Introduction
Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. We offer testing for the c.489C>G p.(Ser163Arg) and c.489C>A p.(Ser163Arg) mutations in CTRP5/C1QTNF5. The p.(Ser163Arg) substitution is the only mutation associated with LORD.
Referral information
Mutation screening is available for affected individuals with LORD. Pre-symptomatic testing is available in families with a previously identified mutation.
Price & reporting times
Test | Price NHS (£) | Price non- NHS (£) | TRT (calendar days) |
Single mutation test | POA | POA | 28 |
Urgent/Predictive single mutation test | POA | POA | 14 |
Test validation & quality assurance - information for users
The c.489C>G mutation is found in 20% of patients referred for LORD testing. The laboratory is UKAS assessed against ISO 15189 standards.
Sample requirements
4ml EDTA blood sample
Referral guidelines
Please see our referral guidelines for more information.
OMIM Number(s) - 605670
Gene(s) - CTRP5/C1QTNF5