ESHG 2019

Visit Asuragen at the 2019 ESHG Conference
STAND #274 | Gothenburg, Sweden | June 15–18, 2019

Asuragen’s unique and proprietary AmplideX® chemistries power simple and streamlined solutions for analysis of complex genomic targets.

Visit our STAND #274 to learn more about our newly launched AmplideX PCR/CE SMN1/2 Kit*, which enables accurate quantification of SMN1 and SMN2 copy number in less than four hours. This assay is the latest addition to our rapidly growing Genetics portfolio, which also includes kits for genes implicated in a broad spectrum of neurodevelopmental and neurodegenerative disorders, including fragile X syndrome, myotonic dystrophy, and Huntington’s disease.

Sunday, 16 June
11:15 – 12:45 hrs
Room A2

Shining a Light on Dark DNA: Simple and Streamlined Solutions for SMN1/2 Copy Number Determination, HTT Expansions and More…
This corporate satellite will highlight the extension of AmplideX® technology to new genomic targets, including those exhibiting trinucleotide repeat expansions, such as HTT, as well as genes where precise copy number resolution is required, including SMN1 and SMN2.


SMN1 and SMN2 Testing Made Simple: Rapid and accurate quantitation of SMN1 and SMN2 copy number with the AmplideX® PCR/CE SMN1/2 Kit*

Márcia Oliveira, PhD, ErCLG
Centro Hospitalar do Porto E.P.E
Centro de Genetica Medica Doutar Jacinto de Magalhaes, Unidade de Genetica Molecular
Porto, Portugal

A Physician’s and a Scientist’s Perspective on Huntington’s Disease: How the AmplideX® PCR/CE HTT Kit* meets the need for simple and reliable sizing of pathogenic HTT expansions

Ferdinando Squitieri, MD, PhD, Neurologist
Head of Neurology CSS- Mendel Institute of Human Genetics
Head of Huntington and Rare Diseases Unit IRCCS
Scientific Officer and Co-founder Lega Italiana Ricerca Huntington e Malattie onlus Foundation
Rome, Italy

Sunday, 16 June 16:45-17:45
Group B

P10.35B: Accurate single-tube quantification of SMN1 and SMN2 copy numbers using a rapid and streamlined PCR/CE assay evaluated at two different laboratories
Márcia Oliveira, PhD, ErCLG

P14.039B: Analytical validation of a sensitive myotonic dystrophy type 1 (DM1) diagnostic test that provides precise repeat sizing and resolves zygosity in a single PCR
Gary Latham, PhD

Monday, 17 June 16:45-17:45
Group D

P09.061D: A novel repeat-primed PCR assay to detect the full range of trinucleotide CAG repeats in Huntingtin gene (HTT)
Federica Consoli, MD, PhD

P01.28D: Absence of AGG interruptions is a risk factor for a full mutation expansion among ethnically diverse FMR1 premutation carriers
Noam Domniz, MD

*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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