Rett syndrome


Rett syndrome (MIM 312750) is an X-linked dominant neurodevelopmental condition caused by mutations in the methyl-CpG-binding-protein 2 (MECP2) gene on Xq28 which contains 4 exons. 8 common mutations account for around 45% of cases of RTT. Large deletions of MECP2 account for around 38% of classical and 7.5% of atypical RTT where no mutation is identified by sequencing. MECP2 mutations have also been reported in individuals with autism, Angelman-like syndrome and nonspecific mental retardation.

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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

Additional information

For additional information please click on the link

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

40 days

Disease / group



Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

© 2011 Great Ormond Street Hospital for Children NHS Trust