Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD)

The molecular diagnosis of FSHD relies on detecting contractions of the unique D4Z4 repeat array at the chromosome 4q35 locus in the presence of a permissive 4q35A haplotype. Long, intact DNA molecules are required for accurate sizing of D4Z4 repeats. We validated the use of optical genome mapping to determine size and haplotype of D4Z4 alleles for FSHD analysis. The cohort included 36 unique DNA specimens from fresh blood samples or archived agarose plugs. High-molecular weight DNA underwent sequence-specific labeling followed by separation and image analysis with data collection on the Saphyr system (Bionano Genomics, San Diego, CA).

Source: Journal of Molecular Diagnostics - August 9, 2021 Category: Pathology Authors: Aaron A. Stence, Jon G. Thomason, Jonathan A. Pruessner, Ramakrishna R. Sompallae, Anthony N. Snow, Deqin Ma, Steven A. Moore, Aaron D. Bossler Tags: Regular Article Source Type: research