Clinical Indication ID & Name
Myotonic dystrophy type 1
Test Group
Core
Specialties
Test code
R72.1
Test name
N/A
Target genes
DMPK STR
Test scope
n/a
Test method/ technology
STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly suggestive of myotonic dystrophy type 1
Commissioning group
Core
Overlapping idications
• R69 Hypotonic infant with a likely central cause test should be used in floppy babies where the clinical picture is suggestive of a central cause • R381 Other rare neuromuscular disorders should be used where clinical features are atypical and a broader range of genes are potentially causative • R410 Myotonic dystrophy type 2 should be used where there is clinical suspicion of myotonic dystrophy type 2 or where myotonic dystrophy type 1 has been excluded
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