Before genetic counselling, the disease should absolutely be diagnosed. For this reason by a genetic specialist, the story of the family must be learnt and a pedigree (family tree) be drawn. During this period the father and the mother of the patient must be founded, and the information must be directly obtained from them. All the family must be checked. After all these studies, to be able to diagnose the disease, chromosome analysis, DNA analysis, enzyme analysis etc. tests can be needed.

By taking into account that the number of the patients are around 10.000 and genetic tests can only be identified after the diagnosis of both the patient and the people who carries the disease, it is easily understood how important The clinic genetics area is. Therefore the patients who apply to our clinic are to be consulted by a genetic specialist before genetic tests. These patient are checked, are obtained their family history, are defined the pedigree if needed.