Clinical Indication ID & Name
Retinoblastoma
Test Group
Inherited cancer
Specialties
Test code
R219.1
Test name
N/A
Target genes
RB1
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Testing of phenotypically affected individual where the proband has Retinoblastoma (unilateral, bilateral or multifocal) +/- family history. RB1 somatic test can be undertaken instead in tumour material where indicated
Testing in most patients will be arranged as part of management at one of the Highly Specialised
Retinoblastoma Services
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present.
Test code
R219.2
Test name
N/A
Target genes
RB1
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Testing of phenotypically affected individual where the proband has Retinoblastoma (unilateral, bilateral or multifocal) +/- family history. RB1 somatic test can be undertaken instead in tumour material where indicated
Testing in most patients will be arranged as part of management at one of the Highly Specialised
Retinoblastoma Services
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present.
Commissioning group
Specialised
Overlapping idications
• M166 Retinoblastoma (paediatric) or the relevant cancer clinical indication (M coded) should be used for somatic testing
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
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form