Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Hereditary ataxia with onset in adulthood

Clinical Indication ID & Name

R54

Hereditary ataxia with onset in adulthood

Test Group

Neurology

Specialties

Clinical Genetics Neurology

Test code

R54.2

Test name

N/A

Target genes

Hereditary ataxia - adult onset (466) STR

Test scope

n/a

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

Test code

R54.3

Test name

N/A

Target genes

Hereditary ataxia - adult onset (466)

Test scope

n/a

Test method/ technology

WGS

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

R53 Fragile X – if clinical features are suggestive of Fragile X ataxia then this test should also be requested.

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD WGS request form

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form