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UIDL adopts FSHD optical mapping using Bionano's Saphyr System

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

University of Iowa Diagnostic Laboratories (UIDL) to use Bionano-based assay
to replace most “gold standard” Southern blot tests for molecular diagnosis of FSHD


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FSHD-(FSHD1 & FSHD2) Detection of Abnormal Alleles with Interpretation
FSHD - Prenatal Detection of Abnormal Alleles with Interpretation


SAN DIEGO, CA, April 22, 2020 – Bionano Genomics, Inc. (Nasdaq: BNGO) announced that the University of Iowa Diagnostic Laboratories (UIDL) in Iowa City, Iowa USA 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 UIDL recently completed development of an FSHD assay on Saphyr and validated its results by processing patient samples for FSHD.  Following this evaluation, the UIDL 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 UIDL, 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 UIDL 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 distinquish 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 turn around 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 UIDL 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 UIDL 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 UIDL 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.

UIDL Contacts

Aaron Bossler, MD, PhD
Director, Molecular Pathology

Robert A. Robinson, MD, PhD
Medical Director, UIDL

Mary Sue Otis, MBA
Client Relations/Business Manager

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