Ear, Nose, Throat Precision Panel
Diagnostic test based on NGS of multiple genes associated to a disease, condition, or phenotype.
Panels
Usher Syndrome Precision Panel – 22 genes
Usher Syndrome (USH) is a clinically and genetically heterogeneous disorder presenting with sensorineural hearing loss due to an impaired ability of the inner ear and auditory nerves to transmit sensory input to the brain.
Waardenburg Syndrome Precision Panel – 9 genes
Waardenburg Syndrome (WS) is a genetic disorder characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, blue eyes (heterochromia irides), and sensorineural hearing loss. It also presents with other clinical features involving musculoskeletal abnormalities, gastrointestinal malformations and neurological defects.
Branchiootorenal Syndrome Precision Panel – 4 genes
Branchiootorenal Syndrome (BOR) is a rare autosomal dominant disorder that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys.
Syndromic and Nonsyndromic Deafness Precision Panel – 249 genes
Hearing loss can be defined as conductive or sensorineural. Conductive hearing loss occurs due to dysfunction of the outer or middle ear, which prevents transmission of sound waves from reaching the inner ear.
