Clinical Indication ID & Name
Early onset or syndromic epilepsy
Test Group
Neurology
Specialties
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
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 DiscussionConsent 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.