What is genetic testing?: MedlinePlus Genetics (2024)

Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. More than 77,000 genetic tests are currently in use, and others are being developed.

Genetic testing involves looking for changes in:

  • Genes: Gene tests study DNA sequences to identify variations (mutations) in genes that can cause or increase the risk of a genetic disorder. Gene tests can be narrow or large in scope, analyzing an individual DNA building block (nucleotide), one or more genes, or all of a person’s DNA (which is known as their genome).
  • Chromosomes: 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.
  • Proteins: Biochemical genetic tests study the amount or activity level of proteins or enzymes; abnormalities in either can indicate changes to the DNA that result in a genetic disorder.

Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.

What is genetic testing?: MedlinePlus Genetics (2024)

FAQs

What is genetic testing?: MedlinePlus Genetics? ›

Genetic tests analyze your cells or tissue to look for any changes in: Genes, which are parts of DNA that carry the information needed to make a protein. Chromosomes, which are thread-like structures in your cells. They contain DNA and proteins.

What is the definition of genetic testing in genetics? ›

Listen to pronunciation. (jeh-NEH-tik TES-ting) A laboratory method that looks for changes in genes, gene expression, or chromosomes in cells or tissue of a person. These changes may be a sign of a disease or condition, such as cancer.

What is genetic testing Quizlet? ›

Genetic Test. Analysis of DNA to look for a genetic variation that may be associated with a specific trait, such as a disease or disorder.

What does genetic testing do for you? ›

Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease.

What is the definition of genetics? ›

Definition. 00:00. Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.

When is genetic testing done? ›

First-trimester screening includes a test of the pregnant woman's blood and an ultrasound exam. Both tests usually are done together between 10 weeks and 13 weeks of pregnancy: The blood test measures the level of two substances.

What is the definition of genetics quizlet? ›

Genetics. The study of heredity. Heredity. The passing of characteristics or traits from parents to offspring.

What is genetic testing and the duties of a genetic counselor? ›

Genetic counselors help identify families at possible risk of a genetic condition by gathering and analyzing family history and inheritance patterns and calculating chances of recurrence. They provide information about genetic testing and related procedures.

Why is genetic testing a problem? ›

Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Results in some cases may return inconclusive or uncertain.

How does genetic testing affect families? ›

Family emotions during the genetic testing process

A positive genetic test result can change some family relationships. Guilt: People who test positive for a gene mutation that increases breast cancer risk may feel guilty about possibly upsetting their family or passing it to their children, if they have any.

How much does a full genetic test cost? ›

They typically range from $100 to $2,000. These tests are typically used when a person has a family history of a certain genetic disorder, or when an individual has specific symptoms that suggest a genetic condition.

What is the modern definition of genetics? ›

Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century.

What are the basic principles of genetics? ›

1.that the inheritance of each trait is determined by "units" or "factors" that are passed on to descendents unchanged (these units are now called genes )
2.that an individual inherits one such unit from each parent for each trait
1 more row

What are the three types of genetics? ›

Genes, through the proteins they encode, determine how efficiently foods and chemicals are metabolized, how effectively toxins are detoxified, and how vigorously infections are targeted. Genetic diseases can be categorized into three major groups: single-gene, chromosomal, and multifactorial.

What are the two types of genetic testing? ›

There are three main types of genetic testing: chromosome studies, DNA studies, and biochemical genetic studies. Tests for cancer risk genes are done by DNA studies.

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