Testing Criteria
1. Singleton pregnancy at risk of retinoblastoma following discussion with testing laboratory, where either parent or their 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)

Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.

Requests should be discussed in advance with the testing laboratory to ensure that necessary samples and validation work has been performed.

Testing is not possible in multiple pregnancies.
Where in Pathway
Testing performed after 8 weeks in pregnancy as confirmed by dating scan. N.B. If testing is to be performed using a bespoke NIPD assay, pre-pregnancy work up (R389) is required to enable confirmation that NIPD is possible and to allow timely delivery in pregnancy.