Skip to content
  • Argentina
  • Brazil
  • Canada
  • Chile
  • Colombia
  • Europe
  • France
  • Germany
  • India
  • Italy
  • Japan
  • Korea
  • Mexico
  • Perú
  • Russia
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
  • Vietnam
  • Country/Region
    • Clinic Portal
      • +0034963905310
    • Request Information
    • +34 96 390 53 10
    InternationalInternational
    • Country/Region
    • We guide you
      • Fertility
        • What to do if…
      • Prevent Inherited Diseases
        • Carrier Genetic Test
      • Worry-free Pregnancy
        • NACE
        • Prenatal Diagnostics
        • Newborn Health
    • Reproductive Health
      • Specialists
        • ALICE
        • EMMA
        • ERA
        • EndomeTRIO
        • EMBRACE
        • CGT
        • NACE
        • Zenit
        • PGT-A
        • PGT-M
        • POC
        • SAT
        • Newborn Screening
      • Patients
        • ALICE
        • EMMA
        • ERA
        • EndomeTRIO
        • EMBRACE
        • CGT
        • NACE
        • Zenit
        • PGT-A
        • PGT-M
        • SAT
        • POC
    • Diagnostics
    • About us
      • Igenomix Research
      • About Igenomix
    • Academy
    • Blog
        Genomics Precision Diagnostic > Ear, Nose, Throat Precision Panel > Usher Syndrome Precision Panel

        Usher Syndrome Precision Panel

        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. 
        Overview
        Indication
        Clinical Utility
        Genes & Diseases
        Methodology
        References

        Overview

        • 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.  

        Indication

        • The Igenomix Usher Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of Usher Syndrome presenting with: 
          • Deafness 
          • Balance problems 
          • Night blindness 
          • Family history of deafness, balance problems and night blindness

        Clinical Utility

        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.

        Genes & Diseases

        Methodology

        References

        See scientific referrals

        Mathur, P., & Yang, J. (2015). Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochimica et biophysica acta, 1852(3), 406–420. https://doi.org/10.1016/j.bbadis.2014.11.020 

        Jouret, G., Poirsier, C., Spodenkiewicz, M., Jaquin, C., Gouy, E., Arndt, C., Labrousse, M., Gaillard, D., Doco-Fenzy, M., & Lebre, A. S. (2019). Genetics of Usher Syndrome: New Insights From a Meta-analysis. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 40(1), 121–129. https://doi.org/10.1097/MAO.0000000000002054 

        Toms, M., Pagarkar, W., & Moosajee, M. (2020). Usher syndrome: clinical features, molecular genetics and advancing therapeutics. Therapeutic advances in ophthalmology, 12, 2515841420952194. https://doi.org/10.1177/2515841420952194 

        Géléoc, G., & El-Amraoui, A. (2020). Disease mechanisms and gene therapy for Usher syndrome. Hearing research, 394, 107932. https://doi.org/10.1016/j.heares.2020.107932 

        Wolfrum, U., & Nagel-Wolfrum, K. (2018). Das Usher-Syndrom, eine Ziliopathie des Menschen [The Usher Syndrome, a Human Ciliopathy]. Klinische Monatsblatter fur Augenheilkunde, 235(3), 273–280. https://doi.org/10.1055/a-0573-9431 

        descargar

        Detail description

        Download

        Request Information


        WE GUIDE YOU

        Fertility
        Inherited diseases prevention
        Healthy pregnancy

        To see the accreditation certificate, associated technical annex and list of accredited tests, click on this link.

        OUR SERVICES

        Genetic solutions
        For patients
        How to send a sample?
        User manual

        ABOUT US

        About Igenomix
        Contact
        Quality
        Complaints
        Work with us

        FOLLOW IGENOMIX

          + 96 390 53 10
          Write us
        • Argentina
        • Brazil
        • Canada
        • Chile
        • Colombia
        • Europe
        • France
        • Germany
        • India
        • Italy
        • Japan
        • Korea
        • Mexico
        • Perú
        • Russia
        • Spain
        • Taiwan
        • The Middle East
        • Turkey
        • United Kingdom
        • United States
        • Vietnam
        Country/Region

        [2021] © Igenomix Privacy policy Quality policy Legal note Cookies policyNews and Press

        Request Information


        • We guide you
          • Fertility
            • What to do if…
          • Prevent Inherited Diseases
            • Carrier Genetic Test
          • Worry-free Pregnancy
            • NACE
            • Prenatal Diagnostics
            • Newborn Health
        • Reproductive Health
          • Specialists
            • ALICE
            • EMMA
            • ERA
            • EndomeTRIO
            • EMBRACE
            • CGT
            • NACE
            • Zenit
            • PGT-A
            • PGT-M
            • POC
            • SAT
            • Newborn Screening
          • Patients
            • ALICE
            • EMMA
            • ERA
            • EndomeTRIO
            • EMBRACE
            • CGT
            • NACE
            • Zenit
            • PGT-A
            • PGT-M
            • SAT
            • POC
        • Diagnostics
        • About us
          • Igenomix Research
          • About Igenomix
        • Academy
        • Blog
        • Country/Region
        • +34 96 390 53 10
        • Clinic Portal
        • Request Information

        We are using cookies to give you the best experience on our website.

        You can find out more about which cookies we are using or switch them off in settings.

        International
        Powered by  GDPR Cookie Compliance
        Privacy Overview

        This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.

        Strictly Necessary Cookies

        Strictly Necessary Cookie should be enabled at all times so that we can save your preferences for cookie settings.

        If you disable this cookie, we will not be able to save your preferences. This means that every time you visit this website you will need to enable or disable cookies again.

        3rd Party Cookies

        This website uses Google Analytics to collect anonymous information such as the number of visitors to the site, and the most popular pages.

        Keeping this cookie enabled helps us to improve our website.

        Please enable Strictly Necessary Cookies first so that we can save your preferences!

        Cookie Policy

        More information about our Cookie Policy