Retinoblastoma (Rb) is a malignant intraocular tumour occurring predominantly in children under 5 years. The incidence of this disease is 1 in 15,000-25,000. Approximately 35 to 45% of all Rb cases are heritable as defined by a family history and/or the presence of bilateral or multifocal tumours. In familial cases, the disease is autosomal dominant with high penetrance (90%). The remainder usually present as unilateral solitary tumours, with approximately 15% of these unilateral cases having a germline mutation. The gene for retinoblastoma (RB1) is localised at 13q14.

Referral information

Mutation screening in the blood of index cases with a family history or bilateral Rb. Mutation screening in tumours from cases of sporadic unilateral Rb. Pre-symptomatic testing of relatives of an index case with a previously identified RB1 mutation. Prenatal diagnosis where a germline mutation has been identified in a parent.. Linkage analysis for families at risk in whom no mutations have been identified.

Price & reporting times

This service is funded by the National Commissioning Group for NHS referrals for patients from England. In other cases please contact the lab for prices.

Test Price (£ ex VAT) TRT
Mutation scanning POA 52 days
Single mutation test POA 14 days
Prenatal diagnosis POA 3 days
Urgent/Predictive single mutation screen POA 10 days

Test validation & quality assurance - information for users

In our series NGS sequence analysis and deletion/duplication analysis detects >90% of germline mutations in patients with bilateral RB. The laboratory is UKAS assessed against ISO 15189 standards.

Sample requirements

Pre-natal: amniotic fluid (minimum 15ml)/chorionic villus biopsy (CVB) (minimum 10mg) sample plus 4ml EDTA maternal blood sample

Post-natal: 4ml EDTA blood sample, fresh retinoblastoma tissue samples

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 180200

Gene(s) - RB1