Evolution of r(20) syndrome diagnosis

We surveyed over 100 of our member families across the world to ask “In which year did you receive your r(20) diagnosis?”. The results are striking as they show:

The number of r(20) syndrome diagnoses in the last 10 years is in decline.

This is despite advances in genetic testing that have typically resulted in a significant increase in the number of diagnoses of many rare diseases. Our findings are worrying and that is one of the reasons why Ring20 are partnering with Illumina to try to find ways to reverse this trend.

Take a closer look by clicking on the infographic below to see our results…

In our upcoming posts we’ll explain more about the ways in which doctors test for genetic causes of epilepsy today and why we believe this is contributing to the problem.

Evolution of genetic testing_updated

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