TABLE 1

What Families Might Expect From the Clinical Genetics Evaluation

Before visitRequest for child's medical charts; neurodevelopmental test results; all medical test results; copies of MRI, CT, or other imaging studies
Request to bring photographs of child and family members
Asked about the family history
Asked to set aside sufficient time for prolonged consultation
At the visitClarify the purpose of the visit
Review the child's medical history and neurodevelopmental status
Review family history (≥3 generations)
Complete physical and neurologic examinations
Geneticist's initial impressions discussed
After the visitClinical photographs
Laboratory studies (blood and/or urine tests)
Arrangements for MRI or CT studies
Arrangements for other consultations (eg, neurology, developmental pediatrics, ophthalmology, etc)
Arrangements for ongoing communication and follow-up visits