Clinical Indication ID & Name
Skeletal muscle channelopathy
Test Group
Neurology
Specialties
Test code
R76.1
Test name
N/A
Target genes
Skeletal muscle channelopathy (542)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly suggestive of a skeletal muscle channelopathy including myotonia congenita or paramyotonia congenita
Test code
R76.2
Test name
N/A
Target genes
Skeletal muscle channelopathy (542)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly suggestive of a skeletal muscle channelopathy including myotonia congenita or paramyotonia congenita
Commissioning group
Highly Specialised
Overlapping idications
• R89 Ultra-rare and atypical monogenic disorders should be used where features are atypical • 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