AGMT key terms

A laboratory method that copies a specific DNA segment many times using repeated cycles of heating and cooling with primers and a DNA polymerase, producing enough material for analysis or sequencing.

A DNA sequencing method that determines the order of nucleotides in a single DNA fragment by synthesizing complementary strands that terminate at specific bases, then separating the products by size.

High-throughput DNA sequencing technologies that simultaneously sequence millions of small DNA fragments in parallel, enabling rapid analysis of entire genomes or targeted regions.

A short single-stranded DNA sequence that provides a starting point for DNA synthesis by a polymerase, defining the region to be amplified or sequenced.

A cytogenetic technique that arranges a cell's chromosomes in a standard order and stains them to detect numerical or large structural abnormalities visible under a microscope.

A technique that uses fluorescently labeled DNA probes to bind specific chromosome regions, allowing visualization of gene amplifications, deletions, or rearrangements in cells.

A high-resolution test that detects copy number variations across the genome by comparing a patient's DNA hybridization intensity to a reference, identifying small deletions and duplications.

A structural variation in which a DNA segment is duplicated or deleted, resulting in an abnormal number of copies of that region compared to the reference genome.

A permanent change in the DNA sequence that can alter gene function, ranging from single nucleotide substitutions to large chromosomal rearrangements.

A genetic change whose association with disease is not yet established, so it cannot be used alone to make clinical decisions without further evidence.

A genetic alteration that is known to increase the risk of developing a specific disease or condition, based on sufficient evidence from research and clinical data.

A pattern of inheritance in which one altered copy of a gene is sufficient to cause a disorder, so an affected person has a 50% chance of passing the condition to each child.

A pattern of inheritance in which two altered copies of a gene are required to cause a disorder, meaning both parents are typically carriers and each child has a 25% risk of being affected.

A person who has one copy of a recessive disease-causing variant but does not show symptoms, and can pass the variant to offspring.

A pattern in which a genetic trait or disorder is controlled by a gene on the X chromosome, often affecting males more severely because they have only one X chromosome.

The proportion of individuals with a specific genetic variant who actually show signs of the associated condition, which can be complete or incomplete.

The phenomenon where individuals with the same genetic variant exhibit a range of different signs and symptoms, from mild to severe.

The situation in which mutations in different genes can cause the same clinical condition, or different mutations in one gene can produce different phenotypes.

A set of computational steps and software tools used to process raw sequencing data into interpreted genetic variants, including alignment, variant calling, and annotation.

The process of identifying differences between a patient's DNA sequence and a reference genome from sequencing data, typically using specialized software algorithms.

The ability of a genetic test to accurately predict the presence, absence, or risk of a specific clinical condition, supported by evidence from studies.

The likelihood that a genetic test result will improve patient outcomes by influencing medical decisions, treatment, or prevention strategies.

A measure of how accurately and reliably a genetic test detects the specific genetic variant or alteration it is designed to identify.

An external quality assessment program that evaluates a laboratory's performance by having it test unknown samples and comparing results with other laboratories or reference standards.

Internal laboratory procedures and checks performed during each test run to ensure that equipment, reagents, and processes are working correctly and results are reliable.

The process by which a patient voluntarily agrees to genetic testing after being fully informed about the test's purpose, risks, benefits, and limitations, and alternative options.

Unfair treatment of an individual based on their genetic information, such as denial of insurance or employment, which is prohibited by laws like the Genetic Information Nondiscrimination Act (GINA).

A communication process that helps individuals and families understand genetic risks, make informed decisions about testing, and adapt to genetic conditions.

The study of how genetic variations affect an individual's response to medications, used to personalize drug selection and dosing.

A public health program that tests newborns for certain treatable genetic and metabolic disorders to enable early intervention and prevent severe health outcomes.

A method that analyzes small fragments of DNA circulating in the blood, often used for non-invasive prenatal testing or cancer detection.

A laboratory technique that separates DNA fragments by size using an electric field in a narrow capillary, commonly used in Sanger sequencing and fragment analysis.

A research approach that compares genetic variants across many individuals to identify associations between specific variants and traits or diseases.

A genetic alteration present in the reproductive cells (eggs or sperm) that can be passed to offspring and is found in every cell of the affected individual.

A genetic change acquired in non-reproductive cells during a person's lifetime, often associated with cancer, and not inherited by offspring.

The presence of two or more genetically different cell populations within an individual, arising from a mutation during development or cell division.