Molecular Diagnostic Methods in Genetic Neuromuscular and Neurodegenerative Diseases
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Abstract
The etiological study of neurogenetic diseases requires molecular diagnosis, for which various genetic analysis techniques that the physician must know, and in turn, this technique must be analyzed by the laboratory considering the clinical guidance. The lack of knowledge of the correlations between the phenotypes and the appropriate tests can lead to diagnostic errors since the wrong technique would not identify the underlying genetic cause, confusing or postponing the diagnosis. A review of molecular biology techniques applied to neurogenetic diagnosis, examples of clinical correlations with specific techniques, and tables with allele types related to diagnostic confirmation are presented. This review is helpful for clinical interpretation and for analysis and reporting of results by laboratories that perform molecular diagnostic tests.
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