Clinical Indication ID & Name
Possible X-linked retinitis pigmentosa
Test Group
Ophthalmology
Specialties
Test code
R33.1
Test name
N/A
Target genes
RPGR exon ORF15
Test scope
n/a
Test method/ technology
Targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Unexplained retinal disease with features consistent with X-linked retinitis pigmentosa in whom variants at RPGR exon ORF15 have not been excluded
Commissioning group
Specialised
Overlapping idications
• RPGR exon ORF15 to be analysed first and if uninformative, consider R32 WGS
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