- 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.
- 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
- Hang wringing
- Breathing issues
- Sleep disturbances
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.
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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