Rett syndrome


Description

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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Additional information

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Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

40 days


Disease / group

MECP2


Cost

Upon request


Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis


Genetics

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

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