Clinical Genetics & Metabolism
Clinical Genetics & Metabolism at UVM Health
Genetic conditions occur as a result of an inherited change (mutation) in DNA. There are multiple types of genetic diseases that can affect you in different ways.
Starting the process of genetic testing can be overwhelming. At University of Vermont Health, our geneticists, genetic counselors and metabolic dietitians work together to provide compassionate, comprehensive care. We bring you and your family our expertise and are closely connected with genetics experts across the world.
Why Choose UVM Health?
We offer:
- Specialized skills and treatment: Our geneticists have specialized training in advanced therapies, such as enzyme replacement for metabolic disorders. We help you understand what a diagnosis means for you.
- Convenient access: We use digital health as much as possible to provide convenient, accessible care. We can often review test results and provide genetic counseling in virtual visits.
- Established expertise: As part of a health system anchored by an academic medical center, many of our physicians are active researchers. We are members of national organizations supporting research that has international impact.
Genetics Services
Our geneticists care for you in multiple ways, including through our:
Most of our patients with potential or diagnosed genetic conditions are treated at our outpatient clinic or through telemedicine services. We offer physical exams, genetic counseling, diagnosis and management for a range of genetic disorders.
Patients with genetic disorders that interfere with how their bodies turn food into energy are diagnosed and treated at our Metabolic Clinic.
We treat metabolic defects in a variety of ways. Treatment may include diet, medications and enzyme replacement therapy, a specialized treatment not widely available elsewhere in our region.
We offer genomic sequencing when you are in the hospital if you are suspected of having a genetic disorder.
As part of Golisano Children's Hospital at University of Vermont Health, our pediatric clinical geneticists provide care and testing to children and their family to help us understand what gene changes cause these conditions and guide treatment plans. We coordinate care with other pediatric specialists as needed, such as Child Life specialists and our Craniofacial Clinic.
What to Expect with Genetic Testing
When you schedule an appointment with our genetics team, one of our genetic counselors will call you to discuss what to expect. They will ask about your needs, family history and concerns.
During your visit, a genetics physician will:
- Review patient and family medical histories
- Physically examine you
- Discuss findings with you and recommend possible tests and next steps.
We work with insurance providers and genetic testing labs to identify the most appropriate, cost-effective tests for you. Our goal is to provide you with all the necessary information for you to make the most informed decisions about your care.
When we receive the results of genetic testing, we will call or schedule a visit to discuss test results and what they mean for you and your family.
Locations near you
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111 Colchester Avenue
Main Campus, East Pavilion, Level 4
Burlington, VT 05401-1473