Métodos diagnósticos moleculares en enfermedades neuromusculares y neurodegenerativas de origen genético
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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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