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GTR Home > Tests > Nephronophthisis Panel

Overview

Test name

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Nephronophthisis Panel

Purpose of the test

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This is a clinical test intended for Help: Screening, Pre-symptomatic, Diagnosis, Mutation Confirmation, Monitoring, Risk Assessment

Condition

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How to order

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•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Saliva
Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • 1. Renkema, K.Y., et al., Next-generation sequencing for research and diagnostics in kidney disease. Nat Rev Nephrol, 2014. 2. Hoff, S., et al., ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet, 2013. 45(8): p. 951-6. 3. Hurd, T.W. and F. Hildebrandt, Mechanisms of nephronophthisis and related ciliopathies. Nephron Exp Nephrol, 2011. 118(1): p. e9-14. 4. O'Toole, J.F., et al., Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest, 2010. 120(3): p. 791-802. 5. Hoefele, J., et al., Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol, 2007. 18(10): p. 2789-95.

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom mutation-specific/Carrier testing
  • Custom Prenatal Testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.