Asuragen: FragileX

Last updated: 28th September, 2018

The AmplideX® suite of products is designed to solve unmet testing needs in inherited genetic disorders. The technology overcame a 20-year challenge by reliably amplifying the FMR1 gene. This allowed researchers to gain a deeper understanding of fragile X syndrome, the most common known inherited cause of intellectual disability and autism.

AmplideX® FMR1 PCR: (CE IVD)
The AmplideX FMR1 PCR is a tool to amplify and detect the CGG repeat region in the 5′-untranslated region of the fragile X mental retardation-1 (FMR1) gene.

  • Reproducible detection of all allele expansions including low abundance full mutation size mosaics with up to at least 1300 CGG.
  • Definitive resolution of female homozygous and heterozygous samples and indication of interrupting AGG sequences.
  • Reduced need for Southern blot analysis by as much as 10 to 50 fold and up to 875 fold more sensitive than Southern blot.

AmplideX® FMR1 mPCR: (RUO)
This kit is a research tool that utilises an innovative PCR-only approach for the detection of methylation status of the FMR1 gene.

  • Determines methylation status and quantifies methylation of each allele
  • Improves turnaround time by 5-fold (compared to Southern Blot)
  • Simplified PCR-only workflow completely eliminates the need for Southern Blot.
  • Detects lower abundance methylation and size mosaic alleles
  • AmplideX® Controls

AmplideX controls are a propriety mixture of genomic DNA containing multiple alleles. These well characterised controls can be used as process controls covering multiple size ranges and different methylation states in the FMR1 gene.

  • 2 controls available
    • Process Control
    • Methylation & Sensitivity Control
  • Ready-to-use
  • Characterised as CGG repeats or % methylation
  • Single control covering multiple size ranges in FMR1 gene

 

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