title: [Molecular diagnosis of ADPKD].
abstract: 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.
authors: Francesco
authors: F
authors: Scolari
authors: Gianfranco
authors: G
authors: Savoldi
authors: Cinzia
authors: C
authors: Mazza
authors: Claudia
authors: C
authors: Izzi
mesh_terms: D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006801:Humans; D025202:Molecular Diagnostic Techniques; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics; D017410:Practice Guidelines as Topic