Genetics

What is genetic testing?

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, 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 1,000 genetic tests are currently in use, and more are being developed.

Several methods can be used for genetic testing:

• Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder.
• 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.
• Biochemical genetic tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in a genetic disorder. 

Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.

Read more from the Genetics Home Reference from the National Library of Medicine.

• Recommended Links

  • Genetics Home Reference - Genetics Home Reference/National Library of Medicine
  • Importance of Gathering a Family History - American Medical Association
  • KidsHealth for Parents: An Introduction to Genetics and Genetic Testing - KidsHealth/Nemours Foundation's Center for Children's Health Media
  • Questions and Answers About Gene Therapy - National Cancer Institute
  • Glossary of Genetic Terms - National Human Genome Research Institute
  • JAMA Patient Page: Genetics: The Basics - Journal of the American Medical Association
  • MedlinePlus: Genetics/Birth Defects Topics - National Library of Medicine
  • New Genetics - National Institute of General Medical Sciences
  • Six Things Everyone Should Know About Genetics - American Society of Human Genetics
  • Your Genes, Your Health - Dolan DNA Learning Center

• Recommended Links on Genetic Testing

  • At-Home Genetics Tests - Federal Trade Commission
  • Baby's First Test - Genetic Alliance
  • BRCA1 and BRCA2: Cancer Risk and Genetic Testing - National Cancer Institute
  • Coverage and Reimbursement of Genetic Tests - National Human Genome Research Institute
  • Direct-to-Consumer Genetic Testing - National Library of Medicine
  • Frequently Asked Questions about Genetic Testing - National Human Genome Research Institute
  • GeneTests - National Institutes of Health
  • Genetic Testing - MayoClinic.com
  • Genetic Testing - National Human Genome Research Institute
  • Genetic Testing: How It Is Used for Healthcare - National Institutes of Health
  • Genetic Testing for Hereditary Colorectal Cancer - Centers for Disease Control and Prevention
  • Genetic Testing: What It Means for Your Health and Your Family's Health - National Cancer Institute
  • Looking at My Genes: What Can They Tell Me? - National Institute of Mental Health
  • MedlinePlus: Genetic Testing/Counseling - National Library of Medicine
  • MedlinePlus: Newborn Screening - National Library of Medicine
  • Newborn Screening - Centers for Disease Control and Prevention
  • Ordering Genetic Testing - National Center for Biotechnology Information
  • Parentage Testing - American Association for Clinical Chemistry
  • Preconception: Genetic Testing for Inherited Diseases - American Association for Clinical Chemistry
  • Pregnancy and Prenatal Testing - American Association for Clinical Chemistry
  • Recommended Newborn Screening Tests - March of Dimes Birth Defects Foundation
  • Studying How Your Genes Can Make a Difference - National Institute of General Medical Sciences
  • Surreptitious DNA Testing - Genetics and Public Policy Center
  • Tests Purchased From Four Sites Mislead Consumers - General Accounting Office
  • Understanding Gene Testing - National Cancer Institute
  • What is Genetic Ancestry Testing? - Genetics Home Reference/National Library of Medicine
  • What is Genetic Testing? - Genetics Home Reference/National Library of Medicine
  • Who Regulates Genetic Tests? - Genetics and Public Policy Center

• Recommended Links on Gene Therapy

  • From Genes to Personalized Medicine - National Institutes of Health
  • Gene Therapy - MayoClinic.com 
  • Gene Therapy Terminology - American Society of Gene Therapy
  • Gene Therapy Trials - ClinicalTrials.gov
  • Genetics Home Reference: What is gene therapy? - National Library of Medicine
  • Human Gene Therapy - Food and Drug Administration
  • KidsHealth for Parents: Gene Therapy and Your Child - KidsHealth/Nemours Foundation's Center for Children's Health Media
  • Medicines for You: Studying How Your Genes Can Make a Difference - National Institute of General Medical Sciences
  • MedlinePlus: Genes and Gene Therapy - National Library of Medicine
  • New Genetics - National Institute of General Medical Sciences
  • Personalized Medicine - MayoClinic.com
  • Personalized Medicines Fact Sheet - National Institute of General Medical Sciences
  • Six Things Everyone Should Know About Genetics - American Society of Human Genetics
  • What Is Proteomics? - National Cancer Institute
  • Your Genes, Your Health - Dolan DNA Learning Center

