Angelman Syndrome


Description

Angelman syndrome is characterized by severe motor and intellectual retardation, seizures associated with characteristic EEG traces, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation (39%), absence of speech, characteristic face shape, and episodes of paroxysmal laughter. The AS phenotype results from the lack of a maternal contribution at chromosome 15q11-q13.

Also known as

AS


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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

20 days


Disease / group

15q11-q13 (Angelman 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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