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<h1>What is genetic testing?</h1>
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<section><div class="mp-content"><p>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.</p>
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<p>Genetic testing involves looking for changes in:</p>
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<ul><li>
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<strong>Genes</strong>: 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). </li>
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<li>
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<strong>Chromosomes</strong>: 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.</li>
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<li>
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<strong>Proteins</strong>: 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.<br/>
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</li></ul><p>Genetic testing is voluntary. Because testing has <a data-pid="20235" href="https://medlineplus.gov/genetics/understanding/testing/benefits/">benefits </a>as well as <a data-pid="20237" href="https://medlineplus.gov/genetics/understanding/testing/riskslimitations/">limitations and risks</a>, the decision about whether to be tested is a personal and complex one. A <a data-pid="20211" href="https://medlineplus.gov/genetics/understanding/consult/findingprofessional/">geneticist or genetic counselor</a> can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.</p></div>
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<section><div class="side-section"><div class="mp-content"><div class="section-header long-header">
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<h2>For general information about genetic testing:</h2>
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<p>MedlinePlus offers a list of links to <a href="https://medlineplus.gov/genetictesting.html" target="_blank">information about genetic testing</a>.<span class="desc-text"><img alt="From the National Institutes of Health" class="imgdesc" height="16" src="https://medlineplus.gov/images/nih.png" title="From the National Institutes of Health" width="25"/></span></p>
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<p>The <a href="https://www.ncbi.nlm.nih.gov/gtr/">Genetic Testing Registry</a> is a service from the National Library of Medicine that provides a searchable database of genetic tests that have submitted by providers and laboratories.<span class="desc-text"><img alt="From the National Institutes of Health" class="imgdesc" height="16" src="https://medlineplus.gov/images/nih.png" title="From the National Institutes of Health" width="25"/></span></p>
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<p>The National Human Genome Research Institute provides an overview of this topic in its <a href="https://www.genome.gov/FAQ/Genetic-Testing">Frequently Asked Questions About Genetic Testing</a>. Additional information about <a href="https://www.genome.gov/about-genomics/policy-issues/Regulation-of-Genetic-Tests" target="_blank">genetic testing legislation, policy, and oversight</a> is available from the Institute.<span class="desc-text"><img alt="From the National Institutes of Health" class="imgdesc" height="16" src="https://medlineplus.gov/images/nih.png" title="From the National Institutes of Health" width="25"/></span></p>
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<p>You can also search for clinical trials involving genetic testing. <a href="https://clinicaltrials.gov/" target="_blank">ClinicalTrials.gov</a>, a service of the National Institutes of Health, provides easy access to information on clinical trials. You can search for specific trials or browse by condition or trial sponsor. You may wish to refer to a list of <a href="https://clinicaltrials.gov/search?term=%22genetic+testing%22" target="_blank">studies related to genetic testing</a> that are accepting (or will accept) participants.<span class="desc-text"><img alt="From the National Institutes of Health" class="imgdesc" height="16" src="https://medlineplus.gov/images/nih.png" title="From the National Institutes of Health" width="25"/></span></p>
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<section><div class="mp-exp mp-content"><h2>Topics in the Genetic Testing chapter</h2>
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<ul><li>What is genetic testing?</li><li><a data-pid="31121" href="https://medlineplus.gov/genetics/understanding/testing/types/">What are the different types of genetic tests?</a></li><li><a data-pid="20221" href="https://medlineplus.gov/genetics/understanding/testing/uses/">What are the uses of genetic testing?</a></li><li><a data-pid="20223" href="https://medlineplus.gov/genetics/understanding/testing/procedure/">How is genetic testing done?</a></li><li><a data-pid="20225" href="https://medlineplus.gov/genetics/understanding/testing/informedconsent/">What is informed consent?</a></li><li><a data-pid="20227" href="https://medlineplus.gov/genetics/understanding/testing/validtest/">How can I be sure a genetic test is valid and useful?</a></li><li><a data-pid="20229" href="https://medlineplus.gov/genetics/understanding/testing/interpretingresults/">What do the results of genetic tests mean?</a></li><li><a data-pid="20231" href="https://medlineplus.gov/genetics/understanding/testing/costresults/">What is the cost of genetic testing, and how long does it take to get the results?</a></li><li><a data-pid="20233" href="https://medlineplus.gov/genetics/understanding/testing/insurancecoverage/">Will health insurance cover the costs of genetic testing?</a></li><li><a data-pid="20235" href="https://medlineplus.gov/genetics/understanding/testing/benefits/">What are the benefits of genetic testing?</a></li><li><a data-pid="20237" href="https://medlineplus.gov/genetics/understanding/testing/riskslimitations/">What are the risks and limitations of genetic testing?</a></li><li><a data-pid="20239" href="https://medlineplus.gov/genetics/understanding/testing/discrimination/">What is genetic discrimination?</a></li><li><a data-pid="20241" href="https://medlineplus.gov/genetics/understanding/testing/genepatents/">Can genes be patented?</a></li><li><a data-pid="31501" href="https://medlineplus.gov/genetics/understanding/testing/differenttests/">How are genetic screening tests different from genetic diagnostic tests?</a></li><li><a data-pid="20243" href="https://medlineplus.gov/genetics/understanding/testing/researchtesting/">How does genetic testing in a research setting differ from clinical genetic testing?</a></li><li><a data-pid="20245" href="https://medlineplus.gov/genetics/understanding/testing/sequencing/">What are whole exome sequencing and whole genome sequencing?</a></li><li><a data-pid="20247" href="https://medlineplus.gov/genetics/understanding/testing/secondaryfindings/">What are secondary findings from genetic testing?</a></li><li><a data-pid="20249" href="https://medlineplus.gov/genetics/understanding/testing/nipt/">What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?</a></li><li><a data-pid="20251" href="https://medlineplus.gov/genetics/understanding/testing/circulatingtumordna/">What is circulating tumor DNA and how is it used to diagnose and manage cancer?</a></li></ul>
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<p><a data-pid="20081" href="https://medlineplus.gov/genetics/understanding/">Other chapters in Help Me Understand Genetics</a></p></div>
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</section>
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