North American site for FSHD Muscular Dystrophy testing adopts Bionano's Saphyr

Bionano Genomics announced that the University of Iowa Hospitals and Clinics will switch their method of clinical molecular testing for patients with presumed Facioscapulohumeral Muscular Dystrophy 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. 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.