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The genetic consultation serves to recognize, assign and diagnose genetically caused or co-caused diseases. If a genetic disease is present, its course, any necessary preventive measures or special treatment strategies, as well as the pattern of inheritance and risk of recurrence are explained to the patient or their parents or guardians.
Genetic counseling serves to inform affected patients or their relatives about a genetic disease, i.e. about its cause, inheritance, possibilities of treatment and prevention, as well as prenatal and predictive diagnostic possibilities.
In the genetic consultation for the clarification of a possible genetic disease, an effort is made to find the cause of a physical or mental developmental disorder. For this purpose, all available documents (maternity passport, health records, doctor's letters from hospitalizations, etc.) are required.
After a questioning about illnesses in the family ("pedigree analysis"), a physical examination of the patient is carried out. Special attention is paid to small anomalies, e.g. in the shape of the ears, eyes or fingers, as these often point the way to an explanation of the cause. If the examination gives an indication of a genetic disease, this can be verified in certain cases by a gene analysis, usually from a blood sample.
It is often advantageous to include blood samples from the parents in the analysis for comparison. If the cause of a disease has been found, the patient and/or his parents can be informed about what to observe or expect with the respective disease and whether and how it can recur in the family and what possibilities there are for treatment or prenatal detection.
