Apert Syndrome


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.

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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

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



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.

© 2011 Great Ormond Street Hospital for Children NHS Trust