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
Autre
Samples Accepted
Peripheral Blood
Indications
Diagnostics, 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

Dernière Mise à Jour: 05 septembre 2025