Clinical Indication ID & Name
Facioscapulohumeral muscular dystrophy
Test Group
Neurology
Specialties
Test code
R74.1
Test name
N/A
Target genes
DUX4
Test scope
n/a
Test method/ technology
Other
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly suggestive of facioscapulohumeral muscular dystrophy (FSHD) in whom a DUX4 contraction has not been excluded
Commissioning group
Specialised
Overlapping idications
• R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies and broader tests such as R89 Ultra-rare and atypical monogenic disorders should be considered where features are atypical • R345 Facioscapulohumeral muscular dystrophy (FSHD) extended testing should be considered in cases negative for the test where clinical features are strongly suggestive of FSHD • R381 Other rare neuromuscular disorders should be used where clinical features are atypical and a broader range of genes are potentially causative
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form