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
Genetics Laboratory
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