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
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
40 days
Disease / group
CYP1B1
Cost
Upon request
Call in advance?
Prenatals must be arranged in advance, through a Clinical Genetics department if possible.