Molecular genetic confirmation of a suspected diagnosis often means the end to a year’s long odyssey in search of the cause of a medical condition. At the same time, it represents the starting point for more specific information about the progress and prognosis of the disease and for the optimal therapeutic intervention for the patient. Even if there is currently no known specific treatment available, knowledge of the etiology and mechanisms of disease can form the basis for a future treatment strategy or innovative treatment options. In addition, it provides information on the mode of inheritance and thus the probability of other family members inheriting the disease. This, therefore, gives concrete information regarding family planning and disease risk for current family members. An established diagnosis facilitates the reduction of bureaucratic obstacles, including applying for aids, rehabilitative, and nursing measures. It can also facilitate the communication with specialists, allowing for inclusion in clinical trials, support groups, access to specialized medical devices, or fast access to treatment options.