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Adult Genetic Evaluation

Adults are referred for genetic evaluation for a variety of reasons including:

  • An individual with
    • Intellectual disability
    • Birth defect(s) such as cleft lip/palate, congenital heart defect, deafness
    • Unusual physical feature(s) such as unexplained tall or short stature
  • A person who has a family history of a known or suspected genetic condition

The professional genetics team, including Board Certified genetic counselors and medical geneticists, provide the Genetic Evaluation. During the appointment, family and medical history are reviewed, a physical examination is performed and medical tests may be ordered, as appropriate, to evaluate for a possible diagnosis. Discussions may include an explanation of a specific genetic disorder, its inheritance pattern and risk of recurrence in a family and potential treatment options for the condition. Recommendations for specialist care may be made.

A written summary of the evaluation is provided to the patient and the referring physician.