

MEDICAL ENCYCLOPEDIA
National Institutes of Health
New on the MedlinePlus Genetic Testing page:
Genetic tests are tests on blood and other tissue to find genetic disorders. Over 2000 tests are available. Doctors use genetic tests for several reasons. These include
- Finding genetic diseases in unborn babies
- Finding out if people carry a gene for a disease and might pass it on to their children
- Screening embryos for disease
- Testing for genetic diseases in adults before they cause symptoms
- Making a diagnosis in a person who has disease symptoms
- Figuring out the type or dose of a medicine that is best for a certain person
People have many different reasons for being tested or not being tested. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In some cases, there is no treatment. But test results might help a person make life decisions, such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing.
NIH: National Human Genome Research Institute
- Direct-to-Consumer Genetic Tests (Federal Trade Commission)Also in Spanish
- Genetics Home Reference
(National Library of Medicine)
- Genomic Testing (Centers for Disease Control and Prevention)
- How Can Consumers Be Sure a Genetic Test Is Valid and Useful?
(National Library of Medicine)
- How Is Genetic Testing Done?
(National Library of Medicine)
- Personalized Medicine and Pharmacogenomics (Mayo Foundation for Medical Education and Research)Also in Spanish
- Studying Genes
(National Institute of General Medical Sciences)
- What Are the Risks and Limitations of Genetic Testing?
(National Library of Medicine)
- What Do the Results of Genetic Tests Mean?
(National Library of Medicine)
- What Is a Pediatric Geneticist? (American Academy of Pediatrics)Also in Spanish
- What Is Direct-to-Consumer Genetic Testing?
(National Library of Medicine)
- BRCA Test
(National Library of Medicine)Also in Spanish
- BRCA1 and BRCA2 Mutations (American College of Obstetricians and Gynecologists) - PDF
- BRCA1 and BRCA2: Cancer Risk and Genetic Testing
(National Cancer Institute)Also in Spanish
- Genetic Testing for Hereditary Cancer Syndromes
(National Cancer Institute)
- Genetic Testing for Hereditary Colorectal Cancer (Centers for Disease Control and Prevention)Also in Spanish
- Genetic Testing for Inherited Heart Disease (American Heart Association)
Pharmacogenetic Tests
(National Library of Medicine)Also in Spanish
- Prenatal Genetic Diagnostic Tests (American College of Obstetricians and Gynecologists)
- Prenatal Genetic Screening Tests (American College of Obstetricians and Gynecologists)
- Prenatal Genetic Testing Chart
(American College of Obstetricians and Gynecologists) - PDF
- What Are the Types of Genetic Tests?
(National Library of Medicine)
- What Is Genetic Ancestry Testing?
(National Library of Medicine)
- Genetic Mapping
(National Human Genome Research Institute)Also in Spanish
- ClinicalTrials.gov: Genetic Testing
(National Institutes of Health)
- Genetic Testing Registry
(National Center for Biotechnology Information)
- Genomics and Health Impact Update (Centers for Disease Control and Prevention)
- Glossary
(National Center for Biotechnology Information)
- Talking Glossary of Genetic Terms
(National Human Genome Research Institute)Also in Spanish
- BRCA1 and BRCA2 gene testing (Medical Encyclopedia)Also in Spanish
- Genetic testing and your cancer risk (Medical Encyclopedia)Also in Spanish
- Genetic Testing: What It Means for Your Health and Your Family's Health
(National Institutes of Health) - PDF
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