Juvenile nephronopthisis


Description

Familial juvenile nephronophthisis (NPH1, MIM 256100) is an autosomal recessive condition accounting for 2-10% of childhood chronic renal failure. It is caused by mutations in the NPHP1 gene on chromosome 2. Approximately 80% of familial, and 65% of sporadic nephronophthisis patients with purely renal symptoms have been shown to be homozygous for a 250kb deletion of chromosome 2q13, including almost the entire NPHP1 gene. A subset of individuals affected with a mild form of Joubert syndrome have also been reported to have this homozygous deletion.


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

We offer testing for confirmation of diagnosis in affected probands. Carrier testing is NOT available. Detection of the homozygous 250kb deletion in affected probands only. Download additional information >


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

NPHP1


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.

© 2011 Great Ormond Street Hospital for Children NHS Trust