Facioscapulohumeral Muscular Dystrophy

Test Information
Test Name Facioscapulohumeral Muscular Dystrophy
Lab (Location) Children's Hospital of Eastern Ontario
Category Neurogenetics
Subcategory Facioscapulohumeral Muscular Dystrophy
Gene/Platform/Region List 4q35
Test type Other
Samples Accepted Peripheral Blood
Indications Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology Optical Genome Mapping
Methodology Notes Bionano EnFocus FSHD analysis pipeline
Diseases/Conditions Facioscapulohumeral Muscular Dystrophy (FSHD), FSH Muscular Dystrophy, scapulo-humeral syndromes, scapulo-peroneal syndromes, Landouzy-Dejerine muscular dystrophy