Description
Primary congenital glaucoma (PCG; MIM: #231300) is a congenital or infantile onset
condition, characterised by raised intraocular pressure. Signs of this may include
enlargement of the globe (buphthalmos), cloudy/hazy corneas, lacrimation and optic
disc changes. The condition causes irreversible optic nerve damage and blindness if
untreated.
Also known as
PCG
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Additional information
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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
40 days
Disease / group
CYP1B1
Cost
Upon request
Call in advance?
Prenatals must be arranged in advance, through a Clinical Genetics department if possible.