Clinical Indication ID & Name
Early onset or syndromic epilepsy
Test Group
Neurology
Specialties
Test code
R59.2
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
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.
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.
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 mutations 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
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