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

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

Abstract Purpose Inherited kidney diseases are among the leading causes of kidney failure in children, resulting in increased mortality, high healthcare costs and need for organ transplantation. Next-generation sequencing technologies can help in the diagnosis of rare monogenic conditions, allowing...

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Bibliographic Details
Main Authors: Tiziana Vaisitti, Valeria Bracciamà, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Martina Callegari, Silvia Kalantari, Fiorenza Mioli, Carmelo Maria Romeo, Maria Luca, Roberta Camilla, Francesca Mattozzi, Bruno Gianoglio, Licia Peruzzi, Antonio Amoroso, Silvia Deaglio
Format: Article
Language:English
Published: BMC 2023-02-01
Series:Human Genomics
Subjects:
Clinical exome sequencing
Next-generation sequencing
Kidney diseases
Genetic testing
Pediatric cohort
Online Access:https://doi.org/10.1186/s40246-023-00456-w

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