Bionano Genomics’ Saphyr® System is Adopted by GeneDx for the Clinical Detection of Genetic Variants in Muscular Dystrophies, Developmental and Reproductive Disorders

SAN 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.

“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 life sciences instrumentation company in the genome analysis space. Bionano develops and markets the Saphyr system, a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to drive the adoption of digital cytogenetics, which is designed to be a more systematic, streamlined and industrialized form of traditional cytogenetics. The Saphyr system comprises an instrument, chip consumables, reagents and a suite of data analysis tools.

About GeneDx, Inc.

GeneDx, Inc. is a global leader in genomics, providing testing to patients and their families from more than 55 countries. Led by its world-renowned exome sequencing program, GeneDx has an acknowledged expertise in rare and ultra-rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics and targeted variant testing. GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly owned subsidiary of OPKO Health, Inc. To learn more, please visit

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “may,” “will,” “expect,” “plan,” “anticipate,” “estimate,” “intend” and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, including among other things, adoption of Saphyr as a routine tool in research and clinical settings and the effectiveness and utility of the Saphyr system in such settings and GeneDx’s plans to use our technology for research, development and validation of assays. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks that our sales, revenue, expense and other financial guidance may not be as expected, as well as risks and uncertainties associated with general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of key clinical studies to demonstrate the effectiveness of our products; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2018 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.


Company Contact:
Erik Holmlin, CEO
Bionano Genomics, Inc.
+1 (858) 888-7600

Investor Relations Contact:
Ashley R. Robinson
LifeSci Advisors, LLC
+1 (617) 775-5956

Media Contact:
Kirsten Thomas
The Ruth Group
+1 (508) 280-6592

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