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Molecular and nucleic acid diagnostics

19 articles

Antibiogram

An antibiogram is a periodic, cumulative summary of antimicrobial susceptibility testing results from a defined patient population, guiding empirical antibiotic therapy before individual susceptibility results are available.

Aspergillus galactomannan antigen test

The Aspergillus galactomannan antigen test, also called Galactomannan Antigen, is a sandwich immunoassay detecting Aspergillus antigen in serum or lung fluid to diagnose invasive aspergillosis in immunocompromised patients.

Chromosomal analysis

Chromosomal analysis is a cytogenetic diagnostic method that examines chromosome number and structure, most commonly by G-banded karyotyping, to detect abnormalities such as aneuploidy and translocations.

Expanded carrier screening

Expanded carrier screening is a genetic test offered to prospective parents, ideally before conception, that detects carrier status for dozens to hundreds of recessive and X-linked conditions at once.

Fecal immunochemical test

A fecal immunochemical test (FIT) is a stool-based test using antibodies against human hemoglobin to detect hidden blood for colorectal cancer screening, done at home with no preparation.

Intermittently scanned continuous glucose monitoring

Intermittently scanned continuous glucose monitoring (isCGM), also called flash glucose monitoring, is a diabetes monitoring method in which a wearable sensor displays readings only when scanned.

Liquid biopsy

A liquid biopsy is a minimally invasive diagnostic method that analyzes circulating tumor DNA and cells in blood to detect cancer, guide treatment selection, and monitor recurrence after surgery.

Luciferase immunoprecipitation system assay

The luciferase immunoprecipitation system (LIPS) assay is a liquid-phase serological method, published in 2009, that quantifies serum antibodies against a luciferase-tagged antigen without radioisotopes or per-antigen optimization.

Molecular Diagnostic Techniques

Molecular diagnostic techniques are molecular biology methods, chiefly PCR, sequencing, isothermal amplification, microarrays, and CRISPR assays, used to diagnose disease by detecting DNA or RNA from pathogens, tumors, or human genomes.

Pharmacogenomic testing

Pharmacogenomic testing is a genetic test that analyzes DNA variants to predict how a patient will respond to medications, guiding drug selection and dosing in personalized medicine.

PSA testing

PSA testing, also known as the PSA test, is a blood test measuring prostate-specific antigen to screen men for prostate cancer, though it carries risks of false positives and overdiagnosis.

Serological testing

Serological testing detects antibodies or antigens in blood serum to diagnose infection, establish immune status, or document exposure, using methods such as ELISA, agglutination, and complement fixation.

Smear examination

A smear examination is a diagnostic method in which cells or microorganisms from a specimen are fixed, stained, and examined under a microscope, mainly for tuberculosis and malaria.

Sputum cytology

Sputum cytology is a noninvasive, inexpensive diagnostic test that examines cells from coughed-up sputum under the microscope to detect lung cancer, though it is no longer recommended for screening.

Step nucleic acid amplification test

Step nucleic acid amplification test (sNAAT) is a proposed label for an isothermal nucleic acid amplification test detecting pathogen genomes at one constant temperature, without PCR's thermal cycling.

Surveillance culture

A surveillance culture is a microbiology test that detects colonization by multidrug-resistant organisms such as MRSA, VRE, and Candida auris in patients without infection signs, guiding isolation and decolonization.

TERT promoter mutation analysis

TERT promoter mutation analysis is a molecular pathology test detecting C228T and C250T mutations to diagnose and stratify cancers, especially gliomas, bladder cancers, and melanomas.

Venous sampling

Venous sampling is a diagnostic catheter procedure that draws blood from selected deep veins to measure hormone gradients, localizing which gland is secreting excess hormone.

Xpert MTB/RIF assay

The Xpert MTB/RIF assay is an automated cartridge-based molecular test that detects tuberculosis DNA and rifampicin resistance directly from unprocessed sputum in under two hours, endorsed by WHO in 2010.