Facioscapulohumeral Muscular Dystrophy
| Test Information | |
|---|---|
| Test Name | Facioscapulohumeral Muscular Dystrophy |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Neurogenetics |
| Subcategory | Facioscapulohumeral Muscular Dystrophy |
| Gene/Platform/Region List | 4q35 |
| Test type | Cytogenetic |
| Samples Accepted | Peripheral Blood |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Optical Genome Mapping |
| Methodology Notes | Bionano EnFocus FSHD analysis pipeline |
| Diseases/Conditions | Facioscapulohumeral Muscular Dystrophy (FSHD), FSH Muscular Dystrophy, scapulo-humeral syndromes, scapulo-peroneal syndromes, Landouzy-Dejerine muscular dystrophy |
| Notes | Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. Only peripheral blood samples less than 3 days old at room temperature OR within 5 days of collection and stored/shipped at approximately 4 degrees Celsius accepted. |