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
    • Part of brands: |
    InternationalInternational
    • Country/Region
      • Part of brands: |
      • 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
        • Igenomix Worldwide
      • Academy
      • Blog
      Genomics Precision Diagnostic > Neurology Precision Panel > Rett Syndrome Precision Panel

      Rett Syndrome Precision Panel

      Rett Syndrome (RTT) is a neurodevelopmental disorder that occurs predominantly in females and has a progressive degenerative course resulting in cognitive and physical disabilities. Presentation is clinically heterogeneous ranging from difficulty to ambulate all the way to atrophy, dystonia, scoliosis and intellectual impairment. 
      Overview
      Indication
      Clinical Utility
      Genes & Diseases
      Methodology
      References

      Overview

      • Rett Syndrome (RTT) is a neurodevelopmental disorder that occurs predominantly in females and has a progressive degenerative course resulting in cognitive and physical disabilities. Presentation is clinically heterogeneous ranging from difficulty to ambulate all the way to atrophy, dystonia, scoliosis and intellectual impairment. The hallmark of Rett Syndrome is near constant repetitive hand movements. It is one of the most prevalent causes of intellectual disability in females. Developmental potential for patients with Rett Syndrome is variable and difficult to predict, some individuals achieve functional skills.  

      • The Igenomix Syndrome Precision Panel  can serve as an accurate and directed diagnostic tool as well as differential diagnosis of intellectual disability 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 Rett Syndrome Precision Panel is indicated in patients with a clinical suspicion or diagnosis of with or without the following manifestations: 
        • Gross motor development delay 
        • Loss of eye contact 
        • Weight and height growth deceleration 
        • Head growth deceleration 
        • Hypotonia 
        • Hang wringing 
        • Breathing issues 
        • Sleep disturbances 
        • Seizures 

      Clinical Utility

      The clinical utility of this panel is: 

        • The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient. Improve diagnostic criteria, natural history studies and novel therapeutic options. 
        • Early initiation of treatment with a multidisciplinary team in the form of medical care for seizure prevention, dystonia as well as physical 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

      Kubota, T., Miyake, K., & Hirasawa, T. (2013). Role of epigenetics in Rett syndrome. Epigenomics, 5(5), 583-592. doi: 10.2217/epi.13.54 

      Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2.  

      Huppke, P. (2000). Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Human Molecular Genetics, 9(9), 1369-1375. doi: 10.1093/hmg/9.9.1369 

      Gold, W. A., Krishnarajy, R., Ellaway, C., & Christodoulou, J. (2018). Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities. ACS chemical neuroscience, 9(2), 167–176. https://doi.org/10.1021/acschemneuro.7b00346 

      Kyle, S. M., Vashi, N., & Justice, M. J. (2018). Rett syndrome: a neurological disorder with metabolic components. Open biology, 8(2), 170216. https://doi.org/10.1098/rsob.170216 

      Vidal, S., Xiol, C., Pascual-Alonso, A., O’Callaghan, M., Pineda, M., & Armstrong, J. (2019). Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges. International journal of molecular sciences, 20(16), 3925. https://doi.org/10.3390/ijms20163925 

      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
        • Igenomix Worldwide
      • 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