Clinical Indication ID & Name
Linkage testing for Duchenne or Becker muscular dystrophy
Test Group
Neurology
Specialties
Test code
R378.1
Test name
N/A
Target genes
Dystrophin
Test scope
n/a
Test method/ technology
Other
Optimal Family Structure
n/a
Eligibility Criteria
Families with a confirmed diagnosis of Duchenne or Becker muscular dystrophy with no detectable mutation in dystrophin who require linkage testing to guide management or advice
Commissioning group
Specialised
Overlapping idications
n/a
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