History and physical examination
The genetics consultation will include review of your personal and family medical histories by the genetic counselor and a physical exam. It is helpful if you prepare in advance of your visit to discuss your family history. Talk with your relatives and collect any medical records from them.
At the end of your visit, we will share our impression with you and discuss any additional recommendations for testing and/or evaluation. Both you and your referring physician will receive a summary letter 2 to 4 weeks following your visit.
Genetic testing is indicated in some of our patients. When recommended by the geneticist, we will determine which tests are needed and will discuss which are likely to be covered under your insurance plan. We will contact your insurance carrier to determine coverage of specific genetic tests before we collect your blood sample.
Treatment of lysosomal storage disorders
We provide management and coordination of enzyme replacement therapies for lysosomal storage disorders including Fabry, Gaucher, and Pompe diseases.