Asuragen Launches the AmplideX® PCR/CE C9orf72 Kit for High-Resolution Genotyping of GC-rich Repeat Expansions Relevant to Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Austin, Texas – July 6, 2016 – Asuragen Inc., a global molecular diagnostics company, announced the launch of the AmplideX PCR/CE C9orf72 Kit*. The PCR/capillary electrophoresis-based assay leverages Asuragen’s proven, proprietary technology for analyzing high homology and GC-rich content.
Asuragen has established the market-leading commercial technology for the reliable amplification and analysis of CGG triplet repeats in the FMR1 gene, which is associated with Fragile X Syndrome, Autism, and FXTAS, a neurodegenerative disorder. The AmplideX PCR/CE C9orf72 Kit represents a further expansion of this technology into neurogenetics. The kit provides clinical and pharmaceutical researchers a method for high-resolution genotyping of hexanucleotide repeat expansions in C9orf72, a gene of emerging interest in frontotemporal dementia (FTD) – the second most common form of early onset dementia after Alzheimer’s Disease – and amyotrophic lateral sclerosis (ALS).
Professor Vivianna Van Deerlin, M.D., Ph.D., Director of the Molecular Pathology Laboratory at the Hospital of the University of Pennsylvania, a leading researcher in ALS and FTD and early evaluator of Asuragen’s assay, commented “Hexanucleotide repeat expansions in C9orf72 represent a critical genetic marker of ALS and FTD, and potentially other neurodegenerative disorders. Asuragen’s assay offers significant improvements in repeat sizing, signal intensity, workflow, and ease-of-use compared to our current method. We have been impressed by the level of molecular resolution and range of information possible using challenging specimens from our extensive tissue bank of blood and brain specimens.”
Although most individuals have fewer than ten G4C2 repeats in C9orf72, this sequence can expand to hundreds or thousands of repeat units in patients with neurodegenerative diseases. Established C9orf72 PCR methods typically quantify only 30-45 repeats, and multiple PCR assays are often used to genotype unexpanded samples and flag large expansions. Asuragen’s assay is a single-tube PCR that quantifies up to 145 repeats by capillary electrophoresis (CE), identifies both short and long expansions, and reports sequence variability near the repeat region using only 40 ng of genomic DNA. The kit streamlines existing workflows while delivering more insightful data and reducing the reliance on other cumbersome assays, such as Southern blotting.
“Asuragen has developed a unique PCR/CE system that overcomes a range of technical and workflow hurdles to provide reproducible, high-fidelity, and long-read analyses of repeat regions, which collectively comprise half of the human genome.” said Matthew McManus, M.D., Ph.D., Asuragen’s President and CEO. “We believe it’s important to develop product solutions across a wide range of molecular platforms since no single technology, not even next-generation sequencing, will be the right answer for every tough molecular question. C9orf72 genotyping is a great example of a problem that Asuragen’s PCR/CE chemistries are ideally suited to solve.”
*For research purposes only. Not for diagnostic use.
Asuragen is a global diagnostic products company delivering solutions that build knowledge and understanding of complex clinical questions. Asuragen’s application of its deep scientific heritage and molecular expertise delivers diagnostic products in oncology and genetics that provide the best answers with optimal workflows – so time can be spent delivering actionable insights, rather than searching for them. With innovative approaches to kit development and a broad range of molecular chemistries, Asuragen produces assays that ensure reproducible results. From discovery and development to regulatory support to global commercialization, we also provide a tailored approach that efficiently delivers custom and companion diagnostic products for our partners. For more information, visit www.asuragen.com.
SVP, Corporate Development and CFO