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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old