Largest North American Site for FSHD Muscular Dystrophy Testing Adopts Bionano Genomics’ Saphyr for Majority of Clinical Tests 

SAN DIEGO, April 22, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced that the University of Iowa Hospitals and Clinics (UIHC) will switch their method of clinical molecular testing for patients with presumed Facioscapulohumeral Muscular Dystrophy (FSHD) to optical mapping using Bionano’s Saphyr System. The UIHC recently completed development of an FSHD assay on Saphyr and validated its results by processing patient samples for FSHD.  Following this evaluation, the UIHC is implementing this month a Saphyr-based assay into its clinical testing workflow.

FSHD affects approximately 1 in 10,000 individuals in the United States. It is usually caused by deletion or loss of DNA in a section of chromosome 4 shortening a critical repeat element, the D4Z4 repeat, that plays an essential role in regulating the expression of the DUX4 gene. One component of genetically confirming a diagnosis of FSHD is measuring the exact number of D4Z4 repeats.

The Molecular Pathology Laboratory at the University of Iowa, directed by Aaron Bossler MD, PhD, is the largest FSHD testing site in North America and to date has relied on the labor-intensive technique of Southern blotting for FSHD molecular diagnostic testing. The Saphyr System from Bionano provides a safe, fast and automated system to more accurately size patient alleles and determine the number of D4Z4 repeats. The University of Iowa FSHD testing involves a comprehensive algorithm which utilizes Bionano’s EnFocus™ FSHD Analysis tool to accurately represent the repeat number with a high sensitivity for mosaicism and distinguish the presence or absence of the permissive haplotype for pathogenic and non-pathogenic variants.

Dr. Bossler commented: “The optical mapping technology and analysis program from Bionano is very useful for FSHD testing because the allele repeat sizing is highly accurate, the assay uses a lot less specimen and the turnaround time is faster. We anticipate that it will improve our ability to identify pathogenic alleles for this challenging disease.”

While FSHD testing is the first assay to be developed and validated using the Saphyr platform, the UIHC molecular team is assessing other genetic targets to analyze with Saphyr in order to diagnose other disease-associated chromosomal abnormalities.

Erik Holmlin, PhD, CEO of Bionano Genomics commented: “Bionano Genomics continues to push into clinical settings and provide clinicians with a modern tool to re-evaluate and streamline the practice of molecular diagnostics and cytogenetics.  We are thrilled to see the team at the University of Iowa complete their validation and begin offering patients an accurate, next-generation assay based on our Saphyr system, which we expect will benefit clinicians, patients and their families.  We believe the FSHD assay will be the first in a wide array of clinical assays that the UIHC and other labs will develop with our technology.”

About Bionano Genomics

Bionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing. Bionano’s Saphyr system is 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 streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. For more information, visit www.bionanogenomics.com.

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, among other things, our expectation that the Saphyr-based FHSD assay will benefit clinicians, patients and their families, and our belief regarding the development of other clinical assays by the University of Iowa and other labs using our technology. 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 Saphyr may not be as effective as expected and the UIHC could deemphasize its use of the Saphyr system, 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, 2019 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.

Contacts

Company Contact:
Erik Holmlin, Ph.D., CEO
Bionano Genomics, Inc.
+1 (858) 888-7600
eholmlin@bionanogenomics.com

Investor Relations Contact:
Ashley R. Robinson
LifeSci Advisors, LLC
+1 (617) 430-7577
arr@lifesciadvisors.com

Media Contact:
Kirsten Thomas
The Ruth Group
+1 (508) 280-6592
kthomas@theruthgroup.com   

Department of Pathology:
Aaron Bossler, MD, PhD
Director, UIHC Molecular Pathology
(319) 384-9566
aaron-bossler@uiowa.edu

Robert A. Robinson, MD, PhD
Medical Director, UIDL
319-356-4163
Robert-a-robinson@uiowa.edu

UIDL Business Relations:
Mary Sue Otis
Manager, UIDL
319-356-3533
Marysue-otis@uiowa.edu

UIDL Client Services for shipping and ordering questions and supplies:
866-844-2522
UIDLClientServices@healthcare.uiowa.edu 

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