ASHG 2020

Asuragen has helped transform how challenging genetic sequences can be analyzed, providing simple-to-use and easy-to-implement testing solutions that provide helpful answers in hours – not days or weeks.  From quantifying repeat expansions in FMR1, to determining copy number in SMN1 and SMN2, to multiplexed detection of SNVs and other structural variants in CFTR, our foundational AmplideX PCR technology is unmatched in its simplicity, versatility, and robustness.

In addition to showcasing our rapidly growing portfolio of AmplideX testing kits, this year we are proud to highlight our ongoing collaboration with Pacific Biosciences, a leading provider of innovative long-read sequencing technology. By joining forces, we aim to amplify the un-amplifiable and sequence the un-sequenceable, opening the door for endless possibilities.

Visit us – virtually! – at ASHG 2020 to learn more about our growing portfolio of AmplideX test kits and all of our latest developments in human genetics.


Collaboration with Pacific Biosciences

At this year’s ASHG 2020 virtual meeting, we are excited to showcase our ongoing collaboration with Pacific Biosciences and share preliminary data resulting from this partnership.

Proof-of-Concept Data for Select Carrier Screening Targets
We will first develop unified assays for carrier screening through this new collaboration.  The analysis of several high-prevalence carrier genes, such as FMR1CYP21A2 and F8, requires specialized methods that can burden laboratories with inefficient workflows while often producing suboptimal results. We tested the capabilities of AmplideX® PCR and SMRT® Sequencing to resolve challenging regions of these genes – with very promising results. View this exciting proof-of-concept data below.


Pacific Biosciences Platform Presentation
Asuragen’s enrichment capabilities will be featured in PacBio’s platform presentation, “Targeting clinically significant “dark” regions of the human genome with high accuracy long-read sequencing.” The presentation will be presented October 27th at 12:15pm EDT.  For more information on this presentation and the broader program, see below.  Note:  You must be registered to attend ASHG 2020 to attend the virtual presentation.

Session 005: Molecular and Cytogenetic Diagnostics: What Have We Been Missing?

Select Presentation: 1033 – Targeting clinically significant “dark” regions of the human genome with high accuracy long-read sequencing.

Date: Tuesday, October 27

Time: 12:15 PM – 12:30 PM EDT

Presenter: C. Heiner, PhD (Pacific Biosciences)


Scientific Poster

Our latest in-development AmplideX® testing kit is featured in the ASHG 2020 scientific poster session this year. We invite you to watch the presentation below or view it on-demand during the conference program.

Quality over quantity: comparison of pathogenic CFTR variants across 9 targeted kit panels reveals gaps and opportunities for more comprehensive cystic fibrosis carrier screening
Presented by: J. Larson, PhD

Video Presentation

On-demand @ ASHG 2020

Date: October 26, 2020
Time: On-Demand.  6:00 AM – 11:59 PM

To access this ASHG 2020 Scientific Poster, please visit the link below:!/9070/presentation/2721


Virtual Booth

Not yet registered for ASHG 2020?  Click HERE to get started.
Already registered?  Click HERE to access the Exhibition Hall and the Asuragen Virtual Booth.

AmplideX® Testing Kits

Please click on the links below to learn more about our AmplideX® family of products for the detection of challenging genomic variants.

AmplideX® Fragile X Dx & Carrier Screen Kit
AmplideX® PCR/CE FMR1 Reagents
AmplideX® mPCR FMR1
AmplideX® FMR1 Controls
AmplideX® PCR/CE C9orf72 Kit
AmplideX® PCR/CE DMPK Kit
AmplideX® PCR/CE SMN1/2 Plus Kit
AmplideX® PCR/CE HTT Kit


Contact Us

Want to connect with Asuragen? Click HERE and complete the form to be contacted by an Asuragen representative.

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