Clinical Indication ID & Name
Facioscapulohumeral muscular dystrophy - extended testing
Test Group
Neurology
Specialties
Test code
R345.1
Test name
N/A
Target genes
DUX4
Test scope
n/a
Test method/ technology
Methylation testing
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly suggestive of facioscapulohumeral muscular dystrophy (FSHD) in whom a DUX4 contraction has been excluded
Test code
R345.2
Test name
N/A
Target genes
SMCHD1
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly suggestive of facioscapulohumeral muscular dystrophy (FSHD) in whom a DUX4 contraction has been excluded
Test code
R345.3
Test name
N/A
Target genes
4q
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 been excluded
Commissioning group
Specialised
Overlapping idications
• R74 Facioscapulohumeral muscular dystrophy test should be used where DUX4 contraction has not been excluded • R82 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies and broader tests such as R381 Other rare neuromuscular disorders should be considered where features are atypical
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
Rare Disese WGS Clinician pack
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