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Article

Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Journal of nephrology - 1 Dec 2021

Zacchia Miriam, Blanco Francesca Del Vecchio, Trepiccione Francesco, Blasio Giancarlo, Torella Annalaura, Melluso Andrea, Capolongo Giovanna, Pollastro Rosa Maria, Piluso Giulio, Di Iorio Valentina, Simonelli Francesca, Viggiano Davide, Perna Alessandra, Nigro Vincenzo, Capasso Giovambattista

Abstract excerpt

BACKGROUND: Genetic testing of patients with inherited kidney diseases has emerged as a tool of clinical utility by improving the patients' diagnosis, prognosis, surveillance and therapy. METHODS: The present study applied a Next Generation Sequencing (NGS)-based panel, named NephroPlex, testing 115 genes causing renal diseases, to 119 individuals, including 107 probands and 12 relatives. Thirty-five (poly)cystic...

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Share to PKD2 gene
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Kidney

Share to Microtubule-Associated Proteins

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Share to Polycystic Kidney, Autosomal Dominant

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Source

Open in PubMed Open full text

Identifiers

PMID: 33964006
DOI: 10.1007/s40620-021-01048-4
PMCID: PMC8610957

Genes

BBS4
PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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