Clinical Indication ID & Name
R31
Bilateral congenital or childhood onset cataracts
Test Group
Ophthalmology
Specialties
Test code
R31 .3
Test name
N/A
Target genes
Cataracts (230)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained bilateral congenital or childhood onset cataracts
Commissioning group
Specialised
Overlapping idications
• R36 Structural eye disease test should be used in individuals with cataract in the context of microphthalmia or other structural eye disease • 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
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