Top 10 Commonly Confused Words in Molecular Pathology

Top 10 Commonly Confused Words in Molecular Pathology 1. Mutation vs. Polymorphism Often used interchangeably, these terms have distinct meanings. A mutation is a permanent alteration in DNA, leading to a change in the genetic code. On the other hand, a polymorphism refers to a variation that occurs in at least 1% of the population. While mutations can have clinical implications, polymorphisms are usually benign. 2. Sensitivity vs. Specificity These terms are vital in assessing the accuracy of a diagnostic test. Sensitivity measures the ability of a test to correctly identify individuals with the condition. Specificity, on the other hand, determines the test's ability to correctly identify those without the condition. Both parameters are crucial for evaluating a test's performance. 3. Genotype vs. Phenotype Genotype refers to an individual's genetic makeup, the specific combination of alleles they possess. Phenotype, on the other hand, refers to the observable characteristics resulting from the interaction of genes with the environment. Understanding the relationship between genotype and phenotype is fundamental in molecular pathology. 4. Sensitivity vs. Specificity