Ring Chromosomes: Diagnostic Testing

Want to know how a ring chromosome can be diagnosed? In this slideshow we explain the testing techniques that can be used to identify a ring chromosome. We will also briefly introduce you to what your test result might look like…

Why are we taking the time to explain this?

  • For those already diagnosed: understanding HOW you were diagnosed and what your test result CAN and CAN’T tell you and your medical team about your r(20), helps us to begin to explain the challenges for doctors and researchers on how to find effective treatments. 
  • For those not yet diagnosed:  understanding that the newer testing techniques that are typically used to diagnose genetic forms of epilepsy today, WILL NOT diagnose a ring chromosome, helps to explain why we suspect more people remain undiagnosed or even misdiagnosed for the cause of their epilepsy and why r(20) syndrome may not be as rare as is reported today.

We will explain more about the newer genetic testing techniques and why they are preferred by doctors as first-line tests for diagnosis of the causes of epilepsy in our next slideshow. We also have a unique tool that will help you to interpret your karyotype test result and we have a blog to share on why correct diagnosis matters…all coming soon.

As we UNRAVEL the mysteries of r(20), Ring20 are leading you on a journey explaining why we are working with partners to try to make r(20) easier to diagnose and how we hope this will help to identify new clues to solving the mysteries of finding effective treatments for the future.

We hope that you are enjoying our UNRAVEL educational series and that you are finding the information useful. If you have any feedback for us or have any questions, simply click on the Got a question? link on the right of your screen to get in touch.

Click on the Next button after each slide below to find out more about chromosome testing…

More in this series:


We’ll explain a little more about FISH as a useful testing technique, then we’ll give you some Information about the history of r(20) diagnosis, both from the medical literature and our own member experiences.

Ring chromosome_no deletion

Got a question?

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