Genetic studies allow us to find out which mutations are responsible for a patient's particular hereditary disease. A person's full genetic information is stored in the DNA of their cells. To detect these mutations, it's necessary to use sophisticated DNA analysis techniques. Normally, it is enough to draw a sample of blood from the patient, like when we take a conventional blood sample.
The genetic study will be used both to confirm the clnical diagnosis and to inform the rest of the family about whether they are healthy, carriers or affected by the disease. In addition, those relatives that have a genetic mutation could also find out if they are at risk of passing the disease to their offspring.