Beckwith Wiedemann Syndrome


BWS is a complex, multigenic disorder caused by alterations in growth regulatory genes on chromosome 11p15. Approximately 85% of BWS cases are sporadic and are mainly caused by epigenetic alterations in one of the two imprinting control regions on chromosome 11p15 (ICR1 and ICR2)

Also known as

BWS, Exomphalos-Macroglossia-Gigantism Syndrome, EMGS

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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

Laboratory service


Sample requirements

5mls EDTA Blood

Reference range

Not applicable

Turnaround time

20 days

Disease / group

11p15.5 (Beckwith Wiedemann Syndrome)


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


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

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