Visits to the Rasopathy Clinic will be more involved than a typical visit to your pediatrician or general physician. At minimum, you will meet with a genetic counselor and a geneticist. Depending on the day and location, you may also visit additional providers such as a cardiologist or a neurologist.
If you or your child has already had imaging or genetic testing, it is helpful to bring those records to your appointment.
A genetic counselor will meet with you to collect a detailed medical history including prenatal history, birth history, developmental history and family history. The genetic counselor will review information about the rasopathies and discuss the genetic testing process and possible test results.
A geneticist will perform a physical exam and give you information about the assessment. The geneticist will explain what next steps are recommended, such as imaging studies, laboratory testing and genetic testing. The geneticist may also recommend that you see additional specialists, for example in endocrinology, hematology and orthopedics, for additional evaluations.