Clinical Indication ID & Name
Duchenne or Becker muscular dystrophy
Test Group
Neurology
Specialties
Test code
R73.1
Test name
N/A
Target genes
DMD
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
1. Individuals with clinical features strongly suggestive of Duchenne or Becker muscular dystrophy AND elevated creatine kinase
2. Testing a female family member of an affected male known to have or likely to have had Duchenne or Becker muscular dystrophy, but without confirmed molecular diagnosis.
Test code
R73.2
Test name
N/A
Target genes
DMD
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Individuals with clinical features strongly suggestive of Duchenne or Becker muscular dystrophy AND elevated creatine kinase
2. Testing a female family member of an affected male known to have or likely to have had Duchenne or Becker muscular dystrophy, but without confirmed molecular diagnosis.
Commissioning group
Specialised
Overlapping idications
• R79 Congenital muscular dystrophy test should be considered following discussion with Neuromuscular specialist in atypical cases • 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
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form