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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.
Table 1: Diagnostic Sensitivity of 100%; Diagnostic Specificity of 98.4% and Overall Accuracy of 99%
*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
Figure 2. Female Pre-mutation sample with accurate sizing of Normal (30 CGG) and Pre-mutation allele (56 CGG)
Figure 3: The difference in the “stutter” peak patterns of homozygous and heterozygous female provides a clear resolution of zygosity
Figure 4. Female Full Mutation sample with AGG interruptions as indicated by sudden decrease in peak heights of the “stutter” peak profile
AmplideX® PCR/CE FMR1
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