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.

Clinical Indication ID & Name

R36

Structural eye disease

Test Group

Ophthalmology

Specialties

Clinical Genetics Ophthalmology

Test code

R36.2

Test name

N/A

Target genes

Structural eye disease (509)

Test scope

n/a

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

1. Microphthalmia or anophthalmia or uveoretinal coloboma where there is evidence to support a likely monogenic cause, for example bilateral disease, consanguinity or additional ocular and non-ocular features, OR
2. Unilateral or bilateral congenital / developmental glaucoma, OR
3. Bilateral developmental glaucoma or anterior segment malformation, except where there is evidence of a non-genetic cause, OR
4. Aniridia with family history

Commissioning group

Specialised

Overlapping idications

• R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations • R38 Sporadic aniridia test should be used instead for sporadic classical aniridia

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

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form

Request / Find a Test Tool