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Genetic testing involves analyzing a person's DNA, chromosomes, or proteins to identify changes (mutations or variants) associated with inherited medical conditions or disease risks.
Key Aspects & Recent Updates:
Purpose:
Diagnostic: Confirming a condition in a person with symptoms (e.g., Cystic Fibrosis).
Predictive/Presymptomatic: Identifying a genetic risk for a disease before symptoms appear (e.g., inherited cancer risk like BRCA1/2).
Carrier Screening: Determining if parents can pass a condition to their children.
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