The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution.

Tiziana VaisittiValeria BracciamàAngelo Corso FainiGiulia Margherita Brach Del PreverMartina CallegariSilvia KalantariFiorenza MioliCarmelo Maria RomeoMaria LucaRoberta CamillaFrancesca MattozziBruno GianoglioLicia PeruzziAntonio AmorosoSilvia Deaglio

Published in: Human genomics (2023)

Results indicate that genetic testing consistently used in the diagnostic workflow of children with chronic kidney disease can (i) confirm clinical diagnosis, (ii) provide early diagnosis in the case of inherited conditions, (iii) find the genetic cause of previously unrecognized diseases and (iv) tailor transplantation programs.

Keyphrases

chronic kidney disease
electronic health record
end stage renal disease
young adults
public health
genome wide
gene expression
cell therapy
dna methylation
bone marrow