AmplideX® PCR/CE FMR1 Reagents

 

x chromosome fragile x 3d image

AmplideX PCR/CE FMR1 Reagents* are market-leading research tools for the detection of CGG repeats in the Fragile X Messenger Ribonucleoprotein 1 (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.

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Our Product: AmplideX PCR/CE FMR1 Reagents

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)

 

AmplideX Methylation and Sensitivity Control

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

 

AmplideX Female premutation sample

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

 

AmplideX resolves female zygosity

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

 

AmplideX Female Full Mutation sample

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

 

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

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

 

 

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Ordering Information

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

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

x chromosome fragile x 3d image

The AmplideX PCR/CE FMR1 Kit is an in vitro diagnostic (IVD) device with Class C Certification under the new European Union In Vitro Diagnostic Regulation (IVDR) for use in clinical laboratories for detection of the CGG repeats in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. This kit 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.

Order AmplideX PCR/CE FMR1 Kit

Download the product brochure

Our Product: AmplideX PCR/CE FMR1 Reagents

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)

 

AmplideX Methylation and Sensitivity Control

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

 

AmplideX Female premutation sample

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

AmplideX resolves female zygosity

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

 

AmplideX Female Full Mutation sample

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

 

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

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

Ordering Information

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

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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