Figure 3.

Algorithm for the diagnosis of Fabry disease. Starting from a diagnostic suspicion, it is possible to perform analyses that can confirm or reject the possible diagnosis of FD. Everything starts with DBS on filter paper, then the path changes in the case of male or female subjects. In male subjects, it is possible to perform a fairly rapid and exhaustive screening test of the dosage of α-Gal A enzyme activity. In case of a positive result (i.e., low enzymatic activity) or in case of doubt, it may be decided to perform sequencing of the 7 exons of the GLA gene to identify possible mutations causing the disease. In female subjects, where enzymatic activity may not be a diagnostic index, sequencing must be performed directly.