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Genetic Testing

Genetic research is leading to the emergence of more genetic tests that can be used to diagnose genetic diseases. Genetic testing is available for infants, children and adults. Genetic tests can be used both to diagnose diseases in a person who has the first symptoms and to help determine the risk of developing a certain disease (or many diseases at the same time). Adults can undergo preliminary testing before conceiving a child, and during pregnancy, prenatal diagnosis can be performed. The results of genetic testing can help doctors choose appropriate treatments for their patients, as well as take early prevention measures.

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Glossary of terms

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Groups of genetic diseases

Diseases of protein metabolism    Autosomal Dominant Disorder    Autosomal recessive diseases    Chromosome syndromes    Diseases inoculated with the X-chromosome    Diseases of carbohydrate metabolism    Diseases of lipid metabolism    Polygenic diseases