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What to Expect at Your Visit

Please allow 1.5 hours for your first visit.

The initial part of the visit will involve speaking with the medical team who will ask questions about the pregnancy, child's birth history, medical history (specific conditions or history of surgery) and developmental milestones/performance in school. They will also ask questions about the child's family history. It is useful to bring any history information from family members as well as records from any genetic tests or medical procedures performed on the child outside Boston Medical Center. Sometimes people worry they may not be able to answer all of the questions at the genetics visit. There is no need to worry. Parents and guardians are not expected to be able to answer every question and whatever information they have is typically helpful.

After the history is collected, the doctor will perform a physical examination. Some genetic conditions can involve very subtle characteristics and a thorough physical examination can sometimes provide clues to a diagnosis. Sometimes it is useful to do a genetic test (usually a blood test) to determine if a specific diagnosis explains the child's features. The team will discuss with the family the advantages and disadvantages of any further examinations or genetic tests at the appointment. Genetic testing is very expensive and it is sometimes necessary to get insurance preauthorization before performing a genetic test.

If a genetic diagnosis is made, the child will be seen on a regular basis to help manage child's medical care. If a genetic diagnosis is not made, it is still often helpful to have follow-up visits as the field of genetics is growing rapidly and new advances in diagnosis and available tests occur on a regular basis. Follow-up visits typically last less than an hour.

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