Métodos diagnósticos moleculares en enfermedades neuromusculares y neurodegenerativas de origen genético

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Fernando Suárez-Obando
Adriana Ordóñez-Vásquez
Luisa Fernanda Suárez Ordóñez
Juan Carlos Prieto

Resumen

El estudio etiológico de las enfermedades neuro genéticas requiere del diagnóstico molecular, para lo cual se necesitan diversas técnicas de análisis genético que deben ser conocidas por el médico tratante y a su vez, ser analizadas por el laboratorio, a la luz de la orientación clínica. La falta de conocimiento de las correlaciones entre los fenotipos y las pruebas adecuadas puede llevar a errores en el diagnóstico, dado que la técnica equivocada no identificaría la causa genética subyacente, confundiendo o aplazando el diagnóstico. Se presenta una revisión de las técnicas de biología molecular aplicadas al diagnóstico neuro genético, ejemplos de correlaciones clínicas con técnicas específicas y tablas con los tipos de alelo relacionados con la confirmación diagnóstica. Esta revisión es de utilidad para la interpretación clínica y para el análisis e informe de resultados por parte de los laboratorios que realizan pruebas moleculares diagnósticas. 

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Suárez-Obando, F., Ordóñez-Vásquez, A., Suárez Ordóñez, L. F., & Prieto, J. C. (2024). Métodos diagnósticos moleculares en enfermedades neuromusculares y neurodegenerativas de origen genético. Pediatría, 57(1), e497. https://doi.org/10.14295/rp.v57i1.497
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