Features & Benefits

Reduced Complexity

• Similar workflow to AmplideX PCR/CE FMR1*† kit eases implementation and training
• Multiplexed, scalable design allows analysis of single-nucleotide variants, small indels, and copy-number changes from a single PCR reaction
• Assay-specific software automates variant calls and streamlines data analysis

Optimized Workflow

• DNA-to-data in less than four hours with only 60 minutes of hands-on-time
• Optimized for use on commonly installed CE equipment
• Fully-kitted solution sourced from a single vendor

Quality Results

• Ability to differentiate between 0, 1, 2, 3 and ≥4 copies for both SMN1 and SMN2
• Automated variant and copy-number genotyping
• Accuracy demonstrated through comparisons with multiple orthogonal methods

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

Analytical Performance

• Automated reporting of SMN1/2 copy number and variant detection via AmplideX Reporter Software (Figure 1)
• DNA to data in less than four hours – all from a single PCR reaction (Figure 2)
• Excellent concordance of SMN1 and SMN2 copy number results to sites’ in-house methods for over 500 replicates (Figure 3)
• High assay specificity permits detection of SMN1–SMN2 hybrid peaks, including those resulting from gene conversion events (Figure 4)
• 100% agreement between Sanger sequencing and PCR/CE SMN1/2 Plus Kit for detection of SMN1 gene duplication and SMN2 disease modifier variants (Figure 5).

Figure 1. Example Electropherogram Output – AmplideX PCR/CE SMN1/2 Plus Kit

Figure 2. AmplideX PCR/CE SMN1/2 Plus Kit Testing Workflow

Figure 3. Reproducibility of SMN1 and SMN2 copy number reporting across sites for over 500 replicates.

Figure 4. Detection and differentiation of SMN1 and SMN2 hybrid peaks.

Figure 5. Agreement between AmplideX PCR/CE SMN1/2 Plus Kit and Sanger sequencing for SMN1 gene duplication and SMN2 disease modifier variants

Additional Resources

Videos

View poster

View poster

Posters

A Rapid Diagnostic and Screening System for Spinal Muscular Atrophy that Reports Copy Number Changes, Single Nucleotide Variants and Small IndelsView Full Poster

Disease Background

• General Information
  • SMA is a debilitating illness resulting from the deficient production of motor neurons in the central nervous system and is a leading genetic cause of infant death.
  • It is transmitted via an autosomal recessive inheritance pattern
• Diagnosing SMA
  • SMA is diagnosed when no functional copies of the SMN1 gene are present
  • Disease severity is inversely correlated to the number of SMN2 copies present
  • Life-saving treatments must be started early, so rapid delivery of diagnostic test results is critical
• Carrier Screening
  • Approximately 1 in 50 individuals is a carrier of SMA
  • clinical advisory committees (American College of Medical Genetics (ACMG), American College of Obstetrics and Gynecology (ACOG)) recommend screening be available to all couples regardless of ethnicity

Features & Benefits

Reduced ComplexityEase of data analysis and reporting

• One kit to identify SMA patients, carriers (including detection of variants associated with silent carriers), and refine disease prognosis – all from a single PCR reaction
• Similar workflow to AmplideX PCR/CE FMR1^*† kit eases implementation and training
• Assay-specific software automates results reporting and streamlines data analysis

Optimized WorkflowReduces valuable operator hands-on-time and overall turnaround time

• Diagnostic and screening results are reported in less than four hours with only 60 minutes of hands-on-time
• Scalable workflow supports high sample throughput testing
• Optimized for use on widely installed CE equipment
• Fully-kitted solution sourced from a single vendor

Quality PerformanceComprehensive analysis of SMN1 and SMN2 genes for the diagnosis and screening of SMA

• High resolution of SMN1/2 copy number across a broad range improves accuracy in identifying SMA patients and carriers
• Excellent concordance of copy number and variant results compared to multiple orthogonal test methods

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

Analytical Performance

• Automated and streamlined reporting of SMN1 and SMN2 copy number and variant detection via AmplideX Reporter Software (Figure 1)
• Provide critical test results from a single reaction — and all in less than four hours (Figure 2)
• Excellent concordance of SMN1 and SMN2 copy number results to sites’ in-house methods for over 400 replicates (Figure 3)
• High assay specificity permits detection of SMN1–SMN2 hybrid peaks, including those resulting from gene conversion events (Figure 4)
• 100% agreement observed between Sanger sequencing and AmplideX SMA Plus Kit for detection of SMN1 gene duplication and SMN2 disease modifier variants (Figure 5).

Figure 1.  Example Electropherogram Output for the AmplideX SMA Plus Kit

Figure 2.  AmplideX SMA Plus Kit Testing Workflow

Figure 3.  Excellent reproducibility of SMN1 and SMN2 copy number reporting across sites for over 400 replicates

Figure 4.  Detection and identification of SMN1 and SMN2 “hybrid peaks”

Figure 5. Agreement between AmplideX SMA Plus Kit and Sanger sequencing for SMN1 gene duplication (“silent carrier”) and SMN2 disease modifier variants

Additional Resources

Videos

Analytical validation of a multiplex PCR/CE assay for simultaneous determination of SMN1/SMN2 exon 7 copy number and variant status (Milligan J, et al).  Presented at ESHG 2020.2 Virtual Conference.

Looking Beyond Copy Number, Part 2:  Rapid, Comprehensive, and Complete SMN1/2 Profiling with the AmplideX^® SMA Plus Kit + Q&A (Lemmink H, et al).  Presented at ESHG 2020.2 Virtual Conference.