Clinical Indication ID & Name
Adult onset dystonia, chorea or related movement disorder
Test Group
Neurology
Specialties
Test code
R56.2
Test name
N/A
Target genes
Adult onset movement disorder (540) STR
Test scope
n/a
Test method/ technology
STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained dystonia, chorea or related movement disorder with onset in adulthood with a likely monogenic cause
Test code
R56.3
Test name
N/A
Target genes
Adult onset movement disorder (540)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained dystonia, chorea or related movement disorder with onset in adulthood with a likely monogenic cause
Commissioning group
Specialised
Overlapping idications
• R68 Huntington disease test should be used where clinical features indicate a likely diagnosis of Huntington disease • R89 Ultra-rare and atypical monogenic disorders or other relevant broader tests should be used in individuals with complex or syndromic presentations
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