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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
  • end stage renal disease
  • electronic health record
  • young adults
  • public health
  • genome wide
  • stem cells
  • cell therapy
  • copy number
  • gene expression
  • peritoneal dialysis
  • bone marrow