Ciliopathies


Description

The ciliopathies are a heterogeneous group of conditions with considerable phenotypic overlap. These inherited diseases are caused by defects in cilia; hair-like projections present on most cells, with roles in key human developmental processes via their motility and signalling functions. Ciliopathies are often lethal and multiple organ systems are affected.


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

Next generation sequencing with various sub-panels. 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

80 days


Disease / group

Next generation sequencing panel of 125 genes


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