531658.fig.001
Figure 1: Patient enrolment and flow diagram based on mutation analysis. Diagnostic steps used for the participants. “True positive”, “False positive,” and “True negative” were based on end conclusion on mutation carriership after stepwise analyses in both laboratories, which indicate whether the laboratory result from the reference laboratory proved correct (True positive or True negative), or incorrect (False positive). Abbreviation: COUN = counter-expertise laboratory, REF = reference laboratory.