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URMC / Medicine / Genetics / Patient Care
 

Patient Care

We provide diagnostic genetic evaluations for adults with known or suspected genetic conditions. Genetic counseling, coordination of medical care, and often genetic testing, are fundamental aspects of this clinic.

We provide clinical services in the following areas:

Adult Cardiogenetics

This includes patients who have or may be at risk for a hereditary cardiovascular condition. Common conditions for which genetic evaluation is available include:

  • Cardiomyopathies such as hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), left ventricular non-compaction cardiomyopathy (LVNC), restrictive cardiomyopathy, and familial amyloidosis
  • Known or suspected heritable arrhythmia syndromes such as Long QT syndrome, Brugada syndrome, Catecholaminergic polymorphic ventricular tachycardia (CPVT), and Short QT syndrome
  • Hereditary connective tissue disorders such as Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome
  • Familial aortic aneurysms and dissections
  • Familial congenital heart defects
  • Familial hypercholesterolemia or other suspected hereditary lipid disorder

Adult General Genetics

Evaluation for a wide range of genetic conditions is available. This includes, but is not limited to:

  • Chromosome disorders
  • Mitochondrial disorders
  • Hereditary kidney disorders
  • Hearing loss and deafness
  • Retinitis pigmentosa and Usher syndrome
  • Periodic fever syndromes such as Familial Mediterranean Fever
  • Ehlers-Danlos syndrome
  • Skeletal dysplasias
  • Neuromuscular disorders such as Charcot-Marie-Tooth (CMT) diseases and muscular dystrophies
  • Neurofibromatosis and Schwannomatosis
  • Other tumor syndromes such as Von Hippel-Lindau syndrome, Multiple Endocrine Neoplasia, and hereditary paraganglioma-pheochromocytoma syndromes
  • Vascular malformation syndromes such as Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease), Familial Cerebral Cavernous Malformation (CCM), and RASA1-related disorders