Facioscapulohumeral Muscular Dystrophy

Test Information

Title
Facioscapulohumeral Muscular Dystrophy
Lab
Category
Neurogenetics
Test Name (CMS Title)
Facioscapulohumeral Muscular Dystrophy
Gene/Platform/Region List
4q35
Test type
Other
Samples Accepted
Peripheral Blood
Indications
Diagnosis, 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

Last Updated: November 14, 2025

The information on this website is intended for informational purposes only and is not a substitute for medical advice. Always consult your health care provider if you have questions or concerns. The use of the information on this website does not create a physician-patient relationship between Ontario Health and you.
Ontario Health is committed to ensuring accessible services and communications to individuals with disabilities. To receive any information on this website in an alternate format, please contact Ontario Health’s Communications Department at: 1-877-280-8538,TTY 1-800-855-0511, or by email at info@ontariohealth.ca.

The province of Ontario Logo
© Ontario Health 2025