Fragile X Syndrome
Fragile X Syndrome is the leading inherited cause of intellectual disability and autism. Individuals with Fragile X Syndrome usually have mutations involving an expansion of the CGG nucleotide repeat region in the 5’ untranslated region of the Fragile-X Mental Retardation-1 (FMR1) gene. Early detection of Fragile X is important as this allows for early intervention and management with medication, specialized education and behavioural therapy, which maximizes learning potential of each child.
Screening is important as it aids family planning by identifying asymptomatic premutation/full mutation carriers, allowing couples to make more informed reproductive decisions. However, screening programmes currently face a number of constraints, mainly complicated testing workflows and high rate of false negatives. Conventional screening workflows utilise a two-primer PCR design to amplify the CGG region, followed by capillary electrophoresis and Southern blot analysis to determine the expansion size and methylation status.
The Importance of Screening for Fragile X Syndrome
Changing the Landscape for Fragile X Testing
The FastFraX™ kits are a complete suite of robust molecular diagnostic kits which will provide a comprehensive way to meet your testing needs. Please click on the respective product profiles for more information about the various testing kits.
FMR1 Sizing Kit
Potential Use for FastFraX™
The CGG repeat mutation in the FMR1 gene is responsible for a range of disorders and may be present in the autism spectrum disorder population, young women with fertility problems, etc. FastFraX™ FMR1 analysis kits can be used in various combinations to meet these specific needs.
Users with smaller sample volume may use FastFraX™ FMR1 Sizing Kit or FastFraX™ FMR1 Methylation Status Kit directly, depending on their needs.