Clinical Indication ID & Name
Hereditary ataxia with onset in adulthood
Test Group
Neurology
Specialties
Test code
R54.3
Test name
Hereditary ataxia - adult onset WGS (phase 1)
Target genes
Hereditary ataxia - adult onset (466) STR
Test scope
Exon level CNVs, Small variants, STRs
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained ataxia with onset in adulthood including where differential diagnosis encompasses STR loci
Test code
R54.4
Test name
RFC1 STR
Target genes
RFC1 STR
Test scope
STRs
Test method/ technology
STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained ataxia with onset in adulthood including where differential diagnosis encompasses STR loci
Associated Tests
Please note R54.4 (RFC1 STR) will not be included unless specifically requested
Test code
R54.5
Test name
Hereditary ataxia adult onset confirmatory STR testing
Target genes
Hereditary ataxia - adult onset (466)
Test scope
STRs
Test method/ technology
Confirmatory STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained ataxia with onset in adulthood including where differential diagnosis encompasses STR loci
Commissioning group
Specialised
Overlapping idications
n/a
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
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