Facioscapulohumeral muscular dystrophy (FSHD), one of the most common forms of progressive muscular dystrophies and is often conventionally diagnosed by Southern blot analysis. The accurate detection involves the identification of the D4Z4 microsatellite repeat contractions. High-throughput optical mapping of those repeats using the Bionano Saphyr® genome imaging platform provides multiple advantages and aids in the proper detection of the repeat contractions to improve molecular detection of FSHD. In addition to the repeat size and haplotype information, it gives a high resolution view of the repeat regions and has a higher sensitivity to mosaic alleles. The PerkinElmer Genomics laboratory recently analyzed known publicly available FSHD cell lines, clinical specimens, and control samples using the Saphyr platform and recently launched Bionano EnFocusTM FSHD analysis tool, and found expected repeat contractions in the FSHD-positive samples. Accuracy and precision studies demonstrate the robustness of this platform.
 
For Research Use Only. Not for use in diagnostic procedures.