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Bionano EnFocus™
FSHD analysis

Facioscapulohumeral Muscular Dystrophy (FSHD) is typically caused by a contraction of the D4Z4 repeat array on chromosome 4 (chr 4). Measuring the length of the repeat array accurately is critical but only possible with labor-intensive Southern Blots using radioactive labeling. Bionano EnFocus™ FSHD analysis is a simple workflow based on optical genome mapping and enables accurate measurement of the D4Z4 array on chr 4 in just 3 days.

Replace outdated Southern Blots with Bionano

Bionano EnFocus FSHD analysis is a streamlined reliable molecular method to measure the number of D4Z4 repeats. It has 100% concordance to Southern blot for D4Z4 repeat array measurement in cell lines from FSHD positive individuals. In addition, it differentiates between permissive 4qA and non-permissive 4qB haplotypes and distinguishes the D4Z4 array present on chr4 from the partially homologous D4Z4 array present on chr10.


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