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AmplideX® PCR/CE FMR1

AmplideX PCR/CE FMR1 Kit has created an easy-to-use, accessible, high performance method for laboratories to reliably analyze CGG repeats and detect interrupting AGG sequences in the FMR1 gene. Reduced Complexity | Ease-of-analysis of the FMR1 gene has been simplified through: Implementation of proprietary PCR solution for amplifying GC-rich regions Automation of result calling using AmplideX PCR/CE […]

AmplideX PCR/CE FMR1 Kit has created an easy-to-use, accessible, high performance method for laboratories to reliably analyze CGG repeats and detect interrupting AGG sequences in the FMR1 gene.

Reduced Complexity | Ease-of-analysis of the FMR1 gene has been simplified through:

  • Implementation of proprietary PCR solution for amplifying GC-rich regions
  • Automation of result calling using AmplideX PCR/CE FMR1 Reporter

Optimized Workflow | Valuable operator hands-on time has been significantly reduced through:

  • Direct injection of PCR products (no PCR clean up) in to Capillary Electrophoresis platforms
  • Decreased need for Southern blot analysis (up to 50 fold)
  • End-to-end solution for FMR1 analysis including all necessary reagents and software

Quality Performance | Performing FMR1 Analysis with Greater Sensitivity and Accuracy:

  • Detection of all allele expansions, including low abundance full mutation size mosaics with up to at least 1300 CGG repeats
  • Up to 875 fold more sensitive than Southern blot1
  • Resolution of female homozygous and heterozygous samples and indication of interrupting AGG sequences
  • Proven performance as indicated by more than 30 peer reviewed publications

Analytical Characteristics of AmplideX PCR/CE FMR1 Kit Include:

  • Proven clinical accuracy compared to Southern Blot (Table 1)
  • Detects all alleles including low abundance full mutations (Figure 1)
  • Accurately sizes all alleles up to 200 CGG repeats (Figure 2)
  • Resolves female zygosity (Figure 3)
  • Detects presence of AGG interruptions (Figure 4)

Table 1: Diagnostic Sensitivity of 100%; Diagnostic Specificity of 98.4% and Overall Accuracy of 99%

AmplideX has proven clinical accuracy compared to Southern Blot

*These 2 samples presented premutation alleles by both methods and low intensity full mutation alleles detected only by the AmplideX PCR/CE FMR1 Kit

Figure 1: Amplification of Asuragen’s Methylation and Sensitivity Control which has a 5% full mutation in a background of 95% Normal

AmplideX Methylation and Sensitivity Control

Figure 2. Female Pre-mutation sample with accurate sizing of Normal (30 CGG) and Pre-mutation allele (56 CGG)

AmplideX Female premutation sample

Figure 3: The difference in the “stutter” peak patterns of homozygous and heterozygous female provides a clear resolution of zygosity

AmplideX resolves female zygosity

Figure 4. Female Full Mutation sample with AGG interruptions as indicated by sudden decrease in peak heights of the “stutter” peak profile

AmplideX Female Full Mutation sample

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