Identification of genetic polymorphisms and other mutations

Genetic and functional approaches are the two main ones used in identification of genes that, when mutated, cause disease. In genetic approaches to the study of hereditary disease, genetic mapping methods are employed to identify the position within the human genome of a genetic factor influencing development of a disorder.

Molecular detection of pathogens

Diagnosis of infectious diseases by using PCR involves target amplification methods. Unlike phenotypic characteristics that may be variable, molecular amplification methods take advantage of the use of stable genotypic characteristics.