This panel includes syndromic diseases with pediatric onset, multisystem manifestations, and genitourinary system alterations, such as kidney malformations, renal hypoplasia/aplasia, hydronephrosis, vesico-ureteral reflux,
duplicated collecting system, renal cysts, nephronophthisis, nephrolithiasis, nephrotic syndrome, and those that can lead to kidney failure. Among the phenotypes included in this group of diseases, it is worth noting the following syndromes:
Vesico-ureteral reflux, Van Maldergem, Townes-Brocks, Simpson-Golabi-Behmel, short-rib thoracic dysplasia, Senior- Løken, renal tubular dysgenesis, renal hypodysplasia/aplasia, Peutz-Jeghers, Pallister-Hall, otofaciocervical, Meckel,
LADD, Joubert, Galloway-Mowat, Fraser, Cornelia de Lange, CHARGE, branchio-oculo-facial, Beckwith-Wiedemann, Alagille, Meier-Gorlin, Bardet-Biedl.
Through ClientSite you can filter variants and download your reports