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Genetic testing and genetic screening 

Genetic testing and genetic screening
Chapter:
Genetic testing and genetic screening
DOI:
10.1093/med/9780199559688.003.0052
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date: 15 October 2019

Genetic testing and genetic screening 76

Genetic testing 78

Genetic screening 83

There are fundamental differences in genetic testing and genetic screening. However, in practice these terms are used interchangeably with often confusing interpretations.

Genetic testing refers to the testing a healthy individual from a family affected with an inherited condition where the specific pathogenic genetic change, such as a chromosomal abnormality or a disease-causing change or variation in the nucleic acid sequence (gene), is already known....

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