1004
GTD Indications
Carrier / Cascade Testing
Diagnosis
GTD Samples Accepted
Peripheral Blood
GTD Methodology Notes
Bionano EnFocus FSHD analysis pipeline
GTD Notes
ONLY peripheral blood samples less than 3 days old are accepted.
Generic Test name (cms title)
Facioscapulohumeral Muscular Dystrophy
GTD Test type
Cytogenetic
GTD Location
Children's Hospital of Eastern Ontario
GTD Gene/Platform/Region List
4q35
GTD Category
Neurogenetics
GTD Disease/Condition
Facioscapulohumeral Muscular Dystrophy (FSHD), FSH Muscular Dystrophy, scapulo-humeral syndromes, scapulo-peroneal syndromes, Landouzy-Dejerine muscular dystrophy