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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old