- The genetic study confirms the clinical suspicion, and is itself an important tool in the differential diagnosis of the disease.
- The proper and correct diagnosis of the disease allows risk stratification. Some mutations in certain genes (for example LMNA) might provide prognosis information about the disease.
- This test has a predictive value of the disease when a pathogenic mutation is detected: It might be useful in genetic counseling. It allows detecting carriers at risk that should be under adequate clinical monitoring. The detection of non-carriers constitutes a cost-effective strategy, as they present a similar risk as the general population.