AmplideX® PCR/CE FMR1 Reagents

AmplideX FMR1AmplideX PCR/CE FMR1 Reagents* are market-leading research tools for the detection of CGG repeats in the fragile X mental retardation (FMR1) gene. These reagents provide a PCR-only approach based on Triplet Repeat Primed PCR (TP-PCR) design to reliably amplify and detect all alleles including Full Mutations.

 

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 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

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

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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

AmplideX Methylation and Sensitivity Control

Figure 2. Female premutation 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

Ordering

Product Name Number of Reactions Catalog Number
AmplideX PCR/CE FMR1 Control 24 UL 49513
AmplideX mPCR FMR1 Control 24 UL 49514
AmplideX PCR/CE FMR1 Reagents 100 49402
AmplideX mPCR FMR1 Kit 24 49442
AmplideX PCR/CE FMR1 Reporter N/A 49576

T 1-877-777-1874; 512-681-5200
F 512-681-5202
E orders@asuragen.com

References

  1. Referenced in over 30 peer reviewed publications and used in over 200 laboratories, the AmplideX® PCR/CE FMR1 Reagents* are globally recognized as best-in-class for assessment of CGG repeats in the FMR1 gene.

AmplideX® PCR/CE FMR1 Kit

AmplideX FMR1AmplideX PCR/CE FMR1 Kit is an in vitro diagnostic (IVD) device for use in clinical laboratories for detection of the CGG repeats in the fragile X mental retardation (FMR1) gene. The device is intended to aid in the diagnosis of fragile X syndrome and fragile X associated disorders, e.g. tremor and ataxia syndrome (FX-TAS) and primary ovarian insufficiency (FXPOI), through determination of CGG repeat length up to 200 CGG and detection of alleles greater than 200 CGG. The kit provides a PCR-only approach based on Triplet Repeat Primed PCR (TP-PCR) design to reliably amplify and detect all alleles including Full Mutations.

Features & Benefits

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

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)

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

Ordering

Product Name Number of Reactions Catalog Number
AmplideX PCR/CE FMR1 Control* 24 UL 49513
AmplideX mPCR FMR1 Control* 24 UL 49514
AmplideX PCR/CE FMR1 Reagents* 100 49402
AmplideX PCR/CE FMR1 Kit 100 76008
AmplideX mPCR FMR1 Kit* 24 49442
AmplideX PCR/CE FMR1 Reporter* N/A 49576

T 1-877-777-1874; 512-681-5200
F 1-512-681-5202
E orders@asuragen.com

References

  1. Referenced in over 30 peer reviewed publications and used in over 200 laboratories, the AmplideX® PCR/CE FMR1 Reagents* are globally recognized as best-in-class for assessment of CGG repeats in the FMR1 gene.
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