CFHR5 Nephropathy


This autosomal dominant condition is caused by mutation in the Complement Factor H-Related gene 5 (CFHR5; MIM: *608593). Affected individuals display persistent microscopic haematuria with episodes of macroscopic haematuria associated with intercurrent infections (commonly of the respiratory tract). The incidence of CFHR5 nephropathy in the Cypriot population is estimated at 1/1000 to 1/8000; prevalence in the UK Caucasian population is low (<1:100,000) since C3GN is a very rare diagnosis.

Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.

Additional information

For additional information please click on the link Download additional information >

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

10 days

Disease / group



Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

© 2011 Great Ormond Street Hospital for Children NHS Trust