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Penn Medicine’s General Genetics Clinic evaluates, diagnoses, and manages patients with suspected or known genetic conditions. These may include syndromic conditions, chromosomal disorders, and single gene disorders.

Genetic disorders may cause a wide range of health issues including:

  • intellectual disabilities
  • structural anomalies
  • developmental disorders
  • metabolic abnormalities

Penn works closely with providers from many different specialties to coordinate a genetics evaluation.

As part of an evaluation in this clinic, a thorough medical and family history will be taken, a physical examination will be performed and laboratory studies may be performed. Patients can have labs performed at Penn or orders can be placed to the patient’s preferred lab. Genetic testing can also be coordinated as necessary which may include a meeting with a genetic counselor or nurse practitioner.

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