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 also excited to share our pioneering work to simplify and streamline the analysis of challenging genes central to carrier screening. View Scientific Poster [2021-A-2261-ASHG] to see how the combined forces of Asuragen chemistry and Oxford Nanopore long-read sequencing technology provide a single workflow to detect complex structural variants in genes including FMR1, F8, CYP21A2, HBA1/2, GBA and SMN1.
Visit us – virtually! – at ASHG 2021 to learn more about Asuragen’s new and upcoming products, as well as all of our latest developments in human genetics.
Sarah Statt, Jon Kemppainen, Melissa Church, Cody Edwards, Jonathan Turner, Justin Janovsky, Stela Filipovic-Sadic, Julie R Thibert, Bradley Hall, Liangjing Chen, Theodore Markulin, James Hernandez, Jacob Wisotsky, Brian C Haynes, and Gary J Latham
Poster Presentations – Poster Session D: 3:30pm- 4:30pm EDT
Emerging revolutionary treatments for spinal muscular atrophy (SMA) require a fast diagnosis. Also, SMA carrier screening is recommended for all women considering pregnancy. It’s challenging for laboratories to provide timely and comprehensive information for diagnosis and carrier screening. We’re working to ensure labs can quickly provide comprehensive information on SMN1 and SMN2.
Cystic fibrosis screening tests should provide reliable answers for all people, but there are concerning gaps in CFTR coverage. We’re working to resolve this to ensure broad CFTR testing coverage for all.
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
AmplideX® PCR/CE CFTR Kit
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