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Bionano Genomics’ Saphyr® System is Adopted by GeneDx for the Clinical Detection of Genetic Variants in Muscular Dystrophies, Developmental and Reproductive Disorders
A new generation of Bionano-based assays to be brought to the clinic by GeneDx SAN DIEGO, Jan. 06, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (NASDAQ:
About this update from Bionano Genomics, Inc.
[{"type":"text","content":"A new generation of Bionano-based assays to be brought to the clinic by GeneDx\nSAN DIEGO, Jan. 06, 2020 (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 the adoption of Saphyr by GeneDx, Inc., to develop assays that will transition to their clinical laboratory in Gaithersburg, MD. Assays based on the Bionano optical mapping technology will complement GeneDx’s current testing methodologies.\n “Saphyr addresses the need for more and better patient testing for diagnosis and research in drug development. GeneDx’s adoption of the Saphyr System illustrates the need for advanced tools to test for conditions caused by large structural variants (SVs; >500bp) where short-range NGS isn’t ideal,” said Erik Holmlin, Ph.D., CEO of Bionano. “We are excited that the Bionano technology will enable GeneDx to bring a new generation of assays to the clinic.” Bionano technology allows for the detection of copy number events (CNVs), FSHD repeat contractions, repeat expansions such as those in Myotonic Dystrophy, balanced and unbalanced translocations, and other complex rearrangements. Bionano technology will be used to complement the core technologies at GeneDx to develop assays that will be the next step toward finding more answers for patients and families with muscular dystrophies, developmental and reproductive disorders. ”GeneDx was one of the first commercial laboratories to offer Sanger sequencing for monogenic disorders and multigene panels and implement microarray for copy number events, as well as Next Generation Sequencing (NGS) panels and to introduce exome sequencing,” stated Sean Hofherr, Ph.D., FACMG, Chief Scientific Officer and CLIA Lab Director of GeneDx. ”We are proud to continue our history of being a clinical genomics pioneer, and be one of the first commercial laboratories to develop and validate assays based on the Bionano Saphyr System in a clinical setting under CLIA/CAP guidelines. The Saphyr technology is groundbreaking and will allow us to look at the ‘dark matter of the genome’ - large repeats of DNA sequence, inversions, deletions, duplications and translocations.” About Bionano Genomics Bionano is a li...