Apert Syndrome


Description

Apert syndrome can be very severe and is easily distinguishable from other craniosynostosis syndromes. Clinical features include: turribrachycephalic skull shape and syndactyly of fingers adn toes. Two mutations in FGFR2, p.Ser252Trp and p.Pro253Arg, account for over 98% of reported cases.


Request a test

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


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

FGFR2


Cost

Upon request


Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


Genetics

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

© 2011 Great Ormond Street Hospital for Children NHS Trust