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.
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
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.
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.
A Rapid, High-throughput PCR Fragment-sizing Assay for Quantifying Spinal Muscular Atrophy (SMN1, SMN2) Copy Numbers
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A Robust PCR/CE Assay Using AmplideX Technology for Rapid and Accurate Genotyping of CAG Repeat Expansions in HTT
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Development of a Unified DMPK and CNBP PCR Workflow for Determining Repeat Expansions Relevant to Myotonic Dystrophies
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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
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Development of a Streamlined Molecular Assay that Determines Both Allele and Expanded Repeat Size in DMPK for Myotonic Dystrophy 1
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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