First Extensive Validation Study of Saphyr for Constitutional Genetic Disorders by European Consortium Shows 100% Concordance to Standard Cytogenetics and Describes Resolution of Cases of Long-Standing, Undiagnosed Disease

• First large study in constitutional genetic diseases showed 100% concordance to gold-standard cytogenetic testing
• In patients with leukemia, Saphyr enabled crucial discoveries including novel fusion events never described before in that disease
• Saphyr solved previously unidentified genetic diseases by finding novel mutations
• Making continued progress on goal to become the new standard of digital cytogenetic testing

SAN DIEGO, July 08, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that two top cytogeneticists from leading institutions in The Netherlands and France presented their research data as part of a multicentric, international effort to compare data generated with Bionano’s Saphyr system against gold standard cytogenetic methods consisting of karyotyping, FISH, and/or chromosomal microarray in patients with a variety of constitutional or inherited genetic disorders and in patients with leukemias. In back-to-back online presentations, each showed 100% concordance between Saphyr and standard cytogenetics along with other discoveries that extend the capabilities of the current standard of care.

Summary of data presentations:

Study	Sample size / indication	Result	Special findings
European consortium (Cochin-Radboud-Lyon-Clermont Ferrand)	85 (constitutional disorders)	100% Concordance	Full detection of multiple highly complex cytogenetic mutations
Radboud Medical Center	20 (genetic mysteries)	25% Additional Yield	Identified causative genetic structural variants
Radboud Medical Center	48 (oncology)	100% Concordance	Many novel fusion genes discovered

In a webinar originally hosted by LabRoots on Friday, June 22, Dr. Laila El Khattabi from the Cochin Hospital in Paris, France discussed how Saphyr improved structural variant detection for constitutional chromosomal aberrations in her research. The data originate from an international multi-center effort between the hospitals of Paris-Cochin, Lyon and Clermont-Ferrand and the Radboud University Medical Center in the Netherlands, as part of the first international consortium to validate Saphyr for constitutional cytogenetic analysis. The consortium compared the performance of Saphyr against the combination of karyotyping, FISH and array-based methods in 85 samples with a variety of constitutional aberrations including deletions, duplications, balanced and unbalanced translocations, inversions, ring chromosomes and aneuploidies in patients with intellectual disabilities and recurrent miscarriages. Saphyr showed 100% concordance with gold standard methods in these 85 samples. Dr. El Khattabi expressed the consortium’s confidence in Saphyr’s potential to largely replace standard cytogenetic testing methods in the future. A manuscript describing the study results will be submitted for publication in the coming weeks.