molekulaargdiagnostikas

Molecular diagnostics is a field of medical testing that uses molecular biology techniques to analyze biological molecules such as nucleic acids (DNA, RNA) and, in some contexts, proteins to diagnose disease, monitor patient status, and guide therapy. It enables detection of pathogens, identification of genetic alterations, and assessment of gene expression or protein markers that inform prognosis and treatment decisions.

Common methods include nucleic acid amplification techniques such as polymerase chain reaction (PCR) and variants (qPCR, RT-qPCR, digital PCR), sequencing approaches (Sanger and next-generation sequencing), and array- or hybridization-based assays. Isothermal amplification and CRISPR-based diagnostics are increasingly used for rapid or point-of-care testing. Applications span infectious disease testing, where pathogen identification and resistance profiling are critical; oncology, where tumor mutations guide targeted therapies; inherited genetic disorders; pharmacogenomics; transplant monitoring; and newborn or population screening. Specimens may include blood, tissue, saliva, urine, or swabs, with pre-analytical steps affecting accuracy.

Laboratories performing molecular diagnostics implement rigorous validation, quality control, and accreditation (e.g., ISO 15189, CLIA, CAP). Workflow typically includes sample collection, extraction of nucleic acids, assay execution, data analysis, and reporting. Limitations include the need for specialized equipment and bioinformatic expertise, potential for contamination or false results, and cost considerations. Ongoing developments aim to enable rapid, point-of-care molecular testing, integration with electronic health records, metagenomic and single-cell analyses, and broader use of sequencing to enable precision medicine and responsive public health surveillance.