Diagnosis & Genetic Testing

If your child has just been diagnosed with Rett Syndrome or your doctor has recommended testing for Rett, you may have many questions. Find out more about how the condition is diagnosed and the answers to some common questions here.

Diagnosing the disorder

Diagnosing Rett Syndrome is still a clinical process despite the genetic testing which is now available. This means that a doctor, geneticist or psychologist will speak to you, observe your child then make a clinical diagnosis based on the symptoms which are present. A clinical diagnosis is usually followed up with genetic testing to check for mutations on the MECP2 gene. Sometimes the diagnosis is made through observation of symptoms and confirmed by the genetic test and sometimes the testing happens first, especially in very young children who are not yet showing clear signs of the condition.

Genetic testing

The genetic test for Rett Syndrome is called an MECP2 screening or sequence analysis. The test looks for mutations or changes in the gene that causes Rett. Doctors will usually test for an MECP2 mutation through taking a blood sample which is then sent to one of four UK labs in Cardiff, Liverpool, Birmingham or Salisbury. The test usually takes around six weeks after which you’ll receive the results. Sometimes, parents receive this information over the phone, which can be stressful, so if you need to speak to someone about your results, please do contact us. Also, it isn’t always clear what the information means, which is why it’s important to obtain a copy of the test results.

Researching Rett

A cure for Rett is possible. We fund research and forge connections between scientists, doctors and those affected by Rett to make a cure a reality.