Dermatological disorders


Description

Inherited conditions affecting the skin are a diverse group of genetically heterogeneous disorders. Inheritance may be autosomal dominant, recessive, or X-linked, and mosaic dermatological conditions are increasingly recognised. Where conditions are highly heterogeneous a panel of known causative genes are tested to maximise clinical sensitivity and minimise time to diagnosis.


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

Various sub-panels


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