• Páginas de Web Recomendadas

  • Enfermedades Genéticas - Children's Hospitals and Clinics of Minnesota
  • Genética al Alcance de Todos – LaGenetica.info
    
  • Genética: Aspectos Básicos - Revista de la American Medical Association
    
  • Genoma: El Mapa de la Vida - El Mundo (España)
    
  • Glosario Hablado de Términos Genéticos - Instituto Nacional de Investigación del Genoma Humano
    
  • Jóvenes: Fundamentos de los Genes y de las Anomalías Genéticas - KidsHealth/Centro de Medios de Información para la Salud Infantil de la Fundación Nemours
    
  • Niños: Genética - KidsHealth/Centro de Medios de Información para la Salud Infantil de la Fundación Nemours
    
  • Padres: Consejo Genético - KidsHealth/Centro de Medios de Información para la Salud Infantil de la Fundación Nemours
    
  • Pruebas Genéticas: Lo Que Usted Debería Saber - Academia Estadounidense de Médicos de Familia
    
  • ¿Qué Es la Genética? - Nacer Sano (March of Dimes)
    
  • Video: Genética - Puleva Salud (España)
    
  • Video: Pruebas Genéticas - Healthy Roads Media
  • Amniocentesis: Cómo Se Hace y Qué Riesgos Tiene - BabyCenter en Español
  • Amniocentesis Genética - NetDoctor (España)
    
  • Análisis de Vellosidades Coriónicas (Biopsia de Corión) - BabyCenter en Español
    
  • Asesoramiento Genético - Babysitio (Argentina)
    
  • Centro de Información sobre Enfermedades Genéticas y Raras - Departamento de Salud y Servicios Humanos de los EE.UU.
    
  • Consejo Genético - Tu Otro Médico (España)
    
  • Cromosomas y Enfermedades - Instituto de Investigacion y Desarrollo Químico-Biologico (España)
    
  • Defectos Genéticos Fetales - Embarazada.com (Venezuela)
    
  • Diferencias entre Enfermedades Genéticas, Hereditarias y Congénitas en el Feto – ABC del Bebé (Colombia)
    
  • Enciclopedia Médica en MedlinePlus - Biblioteca Nacional de Medicina de EE.UU.
    
  • Enfermedades Raras - Orphanet (Europa)
    
  • Genes - University of Maryland Medical Center
  • Genética - DoctorPeru.com (Peru)
    
  • Genética - Manual Merck de Información Médica para el Hogar (Costa Rica)
    
  • Genética Médica - Comer Children’s Hospital/Centro Médico de la Universidad de Chicago
    
  • Genética: Noticias - Ediciones Farmavet, S.L. (España)
    
  • Genética Websites en Español – Proyecto del Genoma Humano
    
  • Genoma Humano - GeoSalud (Costa Rica)
    
  • healthfinder® en Español - Oficina de Prevención de Enfermedades y Promoción de la Salud y el  Centro Nacional de Información sobre la Salud de los EE.UU.
    
  • Leyendo el Libro de la Vida: Museo Interactivo Sobre la Genética y el ADN - Universitat Oberta de Catalunya/Fundación Española para la Ciencia y la Tecnología
    
  • Medicinas para Usted - Instituto Nacional de Ciencias Médicas Generales
    
  • MedlinePlus: Genética y Defectos Congénitos - Biblioteca Nacional de Medicina de EE.UU. desde los Institutos Nacionales de la Salud
    
  • Oficina Nacional de Genómica en Salud Pública - Centros para el Control y la Prevención de Enfermedades (CDC)
    
  • Protocolos de Genética/Dismorfología - Asociación Española de Pediatría (España)
    
  • Prueba Genética - HolaDoctor Referencia Médica de Healthwise/Univision
    
  • Pruebas Genéticas - KidsHealth/Centro de Medios de Información para la Salud Infantil de la Fundación Nemours
    
  • Pruebas Genéticas Basadas en la Etnia: Después de la Consulta - KaiserPermanente.org/Healthwise
    
  • Tener en Cuenta Tu Árbol Genealógico Cuando Intentas Concebir - BabyCenter en Español
    
  • Terapia Celular - Clínica Universidad de Navarra (España)
    
  • Trastornos Genéticos - Centro Nacional de Información sobre la Salud de la Mujer
    
  • Trastornos Genéticos - HolaDoctor Referencia Médica de Healthwise/Univision