Settembre Ottobre 2016 - Linee guida per la malattia policistica renale dell'adulto

Molecular diagnosis of ADPKD


Most patients with ADPKD do not need molecular genetic testing. When indicated, Sanger sequencing is the most commonly used technique. When a pathogenic mutation is not identified by Sanger, multiplex ligation-dependent probe amplification analysis (MLPA) should be performed to detect gene rearrangement (insertion or deletion). The next generation sequencing (NGS) techniques can provide high-throughput and comprehensive diagnostic screening at lower cost. Finally, in the future, targeted (TS) or whole exome sequencing (WES) will likely play a role in the molecular diagnostics of ADPKD. Molecular genetic testing is indicated in several conditions: no family history; equivocal/atypical renal imaging; marked discordant disease within family; early and severe PKD; reproductive counseling and pre-implantation genetic diagnosis; related living donor transplantation.

Key words: Next Generation Sequencing (NGS), Autosomal Dominant Polycystic Kidney Disease (ADPKD), molecular genetic testing, Sanger sequencing

Full text of the article is available in Italian.