Order or find a test

Please continue to use the test directory below. The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Synnovis strike action: see news page for more details https://southeastgenomics.nhs.uk/synnovis-industrial-strike-action-16th-dec-20th-dec-inclusive/

Clinical Indication ID & Name

R56

Adult onset dystonia, chorea or related movement disorder

Test Group

Neurology

Test code

R56.2

Test name

N/A

Target genes

Adult onset movement disorder (540) 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 adulthood with a likely monogenic cause

Test code

R56.3

Test name

N/A

Target genes

Adult onset movement disorder (540)

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 adulthood with a likely monogenic cause

Commissioning group

Specialised

Overlapping idications

• R68 Huntington disease test should be used where clinical features indicate a likely diagnosis of Huntington disease • R89 Ultra-rare and atypical monogenic disorders or other relevant broader tests should be used in individuals with complex or syndromic presentations

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

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/

Consent record

See consent guidance in test request form

Sample requirements

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