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.