Penn Medicine Neuroscience Center: Neurogenetics Group

The Neurogenetics Group

The neurogenetics group provides diagnosis and management of individuals with neurogenetic disorders, applying the techniques of molecular diagnosis. Recent research advances have led to greater understanding of many hereditary and neurological diseases, and to the development of new diagnostic tools that can help you and your family. Our physicians have been instrumental in discovering the genetic basis for a variety of neurological disorders and, in many cases, have at their disposal genetic diagnostic tools that are not yet widely available.

Our center provides multidisciplinary management of neurogenetic disorders, including:

  • Expert up-to-date diagnosis and consultation for individuals with hereditary or familial neurological disorders
  • Genetic counseling for families
  • Prenatal diagnosis
  • Medical management of neurogenetic disorders

Molecular Diagnosis Laboratory
Based in Penn's Department of Pathology and Laboratory Medicine, the Molecular Diagnosis Laboratory applies the latest techniques of molecular diagnosis to a wide range of neurogenetic disorders. Our specialists provide diagnostic services for many disorders, including:

  • Muscular dystrophy (Duchenne, Becker, facioscapulohumeral, limb-girdle)
  • Myotonic dystrophy
  • Hereditary neuropathy (Charcot-Marie-Tooth disease)
  • Spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander)
  • X-linked spinal and bulbar muscular atrophy (Kennedy's disease)
  • Friedreich's ataxia
  • Spinocerebellar degeneration
  • Hereditary spastic paraparesis
  • Olivopontocerebellar degeneration
  • Dystonia
  • Tourette's syndrome
  • Huntington's disease
  • Alzheimer's disease
  • Mitochondrial disorders (MERRF, MELAS, Leber's, Kearns-Sayre syndrome)
  • Neurobromatosis


Penn Medicine Neuroscience Center
Hospital of the University of Pennsylvania
3400 Spruce Street
2nd Floor, Ravdin Building
Philadelphia, PA 19104


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