CFHR5 Nephropathy


Description

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.


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Additional information

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Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

10 days


Disease / group

CFHR5


Cost

Upon request


Call in advance?

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


Genetics

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

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