Diagnosis and Genetic Testing

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

Diagnosing the disorder

Diagnosing Rett Syndrome is still a clinical process despite the availability of genetic testing. This means that a doctor, geneticist, or psychologist will speak to you, observe your child, then make a clinical diagnosis based on the presented symptoms.

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.

Download diagnosis questions PDF (4 pages)

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 Syndrome. 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 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 Syndrome

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

Our research