Nephronophthisis (NPHP)

Sponsored diagnostic testing programs for Nephronophthisis (NPHP)

Nephronophthisis is a ciliopathy that primarily affects the kidneys, leading to tubulointerstitial nephritis and progression to end-stage renal disease, often in childhood or adolescence. Some subtypes have extrarenal features such as retinal degeneration or liver fibrosis. Genetic testing clarifies the subtype and informs surveillance and transplant planning.

1 program found for Nephronophthisis (NPHP)

Programs

1 program
Invitae Unlock™

Invitae Inherited Retinal Disorders Panel

This program offers U.S. clinicians access to comprehensive genetic testing for patients with suspected inherited retinal diseases, including RP, CRD, LCA, Stargardt disease, and other IRDs. Testing is also appropriate for asymptomatic individuals with a family history of IRD or a known pathogenic variant in a relevant gene, supporting diagnosis, risk assessment, and patient management.

Ophthalmology
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Performing labInvitae | Labcorp