Despite the mapping of the human genome, the accurate detection of both germline and somatic variants continues to challenge laboratories. Several neurological diseases such as myotonic dystrophy, spinal muscular atrophy, and Huntington’s disease are associated with genomic aberrations such as repeat expansions and copy number variants that are difficult to analyze. In oncology, the robust and reliable profiling of both DNA- and RNA-associated variants is needed to uncover new scientific breakthroughs to advance outcomes for patients in need.
Leveraging its proprietary, simple-to-use, and easy-to-implement technologies, Asuragen is committed advancing research around these challenging targets by providing robust and reliable testing kits for these challenging targets, putting their routine analysis within the reach of laboratories everywhere.
Visit us at booth #1207 at the Association for Molecular Pathology 2018 Annual Meeting to learn more about our expanding portfolios and how our suite of products may be the solution you’re looking for.
New Horizons for AmplideX® Technology: Portfolio Expansions to New High Complexity Targets & Beyond
Presented by:
Dr. Elizabeth Berry-Kravis, MD, Ph.D., Co-Director, Molecular Diagnostics Section of the Genetic Laboratory; Professor, Department of Pediatrics, Rush Medical College
Gary Latham, Ph.D., SVP, Research and Development, Asuragen, Inc.
AmplideX® PCR technology provides easy-to-use, reliable and accurate genotyping solutions for complex gene targets such as FMR1 and DMPK. This versatile approach underlies our recently launched AmplideX PCR/CE SMN1 Kit (RUO) that uses a common workflow with our existing products to determine copy number. This workshop will address a range of challenging genetic questions by highlighting the attributes of this new kit as well as additional products under development that unify SMN1 and SMN2 copy number quantification, and genotype CAG repeat expansions in HTT (huntingtin gene).
Wednesday, October 31
10:00 – 10:50 AM
Room 217BC
G026: Two-site Evaluation of a One-tube PCR/CE Assay that Resolves CAG Length Polymorphisms in Exon 1 of the HTT Gene
Presented by Sarah Statt, Ph.D.
Friday, November 2
11:15am-11:30am
Friday, November 2
2:30 – 3:30pm
Informatics
I004: A Machine-Learning Framework for Accurate Classification and Quantification of Oncogenic Variants Using the QuantideX® NGS DNA Hotspot 21 Kit
Presented by Lando Ringel
Solid Tumors
ST130: Analytical Validation of the QuantideX® NGS DNA Hotspot 21 Kit, a Diagnostic NGS System for the Detection of Actionable Mutations in FFPE Tumors
Presented by Kevin Kelnar
Genetics
G026: Two-site Evaluation of a One-tube PCR/CE Assay that Resolves CAG Length Polymorphisms in Exon 1 of the HTT Gene
Presented by Sarah Statt, Ph.D.
G058: Evaluation of a Single-tube, Long-read, Two-mode PCR Technology that Reports the Categorical Range of DMPK CTG Expansions and Resolves up to 2000 Repeats in Myotonic Dystrophy Type 1
Presented by Brad Hall, Ph.D.
Saturday, November 3
9:45 – 10:45am
Genetics
G027: A Streamlined, Single-tube PCR Assay that Quantifies SMN1 and SMN2 Copy Numbers Using Capillary Electrophoresis
Presented by Ila-Laosinchai-Wolf