Fig.3.

Close integration of clinical, biochemical, medical imaging, histopathological and genetic data for an integrated diagnosis. The whole process implies a great expertise in each disease/gene and in particular may require an expert molecular laboratory for final interpretation of sequence variants. The diagnosis may result in specific patient management including potential existing therapies, and should allow in any case genetic counselling within the family (carrier, predictive, prenatal or pre-implantation testing). Inclusion of data into molecular and clinical databases is a pre-requisite for patients recruitment in clinical trials and to allow development of research projects on the disease.