Child holding stethoscope

Rett Syndrome Diagnosis

A Rett syndrome (RTT) diagnosis is made by your clinicians. It requires fulfillment of the current diagnostic criteria. The presence of a MECP2 mutation is found in more than 95% of cases.




Criteria for Rett syndrome (RTT) Diagnosis

Consider Genetic Testing

A simple blood test can confirm if your child has the MECP2 mutation which causes Rett syndrome. While you can observe Rett-like behaviors knowing the specifics of your child’s mutation can help you:

  • Confirm clinical diagnosis
  • Learn more about the specific mutation
  • Be eligible for clinical trials and natural history studies
  • Contribute to growing knowledge of MECP2 mutations.
  • Inform you of recurrence risks in future pregnancies

Consider talking to a genetic counselor and/or genetic specialist as part of the testing process. They can explain genes, mutations, recurrence risks, and more. Mutations happen normally and spontaneously. They are not caused by something you did or did not do around the time of pregnancy.

Genetic Testing Centers

Baylor College of Medicine

DNA Diagnostic Testing Laboratory
Houston, TX
P: (713) 798-6555 or (800) 411-4363 (GENE)

Boston University School of Medicine

Center for Human Genetics

Boston, MA
P: (617) 638-7083  

Children’s Hospital Boston

DNA Diagnostic Laboratory
Boston, MA
P: (617) 355-7582


Aliso Viejo, CA
P: (866) 262-7943

Greenwood Genetic Center

Greenwood, SC
P: (864) 941-8100 or (888) 442-4363 (GGC-GENE)

Molecular Diagnostics Laboratory

Wilmington, DE
P: (302) 651-6779/6777

University of Chicago

Genetic Services Laboratories
Chicago, IL
P: (888) 824-3637 or (888) 824-3637 (UC-GENES)


Gaithersburg, MD
P: (301) 519-2100
A FIRST FOR RETT: FDA approves Trofinetide for the treatment of Rett syndrome!
It’s Giving Tuesday - Go ALL IN for Rett!

A FIRST FOR RETT: FDA approves Trofinetide for the treatment of Rett syndrome!