The genetic test is indicated upon suspicion of the disease:
- It is part of the diagnostic criteria of the disease as well as an important tool for differential diagnosis.
- A correct diagnosis of the disease allows for appropriate risk stratification. In addition, the identification of certain types of mutations in some genes provides prognostic information in carriers.
- The test has a predictive value for the disease when a pathogenic mutation is found. It is very important for genetic counseling and useful for familial monitoring. It allows identifying the carriers at risk of developing the disease, who must follow appropriate clinical monitoring. It is worth noting that the disease has variable expressivity and penetration, with the presence of additional genetic and/or environmental factors being important in many cases.