Genetic Testing

Genetic testing (also called DNA-based tests) is among the newest and most sophisticated of techniques used to test for genetic disorders which involves direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic examination of stained or fluorescent chromosomes. Genetic tests are used for several reasons, including:

  • identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed, these are some examples:
  • preimplantation genetic diagnosis (see the side bar, Screening Embryos for Disease)
  • prenatal diagnostic testing
  • newborn screening
  • Genealogical DNA test (for genetic genealogy purposes)
  • presymptomatic testing for predicting adult-onset disorders such as Huntington's disease
  • presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer's disease
  • confirmational diagnosis of a symptomatic individual
  • forensic/identity testing

Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a child's paternity (genetic father) or a person's ancestry. Normally, every person carries two copies of every gene (with the exception of genes related to sex-linked traits, which are only inherited from the mother by males), one inherited from their mother, one inherited from their father. The human genome is believed to contain around 20,000 - 25,000 genes. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the possible presence of genetic diseases, or mutant forms of genes associated with increased risk of developing genetic disorders. Genetic testing identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. 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. Several hundred genetic tests are currently in use, and more are being developed.

Since genetic testing may open up ethical or psychological problems, genetic testing is often accompanied by genetic counseling.

Read more about Genetic Testing:  Types, Medical Procedure, Risks and Limitations, Direct-to-Consumer Genetic Testing, Government Regulation in The United States, In Popular Culture

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