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
- Carrier Cascade Testing , Diagnosis
- 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: June 23, 2025