Results of first tests on NGS panel at  UCT

Congratulations to Professor Ramesar and his team of  gene hunters at the University of Cape Town. The first results of their newly established Diagnostic panel to identify gene mutations in South African patients with retinal conditions are amazing. Of the 12 patients tested a complete result, 2 mutations were found in 8 patients- a  credible 67% success rate. This compares very favourably with international panels and at less than half the cost. 

The panel is a state of the art Next Generation Sequencing panel and the team picked  108 genes that have been associated with Inherited Retinal  Degeneration in SA. 

Good news is that the number of genes has now been increased to 116. The 2nd group of patients has already been identified and testing will begin soon. 

How can you be tested? 

  1. You need to be a member of Retina South Africa
  2. You need a clinical diagnosis of your retinal condition from an Ophthalmologist
  3. You need to contact Retina South Africa to organise an appointment with a  Genetic Counsellor.
  4. Discuss costs and funding opportunities for the test- R12 000, with Retina SA.  
  5. Call the national office at 0114501181 for more information. 
Professor Ramesar and Lisa Roberts from UCT

Professor Ramesar and Lisa Roberts from UCT

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