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What is genetic testing?
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Testing

What is Genetic Testing?

Genetic testing identifies changes in genes, chromosomes, or proteins to confirm a suspected condition or assess the risk of developing or passing on a genetic disorder.

Overview

Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results 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.

What Genetic Testing Looks For

  • Genes: Gene tests study DNA sequences to identify variations (mutations) that can cause or increase the risk of a genetic disorder. Tests may be narrow or broad, analyzing a single nucleotide, one or more genes, or the entire genome.
  • Chromosomes: Chromosomal tests analyze whole chromosomes or long DNA segments to detect large genetic changes, such as an extra copy of a chromosome, that cause a condition.
  • Proteins: Biochemical tests examine the amount or activity level of proteins or enzymes; abnormalities can indicate DNA changes that result in a genetic disorder.

Decision to Test

Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision to be tested is personal and complex. A geneticist or genetic counselor can provide information about the pros and cons and discuss the social and emotional aspects of testing.

Resources for General Information

  • MedlinePlus offers a list of links to information about genetic testing.
  • The Genetic Testing Registry, a service from the National Library of Medicine, provides a searchable database of genetic tests.
  • The National Human Genome Research Institute provides an overview of this topic in its Frequently Asked Questions About Genetic Testing.

Related Topics in the Genetic Testing Chapter

  • What is genetic testing?
  • What are the different types of genetic tests?
  • What are the uses of genetic testing?
  • How is genetic testing done?
  • What is informed consent?
  • How can I be sure a genetic test is valid and useful?
  • What do the results of genetic tests mean?
  • What is the cost of genetic testing, and how long does it take to get the results?
  • Will health insurance cover the costs of genetic testing?
  • What are the benefits of genetic testing?
  • What are the risks and limitations of genetic testing?
  • What is genetic discrimination?
  • Can genes be patented?
  • How are genetic screening tests different from genetic diagnostic tests?
  • How does genetic testing in a research setting differ from clinical genetic testing?
  • What are whole exome sequencing and whole genome sequencing?
  • What are secondary findings from genetic testing?
  • What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?
  • What is circulating tumor DNA and how is it used to diagnose and manage cancer?

Frequently Asked Questions

In the United States, the Genetic Information Nondiscrimination Act (GINA) protects individuals by making it illegal for health insurance providers and most employers to request, demand, or use genetic testing information to set rates, deny coverage, or make hiring and firing decisions. However, GINA does not protect against discrimination in life insurance, disability insurance, or long-term care insurance, and it does not apply to employers with fewer than 15 employees.
negative result does not guarantee that you have zero genetic risk. If you are tested for a specific, known mutation that runs in your family and you test negative, that is a true negative and your risk is significantly reduced. However, if no specific familial mutation is known, a negative result simply means the test did not find a detectable pathogenic alteration among the genes analyzed. Unidentified genetic variations, complex multigenic factors, or non-genetic lifestyle and environmental elements could still influence your health.
If a disease-causing mutation is confirmed, consult a genetic counselor to discuss clinical management, which may include targeted cancer screenings, preventative medications, or specialized imaging. You should also share the formal laboratory report with first-degree blood relatives (parents, siblings, and adult children), as they each have up to a 50 percent chance of carrying the same variant and may benefit from targeted cascade testing.
variant of uncertain significance (VUS) indicates that a change in your DNA was identified, but medical science currently lacks sufficient evidence to determine whether it is harmless or disease-causing. Clinicians typically recommend against making permanent medical or surgical decisions based solely on a VUS. As genetic databases grow and more individuals are tested, laboratories frequently reclassify these variants as either benign or pathogenic. Check with your genetic counselor periodically for updates.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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