Treatments and Services

At your child's first visit, a member of our team will ask you questions about the parent's pregnancy, your child's birth history, medical history (specific conditions or history of surgery), developmental milestones/performance in school, and your child's family history. It is useful to bring any historical information that you have been able to collect from family members as well as records from any genetic tests or medical procedures performed on your child outside Boston Medical Center. Please allow an hour and a half for your first visit

Sometimes people are worried that they may not be able to answer all of the questions at the genetics visit. We do not expect you to have the answer to every question - whatever information you have is typically helpful.

After these questions, we will perform a physical examination, which can sometimes provide clues to a diagnosis. Our team will then discuss the advantages and disadvantages of any further examinations or genetic tests at your appointment. Genetic tests may include any or all of the below.

• Blood testing
• Buccal (cheek) swab testing
• Saliva sample

Genetic testing is very expensive, and it is sometimes necessary to get insurance preauthorization before we perform a genetic test.

If a genetic diagnosis is made, Dr. Hoffman will see your child on a regular basis to help manage their medical care. If a genetic diagnosis is not made, it is still often helpful to have follow-up visits with Dr. Hoffman as the field of genetics is growing fast and there are new advances in diagnosis and tests on a regular basis. Follow-up visits typically last less than an hour.