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.

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.

In some areas, instead of sending your child’s sample for a specific Rett syndrome test, whole genome sequencing will be done instead. This means that they can look for more conditions besides Rett syndrome.

This kind of testing can sometimes take longer as it is fairly new to the NHS. Once your doctor receives the results, they will usually let you know by bringing you in for an appointment to discuss face to face.

Sometimes parents receive this information over the phone, which can be difficult. If you need to speak to someone about your results, please contact us. It’s important to obtain a copy of the test results which we can then go through with you as needed.

You don’t have to face this alone

The majority of our team at Reverse Rett have family members with Rett or other serious medical conditions and/or have many years of experience working with families of children and adults with disabilities and complex health needs. We welcome your call at any time.