Clinical Indication ID & Name
NIPD for Retinoblastoma
Test Group
NIPD
Specialties
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
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