Genetic counselling is a professional advise given by a genetic counseller about the risk of occurrence of a birth defect or a genetic disorder. The genetic counseller evaluates your personal or family history regarding congenital defects or genetic conditions and coordinates genetic testing, in order to determine your risk to have, develop or transmit a genetic disease.
If a genetic diagnosis has already been made previously, the counseller provides information on the disorder and determines the risk for you or family members to develop the disease. If necessary, genetic testing of you and/or appropriate family members will be suggested and coordinated.
If no genetic diagnosis was made before, the counseller will review the symptoms of the affected family member(s), suggest clinical and genetic tests to arrive to a genetic diagnosis, and discuss the genetic consequences with you.
A typical genetic counselling consists of:
1. First contact where you explain the problem and submit the necessary documentation