ESHG 2020

Join us during the ESHG 2020.2 Virtual Programme to learn about Asuragen’s growing family of AmplideX®️ testing kits which provide simple and streamlined solutions for the analysis of complex genomic targets. These products allow for single-day analysis of genes implicated in a broad spectrum of neurodevelopmental and neurodegenerative disorders, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and cystic fibrosis.

Corporate Satellite Meeting

Monday, June 8, 2020 – 12.00 – 13.00 hrs CEST

Looking Beyond Repeat Expansions: Using AmplideX® Technology to Detect Single Nucleotide Polymorphisms, Indels, and Copy Number Variations


Simple and Streamlined Detection of CFTR Variants Powered by AmplideX® Technology

Gary J. Latham, PhD, SVP Research & Development, Asuragen

AmplideX® technology has revolutionized how challenging regions of the genome can be analyzed, delivering meaningful results in hours with minimal hands-on time. With the prototype PCR/CE CFTR Kit, this powerful technology has been designed to enable the multiplexed, allele-specific detection of SNPs, Indels, and repeats via the same simple, common workflow. In this presentation, learn how this streamlined assay and prototype software system broadly detects pathogenic CFTR mutations across a diverse population, providing broader coverage than any other commercially-available targeted kit — all in less than five hours..                                                                               

Rapid, Comprehensive, and Complete SMN1/2 Profiling with the AmplideX® SMA Plus Kit (CE-IVD)

Henny Lemmink PhD, Clinical Laboratory Geneticist, Department of Genetics, UMC Groningen

Testing for spinal muscular atrophy spans both diagnostic and screening settings. Recent studies have demonstrated that SMN1 and SMN2 copy number information alone may not be sufficient to guide appropriate action for either testing scenario. In the diagnostic setting, reporting on the unique c.859G>C SMN2 disease modifier variant may help to refine disease prognosis.  Additionally, identifying “silent carriers” is of increasing demand when screening for asymptomatic carriers. In this presentation, a genome diagnostic laboratory will share their experience in using the AmplideX® SMA Plus Kit (CE-IVD), which provides copy number, silent carrier, and disease modifier information all from a single reaction and in less than four hours.

Scientific Posters

e-Poster Viewing with Authors

Group B: 13.00 and 13.45 hrs CEST on Monday, June 8

P16.17.B: A rapid multiplex PCR assay and software system with broad coverage of pathogenic CFTR mutations for diverse populations
Gary Latham, Pranesh Rao, Shoba Gokul, Elliot Hallmark, Connor Parker, Darshana Patel, Brad Hall


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Group C: 11.45 and 12.30 hrs CEST on Tuesday, June 9

P10.56.C: Analytical validation of a multiplex PCR/CE assay for simultaneous determination of SMN1/SMN2 exon 7 copy number and variant status
Walairat Laosinchai-Wolf, Jessica L. Larson, Justin Janovsky, Keri Jefferson, Darshana Patel, Melissa Church, Huiping Zhu, Gary Latham, John Milligan


Download Poster

To access our satellite and scientific posters, make sure to first register for the ESHG 2020 Virtual Platform:

Registered participants have free access to our corporate satellite, no need to register separately.

*For research use only. Not for use in diagnostic procedures.
†CE-IVD. For US export only.

Discover how our current portfolio of AmplideX solutions can empower your research and enhance your testing capabilities:
AmplideX® PCR/CE FMR1 Kit (CE-IVD)
AmplideX® mPCR FMR1
AmplideX® FMR1 Controls
AmplideX® PCR/CE C9orf72 Kit
AmplideX® PCR/CE TOMM40 Kit
AmplideX® PCR/CE DM1 Dx Kit (CE-IVD)
AmplideX® PCR/CE SMN1 Kit
AmplideX® PCR/CE SMN1/2 Kit
AmplideX® PCR/CE HTT Kit

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