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.

NIPD for Retinoblastoma

Clinical Indication ID & Name

R423

NIPD for Retinoblastoma

Test Group

NIPD

Test code

R423.1

Test name

N/A

Target genes

RB1

Test scope

n/a

Test method/ technology

NIPD

Optimal Family Structure

n/a

Eligibility Criteria

1. Singleton pregnancy at risk of retinoblastoma following discussion with testing laboratory, where either the mother/father/previous child has a confirmed diagnosis of heritable retinoblastoma by genetic testing (ie maternal, paternal or de novo inheritance) AND
2. For paternal or de novo inheritance – DNA is available from both parents (and affected child where appropriate) OR
For maternal inheritance testing, DNA must be available from both parents and a previous child
(affected or unaffected confirmed genetically) and the parents must be non-consanguineous

Commissioning group

Specialised

Overlapping idications

n/a

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

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form