Frequently Asked Questions About Genetic Testing and Healthcare

Genetic research is leading to the development of more genetic tests that can be used for the diagnosis of genetic conditions. Genetic testing is available for infants, children, and adults. Genetic tests can be used to diagnose a disease in an individual with symptoms and to help measure risk of developing a disease. Adults can undergo preconception testing before deciding to become pregnant, and prenatal testing can be performed during a pregnancy. Results of genetic tests can help physicians select appropriate treatments for their patients.

Common types of Genetic tests include:

  • Gene tests (individual genes or relatively short lengths of DNA or RNA are tested)
  • Chromosomal tests (whole chromosomes or very long lengths of DNA are tested)
  • Biochemical tests (protein levels or enzyme activities are tested)

Genetic tests look for alterations in a person’s genes or changes in the level or structure of key proteins coded for by specific genes. Genetic tests can also be used to look at levels of RNA that play a role in certain conditions. Abnormal results on these tests could mean that someone has a genetic disorder.

Read the full article from the National Human Genome Research Institute here:


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