Clinical Indication ID & Name
Other rare neuromuscular disorders
Test Group
Neurology
Specialties
Test code
R381.2
Test name
Neuromuscular disorders WGS (phase 1)
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
R381.4
Test name
Neuromuscular disorders confirmatory STR testing
Target genes
Neuromuscular disorders (465)
Test scope
n/a
Test method/ technology
Confirmatory 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 Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family
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
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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