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impe0096p99 | Growth and Syndromes | IMPE2023

Next generation sequencing implementation for the diagnosis of endocrine disorders: 4 years-experience in a public paediatric hospital

Scaglia Paula , Esnaola Azcoiti María , Izquierdo Agustín , Correa Brito Lourdes , Maier Marianela , Sanso Gabriela , Casali Bárbara , Villegas Florencia , Armando Romina , Sanguineti Nora , Brunello Franco , Rozental Sandra , Raffo Diego , Rosenbrock Solange , Gabriela Ballerini María , Boywitt Adriana , Castro Sebastián , Braslavsky Débora , Freire Analía , Enacan Rosa , Clement Florencia , Grinspon Romina , Keselman Ana , Gryngarten Mirta , Arcari Andrea , Vieites Ana , Chiesa Ana , Papendieck Patricia , del Carmen Fernández María , Martí Marcelo , Arberas Claudia , Bergadá Ignacio , Rey Rodolfo , Gabriela Ropelato María

Introduction: Most paediatric rare diseases have an underlying genetic cause but making a molecular diagnosis is often still a challenge. The incorporation of Next Generation Sequencing (NGS) technologies into research and clinical workflows has improved the diagnosis of these disorders.Objective: To evaluate the process of NGS implementation for the diagnosis of genetic endocrine diseases in a tertiary public paediatric...

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Next generation sequencing implementation for the diagnosis of endocrine disorders: 4 years-experience in a public paediatric hospital

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