Figure 2.

Possible workflow for SMA NBS implementation, along with patient follow-up to treatment. Days 1−3 of the laboratory work were based on a calculation of the time for the preparation of 7 to 8 plates (384-well plates) a day (about 1500 samples/day) and our current assay experience; about 2 laboratory specialists would be needed during this workflow. * Based on McMillan et al. [29]. ** International guidelines refer to treating all confirmed SMA infants with 4 SMN2 copies or less. However, the Brazilian PCDT only includes pre-symptomatic patients with up to 3 copies of SMN2; this might be a point of significant revision (see Discussion for additional details). Moreover, other factors can be relevant for the clinical indication of the treatments available. The figure was based on, and modified from, McMillan et al. [29].