• 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 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

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.