Our division provides genetics services to children and adults including but not limited to:
- Evaluation for possible genetic causes of birth defects, chronic diseases or developmental problems
- Diagnosis of genetic disorders by physical examination and/or genetic testing
- Prenatal testing for chromosomal abnormalities and possible genetic disorders
- Tests to determine the chances for a genetic disorder to recur in a family
- Management and treatment of a genetic disorder
- Support groups for the genetic disorder
Physicians of the division are board-certified by the American Board of Medical Genetics and the American Board of Pediatrics, and our Genetic Counselors are certified by the American Board of Genetic Counseling.
What is a Pediatric Geneticist?
Pediatric geneticists are physicians with special training in both pediatrics and genetics, who serve as consultants to a patient's primary care provider. Working with both out-patients and hospital in-patients, they diagnose genetic conditions and recommend follow-up care which is implemented by the referring physician.
What Happens During a Pediatric Genetics Consultation?
- Medical Records: Whether the consultation occurs in the geneticist's office or at the bedside, all available medical records are reviewed before the patient is seen. From these, the geneticist and the genetic counselor construct a detailed family history. A three-generation family history, including both sides of the family, is the cornerstone of any genetic evaluation. Not only does it help provide answers to the referring physician's questions, but it may reveal other genetic issues in the family.
- The Visit: An initial outpatient visit usually lasts about 90 minutes. In-patient evaluations are variable in length. The patient is examined and, with permission, photographs may be taken. At the end of the visit, all findings are reviewed with the patient's family. For out-patient consults, a written assessment is provided and recommendations are made. The referring physician is contacted immediately by telephone, if urgent, and subsequently receives a written clinical summary of the visit, a copy of which is also sent to the family. Inpatient cases are discussed with the family and with the hospital staff, who arrange for the pediatric geneticist's recommendations to be carried out. The inpatient's primary care physician receives a summary letter, a copy of which is sent to the family.
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