Pfieffer Syndrome


Description

Pfeiffer syndrome can be subdivided into three clinical subtypes, with types two and three being more common. In addition to recurrent mutations in FGFR2 and the p.Pro250Arg mutation in FGFR3, the p.Pro252Arg mutation in FGFR1 has been reported in patients with Pfeiffer syndrome type 1


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

For additional information please click on the link Download additional information >


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

FGFR1, 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