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Gene testing is a powerful tool to assist clinicians in deciding the best approach for managing children and family members who may be predisposed to retinoblastoma.

We accept DNA samples from anywhere in the world, (see conditions below) and offer a fast and cost-competitive service.

Retinoblastoma is the most common intraocular cancer in childhood with an incidence of 1 in 17,500 live births.

The tumour is sometimes diagnosed soon after birth, and 80% are detected by 3 - 4 years of age. Retinoblastoma in its most severe form can lead to enucleation i.e. loss of one or both eyes and therefore blindness.

It is important to be able to predict which family members are at risk from the tumour and to detect them early.

We are currently using “two-dimensional gene scanning” (TDGS)1,2 for mutation detection, which is currently the most cost-effective method available worldwide.

Retinoblastoma is also a good model for understanding genetic mechanisms that lead to tumour growth.

The following conditions apply for gene testing

  • Where the DNA analysis involves scientific collaboration for the purpose of publication into a peer-reviewed journal, DNA analysis will be carried out free of charge.
  • If tumour DNA is made available along with peripheral blood DNA, then the cost of gene testing is US$400.00 per sample. Tumour DNA is currently being used for research but participation requires patient consent. The information sheet explaining the research is available only on request.
  • For clearly heritable cases (see below) where no tumour DNA is available, the cost of gene testing is US$500.00 per sample, and US$75 per additional family member.
  • Once an abnormality is identified, the cost of prenatal testing is US$100 for amniocentesis or US$50 for cord blood.

Indicators of heritable retinoblastoma

  • Family history
  • Bilateral, trilateral or clearly multifocal retinoblastoma
  • Retinoblastoma coupled with osteogenic sarcoma


  • Van Orsouw, NJ, Li, D, van der Vlies, P, Scheffer, H, Eng, C, Buys, CH, Li, FP, Vijg, J (1996) Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene. Hum Mol Genet 5:755-761
  • Dhanda RK. van Orsouw NJ. Sigalas I. Eng C. Vijg J. (1998) Critical factors in the performance and cost of two-dimensional gene scanning: RB1 as a model. Biotechniques. 25:664-8

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