Angelman Syndrome


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


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Additional information

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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

20 days

Disease / group

15q11-q13 (Angelman Syndrome)


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.

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