Retinoblastoma Genetic Screening at Barts Health NHS Trust

The Trust hosts the Barts Health Retinoblastoma Genetic Screening Unit (RGSU) – one of only two genetics centres for retinoblastoma in the UK.

Image courtesy of Barts Health NHS Trust

Retinoblastoma is a rare condition affecting infants and young children, in the form of a malignant tumour which develops in the cells of the retina. About two-thirds of children with retinoblastoma have only one eye affected (unilateral), and one third have both eyes affected (bilateral).

Retinoblastoma occurs in two forms: a genetic, inheritable form, and a non-genetic, non-inheritable form.

The genetics service for patients and their relatives involves molecular testing for a predisposition to retinoblastoma. 

The genetics service is closely aligned to Barts Health clinical service, which is a designated provider of retinoblastoma care in England and Wales.

Information on the care offered by the Unit and processes for accessing services can be found on the Barts website.

Information for professionals

Information and details and guidance about the services of the Retinoblastoma Genetic Screening Unit can be found in a number of documents. The RGSU User Manual sets out the process for genetic counsellors and physicians to submit specimens to the Unit using via RGSU Request Form after obtaining consent from a patient or parent.

The Unit participates in the external quality assessment scheme organised by the European Molecular Genetics Quality Network (EMQN) and is UKAS accredited (United Kingdom Accreditation Service); Laboratory no. 8285. The RGSU is also a member of the UK Genetic Testing Network (UKGTN).