ESHG 2018

Asuragen’s unique and proprietary AmplideX® chemistries allow for simple and streamlined solutions for complex genomic target analysis. Visit our booth and attend our satellite symposium at the 2018 ESHG Annual Meeting from June 16-18 in Milan, Italy to learn more about our expanding Genetics portfolio, including reagent kits for genes implicated in myotonic dystrophy, spinal muscular atrophy and Huntington’s disease.



Meet the Asuragen team and learn more about our current and upcoming testing kits for highly complex genetic targets.


New Frontiers for AmplideX Technology: Portfolio Expansion to New High Complexity Targets

Saturday, June 16
Brown Room 1
10:00-11:30 am

This symposium will showcase the expansion of AmplideX technology to new targets exhibiting trinucleotide repeat expansions, such as DMPK and HTT, as well as to genes where precise copy number resolution is of great interest, including SMN1 and SMN2.  Dr. Isabel Marques, Registered Clinical Laboratory Geneticist of Centro Hospitaldo Porto E.P.E., will share her experience with the new AmplideX PCR/CE DMPK Kit and how it represents a complete solution that eliminates the need for Southern blot analysis of this target.  Dr. Gary Latham, PhD, Senior Vice President Research & Development, Asuragen will then describe the AmplideX PCR/CE SMN1 and AmplideX PCR/CE SMN2 Kits, both currently in development, which leverage the simple, streamlined workflow benefits of the AmplideX PCR/CE FMR1 Kit allowing for  accurate and efficient  copy number determination for these targets.




Isabel Marques, ErCLG, PhD
Registered Clinical Laboratory Geneticist, Centro Hospital do Porto E.P.E, Porto, Portugal



Gary Latham, PhD
Senior Vice President, Research & Development, Asuragen

Poster P14.039C
Monday, June 18 10.15 – 11.15
Generalization of an Assay System Using Repeat-primed PCR and Capillary Electrophoresis to Resolve Multiple AT- and GC Rich Short Tandem Repeats Associated with Neurological Diseases
Presenting Author: Gary Latham, PhD, Senior VP of Research and Development, Asuragen

Describes the capability of the SeqStudio platform combined with AmplideX PCR technology to accurately and reliably size mono-, tri-, and hexa-nucleotide repeat expansions within several genes, including FMR1, C9orf72, TOMM40, DMPK, and HTT.

Sunday, June 17 10.15 – 11.15
A New Powerful PCR-Based Assay for the Molecular Diagnosis of Myotonic Dystrophy Type I
Presenting Author: Sophie Rondeau, Medical Genetic Unit, Necker-Enfants Malades Hospital

Describes the evaluation of the AmplideX PCR/CE DMPK Kit and reviews its workflow and performance in comparison to Southern blot for the detection and sizing of CTG repeats within the DMPK gene.

View our previously presented posters to learn even more about our upcoming AmplideX launches:
Presented at ACMG 2018

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

A Robust PCR/CE Assay Using AmplideX Technology for Rapid and Accurate Genotyping of CAG Repeat Expansions in HTT
Click here to view the full poster

Presented at ASHG 2017

Development of a Unified DMPK and CNBP PCR Workflow for Determining Repeat Expansions Relevant to Myotonic Dystrophies
Click here to view the full poster

Clinical Correlations of a Streamlined Molecular Assay Based on Amplidex PCR/CE Technology that Determines Repeat Size for Both Normal and Expanded Alleles in DMPK for Myotonic Dystrophy Type 1
Click here to view the full poster

Presented at ESHG 2017

Development of a Streamlined Molecular Assay that Determines Both Allele and Expanded Repeat Size in DMPK for Myotonic Dystrophy 1
Click here to view the full poster

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

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