FHSD diagnostic molecular biology analyzer EnFocus™

Repeat expansion disorders such as fragile X syndrome (FXS) and repeat contraction disorders such as facioscapulohumeral muscular dystrophy (FSHD) are typically caused by expansions or contractions in DNA repeats. Accurate measurement of the repeat region is essential but can be challenging and often requires PCR and Southern blot for accurate detection. PCR is accurate and fast but cannot size longer repeats. Southern blots use radioactive labeling, are labor intensive, and are inaccurate for repeat counts. Bionano EnFocus analysis can overcome these limitations by providing a single analysis and simple workflow using optical genome mapping (OGM) data that automates and enables accurate measurement of the repeat array size in as few as 3 days. Achieve very high concordance for repeat detection compared with Southern blot and PCR.1 Bionano EnFocus analysis is a highly accurate, reliable, and streamlined molecular analysis workflow to measure the number of DNA repeats being investigated. Simplify the Biological Complexity of FSHD Detection Fascioscapulohumeral Muscular Dystrophy (FSHD) is a common form of muscular dystrophy with an extremely complex phenotype. Molecular detection requires the accurate sizing of a very large repeat region in the subtelomeric region of chromosome 4, a correct determination of the pathogenic vs. non-pathogenic allele, and the distinction between the chromosome 4 repeat and an almost identical repeat on chromosome 10 not related to the disease.