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- Services and providers for Genetic Testing in the U.S.
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National Institutes of Health
- The primary NIH organization for research on Genetic Testing is the National Human Genome Research Institute
Genetic Testing
Genetic tests are tests on blood and other tissue to find genetic disorders. About 900 such tests are available. Doctors use genetic tests for several reasons. These include
- Finding possible 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
- Confirming a diagnosis in a person who has disease symptoms
People have many different reasons for being tested or not being tested. For many, it is important to know whether a disease can be prevented or treated if a gene alteration is found. In some cases, there is no treatment. But test results might help a person make life decisions, such as career choice, family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing.
National Human Genome Research Institute
Start Here
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Genetic Testing: What You Should Know(American Academy of Family Physicians)
Also available in Spanish
- Genetics Home Reference: What is genetic testing?(National Library of Medicine)
| Basics | Learn More | Multimedia & Cool Tools |
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| Research | Reference Shelf | For You |
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Overviews
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Frequently Asked Questions about Genetic Testing
(National Human Genome Research Institute)
- Gene Testing(Human Genome Project)
- Genetic Testing(Nemours Foundation)
- Genetic Testing(Genetics and Public Policy Center)
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Frequently Asked Questions about Genetic Testing
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Latest News
- Chromosome Tests Help Study of Kids' Mental Anomalies(09/10/2008, HealthDay)
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NHGRI Seeks DNA Sequencing Technologies Fit for Routine Laboratory and Medical Use(08/20/2008, National Human Genome Research Institute)
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Prevention/Screening
- At-Home Genetic Tests: A Healthy Dose of Skepticism May Be the Best Prescription(Federal Trade Commission)
- Tests Purchased from Four Web Sites Mislead Consumers(Government Accountability Office)
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Related Issues
- ACMG Statement on Direct-to-Consumer Genetic Testing(American College of Medical Genetics)
- Ancilliary Services(University of Washington)
- Genetic Testing: Weigh Benefits and Risks(Mayo Foundation for Medical Education and Research)
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Genetics Home Reference(National Library of Medicine)
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Human Genetic Variation(National Institute of General Medical Sciences)
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Looking at My Genes: What Can They Tell Me?(National Institute of Mental Health)
- Ordering Genetic Testing(University of Washington)
- Parentage Testing(American Association for Clinical Chemistry)
- Pharmacogenomics: When Drug Treatment Becomes Personalized Medicine(Mayo Foundation for Medical Education and Research)
- Pregnancy: Genetic Testing for Inherited Diseases(American Association for Clinical Chemistry)
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Understanding Cancer Series: Gene Testing(National Cancer Institute)
Also available in Spanish
- Universe of Genetic Testing(American Association for Clinical Chemistry)
- Uses of Genetic Testing(University of Washington)
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What Is Direct-to-Consumer Genetic Testing?(National Library of Medicine)
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Clinical Trials
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ClinicalTrials.gov: Genetic Screening(National Institutes of Health)
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ClinicalTrials.gov: Genetic Screening
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Research
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Genetic Mapping(National Human Genome Research Institute)
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Genetic Testing: How It Is Used for Healthcare(National Institutes of Health) - Links to PDF
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Genetic Mapping
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Journal Articles
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: First- and second-trimester Down syndrome screening: current strategies and clinical...
- Article: Fluorescence in situ hybridization for prenatal screening of chromosomal aneuploidies.
- Article: Prenatal imaging: ultrasonography and magnetic resonance imaging.
- Genetic Testing -- see more articles
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Dictionaries/Glossaries
- Glossary(University of Washington)
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Talking Glossary of Genetic Terms(National Human Genome Research Institute) - Requires media player
Also available in Spanish
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Directories
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Cancer Genetics Services Directory(National Cancer Institute)
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Genetic and Rare Diseases Information Center(Office of Rare Diseases)
- Laboratory Directory-GeneReviews(University of Washington)
- US Clinic Directory Search(University of Washington)
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Cancer Genetics Services Directory
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Organizations
- GeneTests(University of Washington)
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National Human Genome Research Institute
- National Office of Public Health Genomics(Centers for Disease Control and Prevention)
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Newsletters/Print Publications
- Genomics & Health Weekly Update(Centers for Disease Control and Prevention)
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Law and Policy
- Direct-to-Consumer Genetic Testing: Empowering or Endangering the Public?(Genetics and Public Policy Center)
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Genetic Discrimination Nondiscrimination Act of 2008(National Human Genome Research Institute)
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Issues in Genetics and Health(National Human Genome Research Institute)
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Policy and Legislation Database(National Human Genome Research Institute)
- Reproductive Genetic Testing: What America Thinks(Genetics and Public Policy Center)
- Who Regulates Genetic Tests?(Genetics and Public Policy Center)
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Children
- Screening Tests for Newborns: Genetic Testing for Newborns at Increased Risk(American Association for Clinical Chemistry)
- What Is a Pediatric Geneticist?(American Academy of Pediatrics) - Links to PDF
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Date last updated: 11 September 2008 Topic last reviewed: 04 June 2008 |