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. It is usually accompanied by vestibular involvement and retinitis pigmentosa which is characterized by progressive loss of vision. It is the leading genetic cause of combined hearing and vision loss. Based on the hearing and vestibular symptoms it has been classified into three types: type 1 is the most severe form; type 2 is the most frequent form and type 3 is the rarest and most heterogeneous form. It is transmitted in an autosomal recessive manner.
The Igenomix Usher Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of sensorineural hearing loss ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of hearing aids and cochlear implants, social services and speech therapy.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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