Adult Genetics: Tests & Treatments at University of Colorado Hospital

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 by Dr. Matthew Taylor.  It is helpful if you prepare in advance of the visit to discuss your family history (i.e. speak with your relatives, collect medical records from relatives, or even draw your own family history.) 

At the end of the 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 2-4 weeks following the visit.

Genetic Testing

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 frequently will approach your insurance plan to assess predetermination 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.