Fragile X Syndrome Analytics

ticker ss fragilex freeFragile 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.

Changing the Landscape for Fragile X Analytik

TNR-Diagnostics from Singapore is the producer of these assays. TNR is specialized in the development of triple primed PCR-assays for trinucleotide repeat disorders (Fragile X, Myotonic Dystrophy 1, Chorea Huntington). 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.

FastFraX FMR1 Identification Kit

 

 FastFraX FMR1 Sizing Kit

 

FastFraX FMR1 Methylation Status Kit

  

FMR 1 Identification Kit

(CE, 50 and 100 rxn)

FMR1 Sizing Kit

(CE, 50 rxn)

FMR1 Methylation Status Kit

(RUO, 25 and 50 rxn)

 

Brochure for download here!

Scientific publication for identification-kit here!

Technical Specifications
   FastFraxTM FMR1
Identification Kit
FastFraxTM FMR1
Sizing Kit 
FastFraxTM FMR1
Methylation Status Kit
Methods
  • PCR
  • Melting Curve Analyis
  • PCR
  • CE
  • Sodium Bisulfite treatment
  • PCR
  • CE
Equipment
  • Roche LightCycler 480, or
  • ABI 7500 Fast, or
  • Qiagen RGQ
  • Thermal cycler
  • ABI 3730/3130 running POP-7
  • Thermal cycler
  • ABI 3730/3130 running POP-7
Hands-on time
  • 1hr
  • 1hr
  • 1hr
Information
  • Presence of expansion
  • Repeat size
  • AGG interruptions
  • Resolves female zygosity
  • Methylation status
  • Repeat size
  • AGG interuptions
  • Detect skewed XCI