Genetic Testing Summary 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 National Human Genome Research Institute Array BRCA1 and BRCA2 gene testing Genetic testing and your cancer risk Specifics BRCA1 and BRCA2 Mutations American College of Obstetricians and Gynecologists BRCA1 and BRCA2: Cancer Risk and Genetic Testing National Cancer Institute Genetic Testing for Hereditary Cancer Syndromes National Cancer Institute Genetic Testing for Hereditary Colorectal Cancer Centers for Disease Control and Prevention Genetic Testing for Inherited Heart Disease American Heart Association Pharmacogenomic Testing Genetic Alliance Predictive Testing Genetic Alliance Tests Related to Pregnancy Genetic Alliance What Are the Types of Genetic Tests? National Library of Medicine What Is Carrier Screening? Genetic Alliance What Is Diagnostic Testing? Genetic Alliance What Is Genetic Ancestry Testing? National Library of Medicine Encyclopedia Buccal smear Find an Expert Cancer Genetics Services Directory National Cancer Institute Centers for Disease Control and Prevention Centers for Disease Control and Prevention Genetic Alliance Genetic Alliance Genetic and Rare Diseases Information Center Genetic and Rare Diseases Information Center National Human Genome Research Institute National Human Genome Research Institute Clinical Trials ClinicalTrials.gov: Genetic Testing National Institutes of Health Statistics and Research Detecting Rare Disease-Causing Glitches National Institutes of Health Genetic Mapping National Human Genome Research Institute Related Issues Direct-to-Consumer Genetic Tests Federal Trade Commission 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 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 What Is Direct-to-Consumer Genetic Testing? National Library of Medicine Whole Genome Sequencing Genetic Alliance Start Here Frequently Asked Questions about Genetic Testing National Human Genome Research Institute Genetic Testing (For Parents) Nemours Foundation Genetic Testing: What You Should Know American Academy of Family Physicians Regulation of Genetic Tests National Human Genome Research Institute NIH MedlinePlus Magazine Future of Personalized Medicine Patient Handouts Genetic Testing: What It Means for Your Health and Your Family’s Health National Institutes of Health Reference Desk 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 Journal Articles Genetic Testing Latest News New Test Helps Identify Rare Genetic Diseases in Newborns HealthDay Gene Test May Spare Some Breast Cancer Patients from Chemo HealthDay Genetic Tests May Not Change People’s Unhealthy Ways HealthDay Genetic Insights May Help Kids Battling Developmental Delays HealthDay Many Breast Cancer Patients May Not Need Chemo HealthDay Two Genes May Raise Odds for Fraternal Twin Pregnancies HealthDay Researchers Find 8 Immune Genes in Aggressive Brain Cancer HealthDay