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Genetic and genomic testing

31 articles

Antibody test

An antibody test, also called a serological test, is a blood test that detects antibodies against a pathogen or antigen to show prior infection, immune response, or vaccination status.

Antifungal susceptibility testing

Antifungal susceptibility testing (AFST) is a clinical microbiology laboratory method measuring how well antifungal drugs inhibit patient fungal isolates, usually reported as a minimum inhibitory concentration.

Bethesda assay

The Bethesda assay is a hematology laboratory mixing test that quantifies neutralizing antibodies against coagulation factor VIII, the reference method for measuring inhibitors in hemophilia A and acquired hemophilia.

Blood gas testing

Blood gas testing, also called blood gas analysis, is a laboratory test measuring blood pH, carbon dioxide, and oxygen to assess ventilation, oxygenation, and acid–base status.

Breath test

A breath test measures gases in exhaled breath to detect disease, chiefly the urea breath test for H. pylori and hydrogen tests for malabsorption and SIBO.

Cancer genetics

Cancer genetics: the medical field studying genetic and genomic factors in cancer, split into somatic tumor testing and germline risk-allele testing; also the Elsevier journal Cancer Genetics, ISSN 2210-7762, continuing Cancer Genetics and Cytogenetics since 2011.

Carbapenem inactivation method

The carbapenem inactivation method (CIM) is a low-cost phenotypic assay that detects carbapenemase production in Gram-negative bacteria using a meropenem disk and an E. coli indicator strain.

Cerebrospinal fluid analysis

Cerebrospinal fluid analysis is a diagnostic test in which CSF, usually obtained by lumbar puncture, is examined for cells, protein, glucose, and pathogens to diagnose central nervous system disease.

Chromogenic in situ hybridization

Chromogenic in situ hybridization (CISH) is a pathology technique that detects specific DNA or RNA sequences in tissue sections, introduced in 2000 for HER2 testing in breast cancer.

Circulating tumor DNA detection

Circulating tumor DNA (ctDNA) detection is a blood-based diagnostic method that measures tumor-derived DNA fragments in plasma to genotype cancer non-invasively, assess treatment response, and detect molecular residual disease after therapy.

Congo red staining

Congo red staining is a histological dye method for detecting amyloid: Congo red binds amyloid fibrils in tissue sections, showing red staining and characteristic birefringence under crossed polarizers.

D3-creatine dilution

D3-creatine dilution (D3Cr) is a stable-isotope test measuring total skeletal muscle mass from one oral dose of deuterated creatine and a urine sample, validated against MRI.

Dilution method (antimicrobial susceptibility testing)

The dilution method in antimicrobial susceptibility testing exposes bacteria to serial twofold dilutions of an antibiotic to determine the minimum inhibitory concentration, the lowest level preventing visible growth.

Direct-To-Consumer Screening and Testing

Direct-to-consumer screening and testing (DTC, DTCT) sells laboratory and genetic tests directly to consumers without a clinician intermediary; covers FDA oversight tiers, market growth, evidence gaps, harms, and pricing.

Etest

The Etest is a gradient diffusion method for antimicrobial susceptibility testing in which a plastic strip carrying a dried antibiotic gradient yields a quantified MIC on agar.

Extramural venous invasion assessment

Extramural venous invasion (EMVI) assessment is the pathological and MRI evaluation of colorectal cancer for tumor cells in veins beyond the bowel wall, used for staging and prognosis.

Hemagglutination inhibition assay

The hemagglutination inhibition assay (HAI) is a serological test that quantifies antibodies blocking virus-induced clumping of red blood cells, and is the primary method for measuring influenza antibody responses.

HIV test

An HIV test is a medical diagnostic test that detects HIV infection by measuring HIV-specific antibodies, the viral p24 antigen, or viral RNA in blood, serum, plasma, or oral fluid.

IgG index

The IgG index is a CSF and serum ratio used in neurology to detect IgG produced within the central nervous system, once used in multiple sclerosis workup.

Inferior petrosal sinus sampling

Inferior petrosal sinus sampling (IPSS) is an endocrinology procedure that distinguishes pituitary from ectopic ACTH secretion in Cushing syndrome, the gold standard when pituitary MRI is equivocal.

Ovulation test

An ovulation test is a urine-based diagnostic test that detects the luteinizing hormone surge predicting ovulation within 24 to 36 hours, used for fertility timing since the mid-1970s.

Preimplantation genetic screening

Preimplantation genetic screening, now called PGT-A, is a reproductive medicine procedure that tests IVF embryos for chromosomal abnormalities before transfer, selecting embryos most likely to produce a live birth.

Presymptomatic testing

Presymptomatic testing is a genetic test on an asymptomatic person at family risk to determine whether they inherited a disease-causing mutation for a disorder that typically appears later in life.

Provocation testing

Provocation testing is a diagnostic method in which a suspected trigger, such as a drug, food allergen, or hormone, is given in escalating doses under medical supervision to confirm hypersensitivity.

Saliva testing

Saliva testing analyzes saliva or oral fluid for hormones, drugs, antibodies, and nucleic acids, serving as a noninvasive alternative to blood testing in endocrinology, toxicology, and oncology.

Salivary diagnostics

Salivary diagnostics is a clinical approach measuring biomarkers in saliva, including hormones, cytokines, antibodies, and nucleic acids, to detect and monitor oral and systemic disease without a blood draw.

Sex Determination Analysis

Sex Determination Analysis (MeSH D012732): validating an individual's sex by gonadal inspection or genetic tests. Covers karyotype, QFPCR, SRY testing in DSD care, prenatal screening, forensic amelogenin/SRY methods, and sports eligibility testing.

SMART study

SMART study (SNP-based Microdeletion and Aneuploidy RegisTry, NCT02381457): Natera-funded, 21-center prospective registry of over 20,000 pregnancies evaluating SNP-based cfDNA screening; reported 83.3% sensitivity and 52.6% PPV for 22q11.2 deletion syndrome with genetic confirmation of all samples.

Stool culture

Stool culture is a microbiological test that grows bacteria from fecal specimens to identify the pathogens causing bacterial gastroenteritis, including Salmonella, Shigella, Campylobacter, and E. coli O157:H7.

Stool DNA test

A stool DNA test is an at-home colorectal cancer screening test that detects DNA shed from tumors into stool, marketed as Cologuard and FDA approved in 2014.