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.
Mutation screening is available for affected individuals with LORD. Pre-symptomatic testing is available in families with a previously identified mutation.
Pyrosequencing is used to detect the c.489C>G p.(Ser163Arg) and c.489C>A p.(Ser163Arg) mutations
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
4ml EDTA blood sample
Please see our referral guidelines for more information.
OMIM Number(s) - 605670
Gene(s) - CTRP5/C1QTNF5