Genetic testing

Genetic testing analyzes DNA, chromosomes, or gene products to identify variants associated with inherited conditions, health risks, or treatment responses. Tests range from examining one gene to sequencing entire genomes.

Polymerase chain reaction: A laboratory method that makes many copies of a selected DNA segment. PCR amplifies targeted regions so tests can detect specific variants or prepare samples for analysis.
Newborn screening: Testing newborns for conditions where early detection can enable timely treatment. It applies population-level genetic and biochemical testing shortly after birth.
Cascade screening: The systematic testing of relatives after a heritable risk variant is identified in one family member. One person's result can prompt targeted testing across a family.
Genetic screening: The testing of people without symptoms to identify elevated risk or a condition in a population. Screening seeks possible cases, while diagnostic testing investigates a specific clinical question.
DNA sequencing: The determination of the nucleotide order in a DNA molecule. Sequencing reveals the DNA changes that many genetic tests are designed to find.
Carrier screening: Testing people without symptoms to determine whether they carry variants associated with inherited conditions. It informs reproductive decisions when a condition can be inherited from both parents.
Genetic discrimination: Unfair treatment based on actual or perceived genetic characteristics. Test results may influence decisions by insurers, employers, or institutions, subject to legal protections.
Genetic diagnosis: The identification of a genetic cause for a person's signs, symptoms, or condition. Diagnostic testing is one specific purpose within the broader practice of genetic testing.
Chromosomal microarray: A test that detects genome-wide gains or losses of DNA using probes fixed to a solid surface. It can identify deletions and duplications that single-gene sequencing may miss.
Prenatal testing: Testing during pregnancy to assess fetal genetic or chromosomal conditions. It includes diagnostic procedures and screening tests that estimate genetic risk.

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