Largest North American Site for FSHD Muscular Dystrophy Testing Adopts Bionano Genomics’ Saphyr for Majority of Clinical Tests
Bionano Genomics, Inc. (BNGO)
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Source: GlobeNewswire
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
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