SMN Made Simple

Ten years ago, AmplideX® PCR/CE technology revolutionized how CGG repeat expansions in the FMR1 gene could be detected and analyzed, simplifying the testing process and delivering meaningful results within hours, not days.  Today, this same technology has not only extended these same benefits to other repeat expansion targets, including C9orf72, DMPK, and HTT, but also new applications, including the determination of gene copy number.

Introducing the AmplideX PCR/CE SMN1* and AmplideX PCR/CE SMN1/2* Kits, which apply the simplicity and streamlined testing workflows of AmplideX technology to quantify SMN1 and SMN2 copy number in less than 4 hours. Requiring only 50 minutes of hands-on-time, highly scalable to process over 90 samples per run, and compatible with the established suite of Applied Biosystems™ Genetic Analyzers these kits put sensitive and accurate detection of SMN1 and SMN2 copy number within the reach of laboratories everywhere.


Features and Benefits

Reduced Complexity
  • Similar workflow for AmplideX PCR/CE FMR1*and DMPK*kits eases implementation and training.
  • Scalable design enables high-throughput testing.
  • Automated copy number reporting streamlines data analysis.
Optimized Workflow
  • A simplified workflow with fewer hands on steps and no overnight hybridization.
  • Fully kitted solution with fewer incoming QC steps.
  • DNA-to-data in less than four hours with only 50 minutes of hands-on-time.
Quality Results
  • Differentiates between 0, 1, 2, 3, ≥4 copies for both SMN1 and SMN2 to cover range of expected results.
  • High specificity for both SMN1 and SMN2 ensures reliable results.
  • Accurate copy number resolution demonstrated through comparisons with multiple orthogonal methods.

*For Research Use Only. Not for use in Diagnostic procedures.
CE-IVD for US Export Only.

Figure 1: Testing Process for the AmplideX PCR/CE SMN1/2 Kit

Figure 2: Automated Results Reporting of SMN1 Results via AmplideX Reporter software



Figure 3: Comparison of Pipetting Steps and Instrument Time for AmplideX Kits and MLPA-based assays

The AmplideX PCR/CE SMN1 Kit* provides a rapid, robust, and reliable method for the quantification of SMN1 exon 7 copy number from whole blood and buccal samples.  With its streamlined PCR/CE workflow, rapid turnaround time, and automated results reporting software, the assay provides a simple and scalable SMN1 solution for all laboratories.

The AmplideX PCR/CE SMN1/2 Kit* provides a rapid, robust, and reliable method for the quantification of SMN1 and SMN2 exon 7 copy number from just a single PCR reaction.  With its minimal hands-on-time and delivery of results in under four hours, the assay puts SMN1 and SMN2 copy number determination within reach of laboratories everywhere.

Additional Resources

AMP 2018 Corporate Workshop Video

New Horizons for AmplideX® Technology: Portfolio Expansions to New High Complexity Targets & Beyond

Presented by:
Dr. Elizabeth Berry-Kravis, MD, Ph.D., Co-Director, Molecular Diagnostics Section of the Genetic Laboratory; Professor, Department of Pediatrics, Rush Medical College
Gary Latham, Ph.D., SVP, Research and Development, Asuragen, Inc.

“The AmplideX PCR/CE SMN1/2 Kit is streamlined, easy-to-use, and scalable,” said Elizabeth Berry-Kravis, MD, PhD, co-director of the molecular diagnostics section of the genetics laboratory and professor of pediatrics at Rush University Medical Center. “It has the potential to provide rapid, robust, molecular characterization of SMN1 and SMN2 copy numbers that we need now for diagnosis, prognosis, carrier screening, characterization and binning for treatment trials, and for efficient rapid insurance approvals for these patients where every week counts.”

Scientific Posters

Two-site Evaluation of a Rapid, Multiplexed PCR/CE Assay for Assessment of Spinal Muscular Atrophy SMN1 and SMN2 Copy Number Status
Presented at ACMG 2019
Click here to view the full poster

Streamlined, Single-tube PCR Assay that Quantifies SMN1 and SMN2 Copy Numbers using Capillary Electrophoresis
Presented at AMP 2018
Click here to view the full poster

A Unified PCR/CE Carrier Screening Workflow for CFTR, SMN1, and FMR1 Variants that Consolidates the Detection of SNVs, Indels, CNVs, and Triplet Repeat Expansions
Presented at ASHG 2018
Click here to view the full poster

A Rapid, High-Throughput Multiplex PCR/CE Assay that Reliably Quantifies SMN1 Copy Number
Presented at ASHG 2018
Click here to view the full poster

A Rapid, High-throughput PCR Fragment-sizing Assay for Quantifying Spinal Muscular Atrophy (SMN1, SMN2) Copy Numbers
Presented at ACMG 2018
Click here to view the full poster

*For research use only. Not for use in diagnostic procedures.

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