Clinical Indication ID & Name
Childhood onset hereditary spastic paraplegia
Test Group
Neurology
Specialties
Test code
R61.4
Test name
Hereditary spastic paraplegia - child onset WGS (phase 1)
Target genes
Hereditary spastic paraplegia - Childhood onset (568) STR
Test scope
Exon level CNVs, Small variants; STRs
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Testing Criteria
Unexplained spastic paraplegia of likely monogenic aetiology with onset in childhood
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.
Test code
R61.5
Test name
Hereditary spastic paraplegia - child onset confirmatory STR testing
Target genes
Hereditary spastic paraplegia - Childhood onset (568)
Test scope
STRs
Test method/ technology
Confirmatory STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Testing Criteria
Unexplained spastic paraplegia of likely monogenic aetiology with onset in childhood
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.
Commissioning group
Specialised
Overlapping idications
n/a
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
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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