafness, both in the syndromic and isolated forms.
Along with environmental factors, Genetics plays a key role in the regulation of Hearing Loss and Deafness. - more than 260 genes analyzed - 100% of genomic regions covered - Intragenic and intergenic regions analyzed - All variants reported.