Clinical Indication ID & Name
Adult onset hereditary spastic paraplegia
Test Group
Neurology
Specialties
Test code
R60.2
Test name
N/A
Target genes
Hereditary spastic paraplegia - adult onset (567) STR
Test scope
n/a
Test method/ technology
STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained spastic paraplegia of likely monogenic aetiology with onset in adulthood
STR testing of spinocerebellar ataxia loci will be included as a component test where spinocerebellar ataxia is considered plausible clinically.
Test code
R60.3
Test name
N/A
Target genes
Hereditary spastic paraplegia - adult onset (567)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained spastic paraplegia of likely monogenic aetiology with onset in adulthood
STR testing of spinocerebellar ataxia loci will be included as a component test where spinocerebellar ataxia is considered plausible clinically.
Commissioning group
Specialised
Overlapping idications
n/a
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
Rare Disese WGS Clinician pack
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