Genetic tests

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Genetic tests

Genetic tests (pronunciation: /dʒɪˈnɛtɪk tɛsts/) are medical tests that identify changes in chromosomes, genes, or proteins to confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder.

Etymology

The term "genetic" comes from the Greek word "genetikos" meaning "genitive" and "genes" meaning "born". The term "test" originates from the Old French "test" meaning "small vessel".

Types of Genetic tests

There are several types of genetic tests, including:

  • Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder.
  • Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.
  • Biochemical genetic tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.

Related Terms

  • Genome: The complete set of genes or genetic material present in a cell or organism.
  • DNA: Deoxyribonucleic acid, a self-replicating material which is present in nearly all living organisms as the main constituent of chromosomes. It is the carrier of genetic information.
  • Mutation: A change in the DNA sequence that affects genetic information.
  • Chromosome: A thread-like structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
  • Protein: A molecule composed of polymers of amino acids joined together by peptide bonds.
  • Gene: A unit of heredity which is transferred from a parent to offspring and is held to determine some characteristic of the offspring.

See Also

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