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.
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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
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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.
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
Call in advance?
Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis