Iowa Experience with Optical Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD)

Dr. Aaron Bossler, Director of the Molecular Pathology Lab at the University of Iowa, the largest testing site in the US for Facioscapulohumeral Muscular Dystrophy (FSHD) presents on an assay they developed for FSHD testing on Saphyr that they have implemented in their clinic, replacing a test based southern blot technology. Dr Bossler summarizes that in comparison with southern blot, the Saphyr-based assay they developed provides results for half the cost, in half the time, requires much less sample and much less technician hands-on time, and has better quality control while removing the use of radioactive labeling.