Rett syndrome (RTT) is a complex neurodevelopmental disorder. At our company, we are dedicated to creating cutting-edge genetic testing reagents/kits and accompanying diagnostic equipment to address the challenges encountered in RTT diagnosis. Serving as your reliable partner in the realm of RTT diagnostic research, we deliver effective and all-encompassing solutions to fulfill all your scientific research requirements.
Introduction to Rett Syndrome
Rett syndrome (RTT) is a rare genetic disorder predominantly affecting females, characterized by impairments in language and coordination, repetitive movements, slower growth, and smaller head size. The onset typically occurs between 6 to 18 months of age. The primary cause of RTT is mutations in the MECP2 gene located on the X chromosome, which plays a critical role in brain development and function. The prevalence of RTT is estimated to be around 1 in 10,000 to 1 in 15,000 live female births.
MECP2 Mutations Leading to RTT
The MECP2 gene encodes a protein that regulates the expression of other genes in the brain. Mutations in MECP2 disrupt this regulatory function, leading to abnormalities in neuronal maturation, synaptic plasticity, and neurotransmitter signaling, which contribute to the characteristic symptoms of RTT.
Fig. 1 Potential mechanisms and clinical signs of autonomic dysfunction in Rett syndrome. (Cordani R, et al., 2023)
In Vitro Diagnosis for Rett Syndrome
Genetic testing is a fundamental component of the in vitro diagnosis (IVD) of Rett syndrome (RTT). Genetic testing helps confirm the diagnosis and differentiate RTT from other neurodevelopmental disorders with similar symptoms by identifying specific mutations in the MECP2 gene. Multiple molecular techniques are available for genetic testing of RTT.
Next-Generation Sequencing
As a high-throughput sequencing technology, next-generation sequencing allows rapid and comprehensive analysis of the entire MECP2 gene, facilitating the detection of various mutations.
MLPA Methods
Multiplex ligation-dependent probe amplification (MLPA) is utilized to detect larger deletions or duplications within the MECP2 gene that sequencing methods are unable to capture, serving as a complementary technique to sequencing.
MSP Technology
Methylation-specific PCR (MSP) is used to identify abnormal methylation patterns in the MECP2 gene associated with atypical forms of Rett syndrome, such as Rett syndrome with preserved speech.
Our Services
To fill the gap in the in vitro diagnosis (IVD) of Rett syndrome (RTT), our company is dedicated to developing a range of MECP2 gene testing kits to accurately identify this rare genetic disease. These kits, when used in conjunction with our IVD devices, maximize the detection sensitivity, specificity, and stability.
IVD Product Development Services
Optional IVD Products
- Gene Sequencing Kits
- MLPA Gene Detection Kits
- DNA Methylation Analysis Kits
- Primers and Probes
- DNA Extraction and PCR Reagents
- And More
Our services are not limited to this. To expedite prompt diagnosis and personalized therapeutics for Rett syndrome (RTT), we provide point-of-care testing and companion diagnostic development services. These services play a crucial role in enhancing the efficiency and accuracy of RTT diagnostics, enabling personalized care strategies for affected individuals.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Cordani R, Tobaldini E, Rodrigues G D, et al. Cardiac autonomic control in Rett syndrome: Insights from heart rate variability analysis[J]. Frontiers in Neuroscience, 2023, 17: 1048278.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
