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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
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
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