Adult genetic testing

Discovering hereditary conditions and designing treatment.

Our genetics specialists at UCHealth in metro Denver serve the needs of patients and their families affected by genetic conditions. Our goal is to work with you and your primary care physician to diagnose and manage your genetic condition.

Our adult genetic services

We provide a variety of adult genetic services including:

  • Diagnosis of genetic conditions
  • Genetic consultation
  • Genetic counseling
  • Genetic testing
  • Genetic condition management

Genetic conditions we routinely evaluate include:

  • Arrhythmias
  • Cardiomyopathies
  • Congenital abnormalities (birth defects)
  • Ehlers Danlos syndrome
  • Fabry disease
  • Gaucher disease
  • Huntington’s disease
  • Marfan syndrome
  • Mental retardation
  • Muscular dystrophies
  • Neurofibromatosis
  • Pompe disease
  • Thrombosis
  • Tuberous sclerosis

We also evaluate healthy individuals who are concerned about their risk (or their children’s risk) of a genetic condition that is present in another family member.

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

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.

Our areas of active research are focused primarily on adults and include:

  • Adult mental retardation
  • Chronic obstructive pulmonary disease
  • Hereditary cardiomyopathies
  • Lysosomal storage disorders
  • Pharmacogenetics (how genetics influences response to medications)
  • Polycystic kidney disease
  • Pulmonary hypertension
  • Rare genetic disorders