Occular conditions gene panel (Occulome)


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


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

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

80 days

Disease / group

Various sub-panels


Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

© 2011 Great Ormond Street Hospital for Children NHS Trust