Clinical Indication ID & Name
Other rare neuromuscular disorders
Test Group
Neurology
Specialties
Test code
R381.2
Test name
N/A
Target genes
Neuromuscular disorders (465)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features of rare neuromuscular disorder not covered by more specific indications
Test code
R381.3
Test name
N/A
Target genes
AR; DMPK STR
Test scope
n/a
Test method/ technology
STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features of rare neuromuscular disorder not covered by more specific indications
Commissioning group
Specialised
Overlapping idications
• Targeted tests for specific neuromuscular indications where relevant
Address for samples/request forms
South East GLH
Genetics Specimen Reception
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