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Mutation detection has become a very important chapter in medicine, following the development of molecular technology forthe study of pathogenic mutations in human diseases.
DNA
technologies allow great advances in basic knowledge of the pathophysiologyof disorders, adding new means of diagnosis to characterize the molecular defect and to correlate between genotype and phenotype. The field of molecular diagnosis is evolving rapidly, and currently, it broadly comprises genetic disease analysis, paternitytesting, forensic studies, assessment of genetic risk, and so on. A number of molecular techniques have been developed duringthe last 10–15 yr that greatly improve diagnostic and prognostic capabilities, allowing carrier detection, and prenatal diagnosis.