Knowra Molecular pathology Molecular pathology Molecular pathology studies disease through changes in DNA, RNA, proteins, and other molecules. It uses molecular tests to diagnose disorders, characterize tumors, and guide treatment.
Polymerase chain reaction : A laboratory method that amplifies selected DNA sequences through repeated cycles of copying. PCR detects and measures disease-associated DNA or RNA sequences in patient samples.
Companion diagnostic : A test used to identify patients likely to benefit from a particular therapy or face its risks. Tumor biomarkers can determine whether a targeted drug is an appropriate option.
Molecular biology : The study of biological processes at the level of molecules, especially DNA, RNA, and proteins. Its central molecules and processes provide the basis for molecular pathology.
Histopathology : The examination of diseased tissue under a microscope to identify structural changes. It classifies disease by tissue appearance, while molecular pathology focuses on molecular alterations.
Next-generation sequencing : A set of technologies that sequence millions of DNA or RNA fragments in parallel. Parallel sequencing can reveal many variants in a tumor or inherited disorder at once.
Liquid biopsy : Analysis of tumor-derived material, such as circulating DNA, in a body fluid. Blood-based testing can reveal tumor alterations when tissue is limited or hard to obtain.
Pathology : The study of disease through its causes, development, and effects on the body. Molecular pathology extends disease analysis beyond morphology to molecular evidence.
Cytopathology : The diagnosis of disease through examination of individual cells and small cell groups. Cellular morphology can provide a diagnosis without the molecular assays used in this field.
Fluorescence in situ hybridization : A technique that uses fluorescent DNA probes to detect selected sequences in cells or tissue. It shows whether specific genes are amplified, deleted, or rearranged in their tissue context.
Tumor mutational burden : The number of mutations present in a tumor’s genome, usually measured per DNA megabase. It is one molecular feature used to assess possible response to immunotherapy.
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