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

Specialties

Clinical Genetics Metabolic Medicine Neurology

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

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

Rare Disease Order Form Record of Discussion Form

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