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Clinical Genetics

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  • Clinical genetic testing refers to the laboratory analysis of DNA or RNA to aid in the diagnosis of disease. Genetic testing can provide definitive diagnosis as well as help predict the likelihood of developing a particular disease before symptoms even appear.
  • Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek.
  • Clinical geneticists must continually take account of new discoveries that alter clinical practice. They have an important role to play in public education and debates about ethical issues arising from new developments in the clinical application of genetic knowledge.

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