Clinical Indication ID & Name
Albinism or congenital nystagmus
Test Group
Ophthalmology
Specialties
Test code
R39.1
Test name
N/A
Target genes
Albinism or congenital nystagmus (511)
Test scope
n/a
Test method/ technology
WES or Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
1. Albinism or generalised cutaneous hypopigmentation with or without ocular involvement, OR
2. Unexplained congenital nystagmus without a causative lesion on MRI brain
Test code
R39.2
Test name
N/A
Target genes
Albinism or congenital nystagmus (511)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Albinism or generalised cutaneous hypopigmentation with or without ocular involvement, OR
2. Unexplained congenital nystagmus without a causative lesion on MRI brain
Commissioning group
Specialised
Overlapping idications
n/a
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
Rare Disese WGS Clinician pack
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