Exoma clínico como estratégia diagnóstica transversal: experiencia de una institución de alta especialización

Date: July 20, 2026July 20, 2026
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Home breadcrumb-arrow Exoma clínico como estratégia diagnóstica transversal: experiencia de una institución de alta especialización

This webinar is presented in Spanish.

En esta presentación compartiremos la experiencia del Laboratorio de Biología Molecular del Sanatorio Americano en la implementación del Exoma Clínico como herramienta diagnóstica para pacientes con enfermedades complejas y de difícil resolución. A través de casos clínicos reales, mostraremos cómo la genómica puede integrarse a la práctica asistencial para aportar respuestas diagnósticas de alto impacto clínico.

La presentación estará centrada en casos provenientes de distintas especialidades médicas, haciendo foco en las ventajas del uso del Exoma clínico frente a los paneles dirigidos.

Discutiremos las ventajas de adoptar una estrategia diagnóstica más amplia desde el inicio del estudio, especialmente en pacientes con fenotipos complejos, manifestaciones atípicas o cuadros clínicos que involucran múltiples sistemas. 

Finalmente, presentaremos la experiencia de implementación de esta tecnología de SOPHiA GENETICS para el análisis e interpretación de variantes, en una institución médica de alta especialización desde una perspectiva de optimización de recursos.

 El objetivo es mostrar cómo el Exoma Clínico puede mejorar el rendimiento diagnóstico, optimizar la toma de decisiones médicas y acercar la medicina de precisión a la práctica clínica cotidiana, en la región.

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Disclaimer notice:
The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expressed during this presentation are those of the speakers and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.

SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us to obtain the appropriate product information for your country of residence.

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