Genetics & Metabolism
Your body is powered by a complex network of genes and chemical processes. They help your body grow, heal and function every day. Most of the time, these systems work so well you don’t notice them. But sometimes, a change in your genes or metabolism — called a disorder or mutation — can cause problems. These changes can affect your body’s processes, causing them not to work as well as they should.
If you have a genetic or metabolic disorder or are suspected of having one, UK HealthCare can help. We offer comprehensive evaluation, treatment and genetic counseling across the life span.
Why choose UK HealthCare for genetics and metabolism services?
Your genes and metabolism play a role in nearly every part of your body. If you have symptoms that might be related to a genetic condition, it's natural to want answers — and a path forward. We're here to help you find both.
At UK HealthCare, we support you every step of the way. Our expert team works together to provide you with personalized care. This team includes providers, nurses, dietitians, laboratory specialists and genetic counselors. Using advanced genetic testing and the newest treatment options for both genetic and metabolic disorders, we’re committed to helping every patient live life to the fullest.
What to expect
To make an appointment with us, you’ll need a referral from your doctor. This helps us gather the right information and, when needed, request insurance authorization on your behalf. Once we’ve confirmed that authorization is approved — or if it’s not required — we’ll call you to set up your visit.
Please bring a driver’s license or valid ID, insurance cards, any relevant medical documentation, and legal documents, if applicable. Referrals ensure that your appointment is authorized by your insurance before it is scheduled. However, co-pays or additional out-of-pocket costs may still apply, depending on your insurance plan and coverage.
Please click here for questions about billing or financial assistance programs.
At your visit, you will see a doctor or nurse practitioner and a genetic counselor. You may also see other healthcare professionals such as residents, nurses, dietitians or social workers.
We will review your medical and family history and perform a physical exam. From there, we’ll work with you to create a care plan that fits your needs. Depending on the plan, we may or may not recommend lab work. Unless we tell you otherwise, genetic tests do not require fasting.
Family members are welcome to join your visit, but clinic rooms are small and typically hold only three or four people comfortably. Only individuals with scheduled appointments may be evaluated. If other family members need to be seen and evaluated, please let us know when you call so we can plan accordingly.
After your visit, your genetics provider will add a summary of your visit to your patient record. You can review these notes in MyChart, UK HealthCare’s online patient portal. You may also follow up with an in-person visit, a telehealth visit, or a phone call to review the results in more detail.
Your referring provider will also receive a summary of your visit. If we recommend any follow-up steps, we will talk those through with you and your referring provider. These may include additional blood tests, imaging studies, referrals and testing of other family members.
If we diagnose a genetic condition, we will provide information and resources for support. Often, we can go over this with you during a virtual visit. However, we may suggest an in-person follow-up for more detailed discussions and evaluations.
Treatments and services
Some conditions we evaluate and treat include:
- Autism
- Birth defects
- Cardiogenetic conditions
- Chromosomal disorders
- Disorders of sexual differentiation (Multidisciplinary clinic)
- Epilepsy
- Eye anomalies
- Genetic disorders
- Growth abnormalities
- Hearing loss
- Inborn errors of metabolism
- Lysosomal disorders
- Mitochondrial disorders
- Neurodevelopmental disorders
- Neuromuscular conditions
- Personalized medicine
- Skeletal dysplasia (Multidisciplinary clinic)
- Vascular anomalies
We offer robust diagnostic services along with a broad variety of treatment options. These range from life-saving dietary and metabolic interventions to a growing list of FDA-approved medicines for genetic conditions, including gene therapies. Some examples include achondroplasia, Duchenne muscular dystrophy, Fabry disease, hypophosphatasia, mucopolysaccharidoses, phenylketonuria, Pompe disease, Rett syndrome, spinal muscular atrophy (SMA), and X-linked hypophosphatemic rickets.
Please note: This is not a complete list of conditions we treat. Our genetics and metabolism team diagnoses any genetically based disorder, of which there are thousands. To ask about a specific condition, or for more details, please call us.
Referring a patient
To make a referral for an adult or pediatric patient, submit an order for “Ambulatory Referral to Pediatric Genetics” through UK HealthCare EpicCare Link or call UK•MDs at 800-888-5533. EpicCare Link is the preferred method for submitting online referrals.
The power of collaboration
We collaborate closely with other specialties across UK HealthCare. Many patients who come to our genetics team for answers are referred to us from the following areas:
