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

R59

Early onset or syndromic epilepsy

Test Group

Neurology

Test code

R59.2

Test name

Early onset or syndromic epilepsy

Target genes

Genomewide

Test scope

n/a

Test method/ technology

N/A

Optimal Family Structure

n/a

Eligibility Criteria

This test is no longer commissioned by NHS England. This means it is not available to order.

Test code

R59.3

Test name

N/A

Target genes

Epilepsy - early onset or syndromic (402)

Test scope

n/a

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Unexplained epilepsy with clinical suspicion of a monogenic cause including:
1. Onset under 2 years, OR
2. Clinical features suggestive of specific genetic epilepsy, for example Dravet syndrome, OR
3. Additional clinical features: intellectual disability, autism spectrum disorder, structural abnormality (e.g. dysmorphism, congenital malformation), unexplained cognitive/memory decline

Testing may occasionally be appropriate where age of onset is between 2 and 3 years and following clinical agreement by a specialist MDT.
It is not a requirement to perform microarray testing in addition to WGS but microarray testing can be performed where appropriate

Commissioning group

Specialised

Overlapping idications

• R110 Segmental overgrowth disorders – Deep sequencing test should be used where megalencephaly is present to allow detection of somatic mosaic variants NOTE: If a metabolic disorder is suspected, testing should be carried out either using R89 or R98 or under an alternative metabolic-related clinical indication

Address for samples/request forms

South East GLH
Genetics Specimen Reception
5th floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gstt.viapathgeneticsadmin@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

Form not available, please contact us to enquire.

WGS Record of Discussion

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: 1. Peripheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (1-7µg 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). 2. Bone marrow sample in EDTA tube, cell count must be provided. 3. Cultured Fibroblasts in medium 4. Fresh tissue with at least 30% tumour cell content: Adequate sample sizes include 5mm x 5mm x 2mm tissue or 15mm x 2mm needle core biopsy. Multiple biopsies recommended if clinically feasible. Tissue should be embedded in OCT or preserved in RNA Later where appropriate 5. Extracted DNA , 1 μg to 7.2 μg depending on WGS pathway. Storage, sample packing and transportation: Blood and bone marrow samples should be stored at 4°C whenever possible and sent at room temperature via first-class post or courier. Tissue samples preserved in RNA Later can be shipped at room temperature, while fresh tissue samples must be shipped on ice/dry ice. All samples should arrive at the laboratory within 24 hours of collection. 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.