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GTR Home > Tests > Comprehensive Nephrology Gene Panel

Overview

Test order codeHelp: NEPHP

Test name

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Comprehensive Nephrology Gene Panel (NEPHP)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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https://www.mayocliniclabs.com/test-catalog/Overview/618086#Specimen
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Other
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NovaSeq 6000

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Bernabeu-Herrero ME, Jimenez-Alcazar M, Anter J, et al. Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome. Mol Immunol. 2015 Oct;67(2 Pt B):276-286. doi: 10.1016/j.molimm.2015.06.021
  • Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D: Inherited tubulopathies of the kidney: Insights from genetics. Clin J Am Soc Nephrol. 2021 Apr 7;16(4):620-630. doi: 10.2215/CJN.14481119
  • Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y: Insights into autosomal dominant polycystic kidney disease from genetic studies. Clin J Am Soc Nephrol. 2021 May 8;16(5):790-799. doi: 10.2215/CJN.02320220
  • Lemaire M, Noone D, Lapeyraque AL, Licht C, Fremeaux-Bacchi V: Inherited kidney complement diseases. Clin J Am Soc Nephrol. 2021 Jun;16(6):942-956. doi:10.2215/CJN.11830720
  • Li AS, Ingham JF, Lennon R: Genetic disorders of the glomerular filtration barrier. Clin J Am Soc Nephrol. 2020 Dec 7;15(12):1818-1828. doi: 10.2215/CJN.11440919
  • Nishimura J, Yamamoto M, Hayashi S, et al. Genetic variants in C5 and poor response to eculizumab. N Engl J Med. 2014 Feb13;370(7):632-639. doi: 10.1056/NEJMoa1311084
  • Parsa A, Kao WH, Xie D, et al: APOL1 risk variants, race, and progression of chronic kidney disease. N Engl J Med. 2013 Dec 5;369(23):2183-2196. doi: 10.1056/NEJMoa1310345
  • Quinlan C, Rheault MN: Genetic basis of type IV collagen disorders of the kidney. Clin J Am Soc Nephrol. 2021 Jul;16(7) 1101-1109. doi: 10.2215/CJN.19171220

Clinical validity

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Not provided

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.