Clinical Indication ID & Name
Childhood onset dystonia, chorea or related movement disorder
Test Group
Neurology
Specialties
Test code
R57.3
Test name
N/A
Target genes
Childhood onset dystonia or chorea or related movement disorder (847) 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 childhood with a likely monogenic cause
Test code
R57.5
Test name
N/A
Target genes
Childhood onset dystonia or chorea or related movement disorder (847)
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 childhood with a likely monogenic cause
Commissioning group
Specialised
Overlapping idications
• R61 Childhood onset hereditary spastic paraplegia – if the patient has spastic paraplegia • R55 Hereditary ataxia with onset in childhood – if the patient has ataxia • R27 Congenital malformation and dysmorphism syndromes – likely monogenic, • R29 Intellectual disability – microarray, fragile X and sequencing, • R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with complex or syndromic presentations
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