Genetic Test Details

Facioscapulohumeral Muscular Dystrophy

Test Information

Titre
Facioscapulohumeral Muscular Dystrophy
Catégorie
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

Dernière Mise à Jour: 18 juin 2025