Two-step testing

The genetic test is really two tests. The first is called diagnostic test, and the second predictive test.

• The diagnostic test goal is to identify the genetic abnormality (mutation) present in the family. Due to the test complexity, this can only be guaranteed in someone who already has or had the disease. If a mutation is identified, the next is a predictive test.

• This second step - the predictive test - looks for the identified mutation in healthy relatives so they can know if they have or have not inherited it.

These two tests represent different things:

  • While the second is a personal decision, the first, the diagnostic test, is indispensable to identify the familial cancer origin

Due to its two stages, the genetic test cannot be done in families where there are no relatives with cancer alive or willing to be tested.

If that is what occurs, ask your doctor if there are other options. There might exist the possibility of testing for a  founder mutation .

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