ESHG 2021

Powering Genetic Testing for Challenging Genes

a step forward using technology to help fill the gaps for rare diseases 

Asuragen is a leading provider of testing kits for complex inherited diseases, many of which present technical challenges for traditional laboratory approaches. Our powerful and versatile AmplideX technology serves as the backbone of our broad and growing genetic testing kit portfolio, which includes products for the diagnosis of diseases including fragile X syndrome (FXS), spinal muscular atrophy (SMA), and myotonic dystrophy type I (DM1). Our kits offer simple, streamlined, single-day testing workflows, empowering laboratories everywhere to test for these important, yet technically challenging, diseases with unprecedented ease.

At ESHG 2021, we are proud to showcase our newest products and latest innovations, including the AmplideX®️ PCR/CE SMA Plus Kit*, for the diagnosis and screening of SMA, and the upcoming AmplideX®️ PCR/CE CFTR Kit**, for the multiplexed detection of pathogenic CFTR variants across a broad spectrum of ethnicities. We welcome you to join us during our LIVE Corporate Satellite session and poster presentation to learn more,

Asuragen Live Corporate Satellite
Tuesday, 31 August | 14.15 – 15.15 hrs CEST

Looking Beyond Copy Number
Using AmplideX Technology to Support SMA Diagnosis, Screening, and Research

Spinal muscular atrophy (SMA) is a devastating neurodevelopmental illness caused by a loss of SMN1copies, with disease severity largely determined by the number of SMN2 copies. But is determining copy number enough? New evidence indicates that detecting the presence of an SMN2 disease modifier variant (c.859G>C) may influence SMA prognosis. Additionally, the detection of SMN1 gene duplication variants associated with silent carrier status may help provide a more accurate residual risk estimate for being a carrier for the disease.

In this Corporate Satellite presentation, we will review the design and workflow of the new AmplideX®PCR/CE SMN1/2 Plus* and SMA Plus** Kits, which provide SMN1 and SMN2 copy number, silent carrier, and disease modifier information all from just a single PCR reaction in under four hours. The latest assay accuracy, reproducibility, and multisite performance data from a new peer-reviewed publication will also be discussed.

Presented by:
John Milligan, PhD
Senior Manager, R&D, Asuragen
Watch the Video

Scientific Poster
Tuesday, 31 August | 11.45 – 12.50 hrs CEST

Automated Deep Learning Software for PCR/Capillary Electrophoresis Fragment Analysis Enables Efficient Pan-Ethnic CFTR Testing at Scale | P17.017.D 
Key Learnings
    • We developed a PCR/CE CFTR assay that detects 67 pathogenic variants including SNPs, INDELs, CNVs, and tandem repeats covering ≥93% of carriers and ≥99% of affected individuals by mutation prevalence determined by large-scale, pan-ethnic population studies.
    • Downstream mutation analysis is tedious, manual, and error prone. To overcome these challenges, we developed software powered by deep learning CE analysis algorithms to perform automated sample genotyping and QC interpretation.
    • We trained a deep convolutional neural network to classify peaks within the raw signal and then developed assay-specific logic to translate peak calls into sample genotypes. Automated genotyping and QC logic was bundled into push-button reporting software for use with the PCR/CE assay.
    • Our automated genotyping software achieved performance (>99.5% SNP- & INDEL-level accuracy) on par with trained technicians. For CNVs (e.g. CFTRdele 2,3), we achieved >99% accuracy.
    • Overall time for analysis and resulting was reduced from over two hours to <10 minutes per 96 samples.

Presented by:
Elliot Hallmark
Senior Analyst, Bioinformatics, Asuragen
Watch the Video


Learn more about Asuragen’s product offerings via the resources below.

Contact Us

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

**Product in development.  Specifications not finalized.



Back To