Our Product: AmplideX PCR/CE FMR1 Kit

Features & Benefits

AmplideX PCR/CE FMR1 Reagents* have 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 Analysis Module

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

*For Research Use Only. Not for use in diagnostic procedures.

Product Description

Analytical Characteristics of AmplideX PCR/CE FMR1 Reagents*:

• Detects all alleles including low abundance full mutations (Figure 1)
• Accurately sizes any repeat up to 200 CGG repeats (Figure 2)
• Resolves female zygosity (Figure 3)
• Detects presence of AGG interruptions (Figure 4)

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 premutation 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

Figure 5. Hands-on Time and Instrument time for the AmplideX PCR/CE FMR1 Reagents Kit

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Our Product: AmplideX PCR/CE FMR1 Kit

Features & Benefits

The AmplideX PCR/CE FMR1 Kit is an all-inclusive kitted assay created to reliably analyze CGG repeats and detect interrupting AGG sequences in the FMR1 gene. Using a PCR-only approach based on Triplet Repeat Primed PCR (TP-PCR) design, the AmplideX PCR/CE FMR1 kit reliably amplifies and detects all alleles, including full mutations, in a streamlined workflow on widely available laboratory equipment.

Reduced Complexity

• End-to-end solution includes all necessary reagents
• Proprietary PCR solution reliably amplifies GC-rich regions, as indicated by more than 30 peer reviewed publications
• Automated result calling using AmplideX PCR/CE FMR1 Reporter Software

Optimized Workflow

• Direct injection of PCR products into Capillary Electrophoresis platforms reduces PCR clean up
• Decreased need for Southern blot analysis (up to 50-fold)
• Reduced hands-on time

Quality Performance

• Detection of all allele expansions, including low abundance full mutation size mosaics with up to at least 1300 CGG repeats
• Greater accuracy with up to 875-fold more sensitivity than traditional Southern blot techniques1
• Resolution of female homozygous and heterozygous samples and indication of interrupting AGG sequences

Product Description

Analytical Characteristics of AmplideX PCR/CE FMR1 Kit:

• 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)

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

Figure 5. Hands-on Time and Instrument time for the AmplideX PCR/CE FMR1 Reagents Kit

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