FIG 2.

Schematic representation of patients referred for constitutional testing. Includes patients who did not have testing performed for clinical reasons, patients who still require referral and genetic testing, and results of testing for the patients for whom testing was conducted. Patients were presumed positive if they met clinical criteria for a diagnosis without the need for genetic testing, and were presumed negative when they did not meet clinical criteria for a diagnosis. In all cases, the individual was evaluated clinically.