Congenital eye disorders exome panel


Description

Ocular conditions are highly heterogeneous and show considerable phenotypic overlap. Many congenital eye disorders causing visual impairment or blindness at birth or progressive visual impairment also include syndromic conditions involving additional metabolic, developmental, physical or sensory abnormalities. Gene panels offer the enhanced probability of diagnosis as a very large number of genes can be interrogated.

Also known as

Oculome, ocular


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

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

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