Overview

Overview

Overview

The goal of a pediatric or adult genetic evaluation is to diagnose or treat a specific genetic condition.

Patients will often meet with a geneticist and a genetic counselor (and in some situations a metabolic nutritionist) to discuss the reason for referral and to obtain detailed medical and family histories.  The geneticist will perform a careful physical exam to assess for any features of a recognizable genetic syndrome.

Based on the information gathered at the appointment, the patient/family is provided with information regarding the suspected diagnosis or the possible diagnoses, information about the available genetic testing, and recommendations for management and preventive care.  Recommendation for additional screening (ie, MRIs or X-rays) or other specialist consultations may be made.  Some diagnoses require long term follow-up and/or specific treatments.

Even if a diagnosis is not established, patients may be followed over time to monitor their medical status and determine if further testing is necessary.

To learn more about our clinical genetic services, click on the links below: