Rett Syndrome Diagnosis

Child holding stethoscopeRett syndrome is confirmed with a blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, a Rett syndrome (RTT) diagnosis requires either the presence of the MECP2 mutation or fulfillment of the diagnostic criteria or both.

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.

DNA Diagnostic Testing Laboratory

Baylor College of Medicine
Houston, TX
P: (713)  798-6555 or (800) 411-4363 (GENE)

Center for Human Genetics

Boston University School of Medicine
Boston, MA
P: (617) 638-7083

Children’s Hospital Boston

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

University of Chicago

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

Ambry Genetics

15 Argonaut
Aliso Viejo, CA 92656
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


207 Gaithersburg, MD 20877
P: (301) 519-2100