Adult genetic testing
Discovering hereditary conditions and designing treatment.
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.
We provide a variety of adult genetic services and 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.
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 evaluate
Genetic conditions we routinely evaluate include:
- Arrhythmias
- Cardiomyopathies
- Congenital abnormalities (birth defects)
- Ehlers Danlos syndrome
- Fabry disease
- Gaucher disease
- Huntington’s disease
- Marfan syndrome
- Adult intellectual disabilities
- 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.
Tests and treatments
History and physical examination
The genetics consultation will include a review of your personal and family medical histories by the genetic counselor, along with 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.
Adult genetics research
Our areas of active research are focused primarily on adults and include:
- Adult intellectual disabilities.
- Chronic obstructive pulmonary disease.
- Hereditary cardiomyopathies.
- Lysosomal storage disorders.
- Pharmacogenetics (how genetics influences response to medications).
- Polycystic kidney disease.
- Pulmonary hypertension.
- Rare genetic disorders.
