Juvenile nephronopthisis


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.

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