Molecular diagnosis of ADPKD
Scolari, F.; Savoldi, G.; Mazza, C.; Izzi, C.
Giornale Italiano di Nefrologia: Organo Ufficiale Della Societa Italiana di Nefrologia 33(5)
2016
ISSN/ISBN: 1724-5990 PMID: 27796017 Document Number: 686488
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.