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Order or find a test

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

Clinical Indication ID & Name

R66

Paroxysmal central nervous system disorders

Test Group

Neurology

Specialties

Clinical Genetics Neurology

Test code

R66.1

Test name

Paroxysmal central nervous system disorders

Target genes

Paroxysmal central nervous system disorders (541)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Paroxysmal central nervous system disorder that is likely to be monogenic in aetiology

Test code

R66.2

Test name

N/A

Target genes

Paroxysmal central nervous system disorders (541)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Paroxysmal central nervous system disorder that is likely to be monogenic in aetiology

Commissioning group

Specialised

Overlapping idications

• R56 Adult onset dystonia, chorea or related movement disorder or R57 Childhood onset dystonia, chorea or related movement disorder tests should be used in individuals with dystonia • 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/

Request form download

Rare Disease Order Form Record of Discussion Form

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 Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.