At University Genetics our board-certified medical geneticist provides general genetics consultation. We offer:
- Diagnostic and genetic counseling services
- Management recommendations for children and adults who are affected by, have a family history of, or are suspected of having a genetic condition
The Benefits of a Genetic Evaluation
The benefits of genetic evaluation and testing (if appropriate) include the ability to:
- Identify risk of disease for patients and their family members
- Reevaluate undiagnosed adult patients using new testing not available in their childhood years
- Alter clinical management
- Shorten the time to diagnosis and prevent misdiagnoses
- Determine if patients are eligible to participate in clinical trials
- Provide information about support resources such as patient advocacy organizations, disability
University Genetics: Common Conditions We See
Conditions we commonly see include:
- Cardiovascular genetics
- Inherited arrythmias: Long QT Brugada
- Arrhythmogenic ventricular cardiomyopathy (ARVC)
- Dilated (DCM) or hypertrophic cardiomyopathy (HCM)
- Familial Thoracic Aortic aneurysms and dissections (TAAD)
- Connective tissue disorders such as Marfan syndrome
- Familial hypercholesterolemia
- Neurogenetics
- Hereditary neuropathies: Charcot Marie Tooth
- Hereditary Ataxias and movement disorders: Dystonia
- Early onset dementias: Alzheimer, Frontotemporal dementia (FTD), CADISIL, Huntington
- Neurofibromatosis, Tuberous sclerosis
- Neuromuscular disorders: SMA, inherited muscular dystrophies, ALS
- Seizures of unknown cause
- Early onset hearing loss
- Hereditary vision loss: Retinitis pigmentosa and related disorders
- Familial periodic fevers
- Polycystic kidney disease (ADPKD)
- Alpha 1 Antitrypsin
- Dysmorphology and chromosome disorders
- Intellectual disability (including mild ID) and/or autism with or without physical abnormalities/dysmorphic features including those with last test date >3-5 years age
To learn more, or to schedule an appointment, please contact us.