title: [Current perspectives on genome-based diagnostic tests in Pediatrics].
abstract: Etiological diagnosis is essential in the clinical management of individual patients. Some children with complex medical conditions are subjected to numerous testing, known as "diagnostic odyssey", which often gives no conclusive results. In recent years, a revolution in genomic medicine is underway with the use of technologies that promise to increase the ability to make a diagnosis and reduce the time involved. The main advantages and limitations of genomic diagnosis, as opposed to usual methodologies are reviewed with an emphasis on Pediatrics.
authors.affiliation: Centro de Genética y Genómica, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile; Hospital Padre Hurtado, San Ramón, Santiago, Chile. Electronic address: glayson@udd.cl.
authors.forename: R Guillermo
authors.initials: RG
authors.lastname: Lay-Son
authors.affiliation: Centro de Genética y Genómica, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile.
authors.forename: P Luis
authors.initials: PL
authors.lastname: León
mesh_terms: D002648:Child; D003955:Diagnostic Tests, Routine / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D023281:Genomics / Q000379:methods*; D006801:Humans; D010372:Pediatrics; D013997:Time Factors
keywords: Diagnose; Exome; Genome; Genomics; Genómica; Microarrays; Next-Generation Sequencing; diagnóstico; exoma; genoma; microarrays; next-generation sequencing