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Genetic Testing
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Presymptomatic Diagnosis

Presymptomatic Diagnosis

Indivisuals who are known to be at risk for a disorder can be tested (generally bcz of a (+)ve family history.

To determine whether they have inherited a disease-causing mutation before they develop clinical symptoms of the disorder.

Ex: Huntington Disease, adult polycystic kidney disease, hemochromatosis & autosomal dominant breast cancer.

Slide 11

Advantage of Presymptomatic Diagnosis

Advantage of Presymptomatic Diagnosis

Can aid in making reproductive decisions.

Can provide reassurance to those who learn that they do @ do not carry a disease-causing mutation.

Early diagnosis may improve health supervision.

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