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


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
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