Clinical Indication ID & Name
Structural eye disease
Test Group
Ophthalmology
Specialties
Test code
R36.2
Test name
N/A
Target genes
Structural eye disease (509)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
1. Microphthalmia or anophthalmia or uveoretinal coloboma where there is evidence to support a likely monogenic cause, for example bilateral disease, consanguinity or additional ocular and non-ocular features, OR
2. Unilateral or bilateral congenital / developmental glaucoma, OR
3. Bilateral developmental glaucoma or anterior segment malformation, except where there is evidence of a non-genetic cause, OR
4. Aniridia with family history
Commissioning group
Specialised
Overlapping idications
• R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations • R38 Sporadic aniridia test should be used instead for sporadic classical aniridia
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form