Automatic detection with perfect concordance
Facioscapulohumeral Muscular Dystrophy (FSHD) is a common form of muscular dystrophy with an extremely complex genotype. A molecular detection requires the accurate sizing of a very large repeat region in the subtelomeric region of chr 4, a correct determining of the pathogenic vs non-pathogenic allele, and the distinction between the chromosome 4 repeat and an almost identical repeat on chr 10 not related to the disease. Molecular methods fail to do so, and hence a cumbersome, imprecise Southern Blot is currently used to molecularly diagnose this disease. The Bionano EnFocus FSHD Analysis performs the entire detection automatically, and validation studies have shown perfect concordance with the gold standard method.