Genetic Test Details
Facioscapulohumeral Muscular Dystrophy
Test Information
- Title
-
Facioscapulohumeral Muscular Dystrophy
- Category
- Neurogenetics
- Sub Category
-
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: November 26, 2025