Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Early onset or syndromic epilepsy

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD WGS request form RD WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form