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
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
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form