Fragile X syndrome (FXS) is a rare genetic disorder. With a team of researchers and scientists well versed in FXS, our company is dedicated to developing advanced IVD diagnostic products for FXS. We offer point-of-care testing and companion diagnostic development services to expedite the diagnosis process and personalized therapies for FXS.
Introduction to Fragile X Syndrome
Fragile X syndrome (FXS) stands as a prominent genetic disorder renowned for its impact on cognitive function and behavior. The prevalence of FXS varies, with estimates suggesting approximately 1 in 7,000 to 1 in 11,000 individuals assigned male at birth and female at birth respectively are affected. FXS is caused by mutations in the FMR1 gene.
FMR1 Gene
Mutations in the FMR1 gene result in an expansion of the CGG triplet repeat within the gene. This expansion results in inactivation of the FMR1 gene and subsequent reduction or absence of the fragile X mental retardation protein (FMRP).
FMRP Protein
FMRP plays a crucial role in the development of synapses, which are essential for nerve cell communication in the brain. The cognitive and behavioral symptoms observed in individuals with FXS stem from the lack of functional FMRP.
Fig. 1 Schematic diagram of the molecular mechanism of Fragile X syndrome. (Valor, et al., 2021)
Diagnostic Development for Fragile X Syndrome
The diagnostic landscape for Fragile X syndrome (FXS) has evolved significantly over the years, with advancements in molecular technologies paving the way for more accurate and reliable diagnostic tools. Below are several strategies for FXS diagnostic development.
A PCR-based method is used to analyze the number of CGG repeats within the FMR1 gene. If the number of CGG repeats exceeds a certain threshold, the presence of FXS can be confirmed.
Genetic Testing
Biomarkers such as neurotransmitters and neuroinflammatory markers have shown promise in differentiating individuals with FXS and could be used to develop non-invasive diagnostic tools.
Biomarker Identification
IVD Products for Fragile X Syndrome
In vitro diagnostics (IVD) for Fragile X syndrome (FXS) is essential for the accurate and timely identification of individuals affected by this genetic disorder. Several diagnostic kits for FXS are currently available on the market. These kits utilize various technologies and methodologies to analyze the presence of mutations in the FMR1 gene and provide insights into the number of CGG repeats, a hallmark of FXS.
| Product Name |
Uses |
Techniques |
| FMR1 gene testing kit |
The kit is used to detect the number of CGG repeats in the FMR1 gene. |
Duplex PCR |
| Fragile X FMR1 and FMR2 detection kit |
The kit is used for the detection of CGG repeats in the FMR1 gene and CCG repeats in FMR2 gene. |
Duplex PCR |
| Southern Blot analysis kit |
The kit is employed to detect CGG repeat expansions in the FMR1 gene by analyzing DNA fragments separated based on size. |
Southern Blot |
| Fluorescence in situ hybridization (FISH) detection kit |
FISH assays enable the visualization of specific DNA sequences within the FMR1 gene, allowing for the detection of CGG repeat expansions. |
FISH Assays |
Our Services
At our company, we specialize in the development of in vitro diagnostic (IVD) solutions tailored for Fragile X syndrome (FXS). Our unwavering commitment is directed towards the creation of cutting-edge FMR1 gene testing kits designed to pinpoint CGG repeats with exceptional accuracy. Through the innovation of complementary diagnostic devices, we aim to facilitate the early recognition and precise diagnosis of FXS.
Our IVD Product Development Services
To expedite prompt diagnosis and personalized therapies for Fragile X syndrome (FXS), we provide point-of-care testing and companion diagnostic development services. These services are pivotal in enhancing the efficiency and accuracy of FXS diagnostics, enabling personalized care strategies.
Questions & Answer
Q: What information do you need to provide for IVD product development of Fragile X syndrome?
A: We would need information regarding your sample type, target genes or biomarkers, testing techniques, quality control requirements, etc.
Q: What is the cycle and price of IVD product development services?
A: The timelines and fees for our services depend on the complexity of the project. A comprehensive quote tailored to your specific needs can be provided upon request.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Valor, Luis M., et al. "Molecular pathogenesis and peripheral monitoring of adult fragile X-associated syndromes." International Journal of Molecular Sciences 22.16 (2021): 8368.
- Gabis, Lidia V., et al. "Prolonged time lag to final diagnosis of fragile X syndrome." The Journal of pediatrics 193 (2018): 217-221.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
