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Patients are referred to us for genetic evaluation with known genetic disorders, and also those searching for a diagnosis. Both children and adults with neurodevelopmental disorders including developmental delays, autism, and intellectual disabilities are evaluated in our office. We work with patients with multiple physical disabilities or single medical problems that may have an underlying genetic cause, such as hearing impairment, Ehlers-Danlos syndrome or heart disease. We also see families at risk for genetic disorders diagnosed in others in their family.
At an initial visit, the doctor will take a thorough history including pregnancy and birth history, full medical history, and family history. She will perform a physical exam, then discuss with you if any genetic testing may be beneficial. Often, testing is performed at a laboratory or in your home and usually not on the same day as the visit. Any information or results that you are able to provide from other doctors or specialists prior to your visit is helpful.