Late Onset Retinal Dystrophy (LORD)

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.

Technical information

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

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