Before the application of genetic counselling, disease diagnosis must be definite and finalized. Therefore, a detailed family story and a pedigree should be constructed and by geneticist. During this construction stage; patient’s parents must certainly be found and data must be directly obtained from them. Children having disease and family members should be taken to the medical examination first. Following the completion of all these procedures, chromosome analysis, DNA analysis and enzyme activity level analysis might be required in order to characterize the disease.
Today approximately 10.000 different genetic diseases have been characterized so, it shows the importance of clinical genetics by which patients and and carriers can be precisely clarified after these diagnostic tests. Therefore, our applicants are first directed to our geneticists before the application of genetic tests. Later on, if it is necessary, patients are medically examined and subjected to family story and pedigree construction.