Beckwith Wiedemann Syndrome


Description

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


Request a test

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


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

5mls EDTA Blood


Reference range

Not applicable


Turnaround time

20 days


Disease / group

11p15.5 (Beckwith Wiedemann Syndrome)


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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