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
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