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Bionano Genomics Announces Adoption of Its Saphyr® System by Clinical Cytogenetics Groups in Academia and Industry to Replace Traditional Methods for Clinical Testing
Successful validation of Saphyr to replace “gold standard” method of southern blotting for molecular diagnosis of FSHD supports broad utility of Saphyr SAN
About this update from Bionano Genomics, Inc.
[{"type":"text","content":"Successful validation of Saphyr to replace “gold standard” method of southern blotting for molecular diagnosis of FSHD supports broad utility of Saphyr\nSAN DIEGO, Oct. 16, 2019 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (NASDAQ: BNGO), a life sciences instrumentation company that develops and markets the Saphyr® system, a genome imaging platform for ultra-sensitive and ultra-specific genome-wide structural variation detection, today announced that leading organizations, including PerkinElmer Genomics and the University of Iowa, have adopted Saphyr for use in their clinical genomics laboratories. PerkinElmer Genomics and the University of Iowa have developed assays based on the Bionano optical mapping technology to expand their comprehensive suite of genetic tests assessing disease-associated chromosomal abnormalities. Their lead indication is Facioscapulohumeral Muscular Dystrophy (FSHD).\n FSHD is one of the most prevalent forms of muscular dystrophy and affects approximately 1 in 10,000 individuals. It is caused by changes in the number of repeats in a section of chromosome 4. To correctly diagnose FSHD, an exact count of the repeat number is necessary. To date, molecular diagnoses for FSHD are generated using outdated Southern Blot techniques, which are imprecise, labor intensive and involve radioactive labeling methods which are being phased out of laboratory use for safety reasons. In contrast, the assays developed by PerkinElmer Genomics and the University of Iowa with the Bionano EnFocus™ FSHD Analysis tool are reproducible, safe, fast, and automated with minimal hands-on time. These assays provide an exact repeat number for the pathogenic and non-pathogenic variants, give a high-resolution view of the repeat regions and have a high sensitivity to mosaicism. Jamshid Arjomand, Ph.D., CSO of the FSHD Society, the leading research-focused patient organization for FSHD, said, “The FSHD community has been waiting years for an accessible and robust assay like this. The lack of timely and affordable genetic testing has been a major hurdle for the FSHD community. Thousands of patients have never received a molecular diagnosis, which limits successful recruitment into the increasing number of clinical research and clinical trial studies for this devastating disease. We are delighted that Bionano’s Saphyr system enables a more pre...