The genetic testing is indicated in clinical practice guidelines upon suspicion of the disease:
- It allows confirming the clinical suspicion and is also an important tool for differential diagnosis of the disease.
- An adequate and correct diagnosis of the disease allows for risk stratification. The identification of the responsible mutation also provides prognostic information about the disease, with our group in the lead of this genetic field.
- The test has a predictive value for the disease when a pathogenic mutation is found. It then becomes the basis for genetic counseling, constituting a cost-effective strategy for family monitoring: carriers should undergo appropriate monitoring and risk stratification of the disease; non-carriers present the same risk as the general population.