Bionano Optical Genome Mapping and Southern Blot Analysis for FSHD Detection

Dr. Jeroen Depreeuw, KU Leuven Hospital, Belgium, discusses their work validating the assay they are developing for FSHD testing. Preliminary results show that OGM with Saphyr is concordant with the gold standard southern blot, and for samples where the standard test was uninformative, Saphyr data provided unambiguous results. The team hopes to finish developing their assay for FSHD testing on Saphyr and implement it for use in their clinic this spring.