Treatments and Services

Doctors use genetic testing to:

  • Predict or diagnose genetic disorders caused by the mutation of genes
  • Determine a patient's level of risk
  • Confirm a diagnosis
  • Help a patient's doctor to devise a treatment plan
  • Determine whether a fetus is at risk of genetic disorders or physical deformities
  • Test newborns for genetic disease
  • Test potential parents to determine whether they carry genes for a disease that could be passed to children

Testing usually requires a blood sample -- or in some cases a sample of hair, skin or other tissue. The samples are sent to a lab for analysis. Later, a genetic counselor or geneticist will review the test results with the patient. Results are not always 100 percent accurate.

For example, in many cases genetic testing can give only an idea of the risk of developing certain conditions. However, genetic testing is invaluable for helping people with a history of certain medical conditions (and other people as well) plan for the future by understanding their health risks.

The Department of Medical Genetics has specialty clinics for patients who have certain disorders:

  • Marfan Syndrome Clinic - Patients evaluated with Marfan Syndrome are seen by a cardiologist, a medical geneticist, an ophthalmologist and orthopedist, as needed.
  • Neurofibromatosis Clinic - Patients with neurofibromatosis type 1 and type 2 receive care from endocrine surgeons, spine surgeons, orthopedic oncology surgeons, pediatric surgeons and pediatric orthopedic surgeons. They also have access to geneticists, neurologists, ophthalmologists, oncologists, endocrinologists, dermatologists, radiologists, audiologists, ENT doctors, pain specialists and physical medicine and rehabilitation specialists.
  • Pediatric Genetics Clinic - Pediatric patients are seen by geneticists, pediatricians and other specialists, as needed. Patients are evaluated and treated for inborn errors of metabolism, connective tissue dysplasias, developmental delay, birth defects, fetal alcohol syndrome, skeletal dysplasias, chromosome disorders, autism, and a number of hereditary disorders.
  • Tuberous Sclerosis Clinic - Patients with tuberous sclerosis are usually seen by a medical geneticist and dermatologist -- and a neurologist and urologist, if necessary.
  • Von Hippel-Lindau Clinic - Patients with suspected or confirmed von Hippel-Lindau syndrome are seen by an oncologist, a medical geneticist and other specialists -- such as a nephrologist, endocrinologist and a neurologist -- as needed.
  • Familial Cancer Clinic - Patients with suspected or confirmed predisposition to cancers of any type.