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Facioscapulohumeral Muscular Dystrophy

Test Information

Title
Facioscapulohumeral Muscular Dystrophy
Lab
Category
Neurogenetics
Test Name (CMS Title)
Facioscapulohumeral Muscular Dystrophy
Gene/Platform/Region List
4q35
Test type
Other
Samples Accepted
Peripheral Blood
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Optical Genome Mapping
Methodology Notes
Bionano EnFocus FSHD analysis pipeline
Disease/Condition
Facioscapulohumeral Muscular Dystrophy (FSHD), FSH Muscular Dystrophy, scapulo-humeral syndromes, scapulo-peroneal syndromes, Landouzy-Dejerine muscular dystrophy

Last Updated: December 09, 2025

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