Canon BioMedical, Melville, NY, has introduced the Novallele copy number assay, a simplified method to investigate deletions and duplications of individual genes. Determining SMN1 and SMN2 copy number, the polymerase chain reaction-based method requires only a thermocycler capable of high-resolution melting (HRM) and a single sample replicate. The assays are bench-tested and optimized to work with multiple HRM-capable thermocyclers and numerous DNA extraction methods. With some thermocyclers, results can be generated in less than an hour.
Most cases of spinal muscular atrophy are related to the deletion of a specific gene, SMN1. However, determining disease severity is a multifactor assessment relating to the copy number of a highly homologous gene, SMN2. Often, copy number variation studies of SMN1 and SMN2 require a combination of specialized instrument systems, laborious workflows, and expensive reagents.
Dennis Snyder, Canon BioMedical.
“Our research and development team worked really hard to make sure our new copy number assays perform consistently and reliably for our customers,” says Dennis Snyder, senior director of global commercial operations for Canon BioMedical. “We hope our copy number assays for the SMN1 and SMN2 genes will help researchers understand spinal muscular atrophy and advance treatment for this terrible disease.”
The Novallele copy number assays are now available in the United States directly from Canon BioMedical. In addition, the Novallele copy number assays are available in Belgium, Canada, Ireland, Luxembourg, the Netherlands, and the United Kingdom through the company’s distributors.
For more information, visit Canon BioMedical.
