Table 1.
LSD | Total Screened | Positive NBS | Recall Rate | Patient Undergo to Confirmatory Testing | Patients with Confirmed Disorder | Pseudo Deficit | VUS | Carrier Status |
---|---|---|---|---|---|---|---|---|
Gaucher | 112,446 | 28 | 0.03 | 7 | 7 | 0 | 0 | 0 |
Pompe | 112,446 | 28 | 0.03 | 18 | 8 | 7 | 2 | 1 |
Fabry | 112,446 | 23 | 0.02 | 11 | 8 | 1 | 2 | 0 |
MPS I | 112,446 | 52 | 0.05 | 26 | 2 | 20 | 2 | 2 |
Multiple LSD | 112,446 | 7 | 0.01 | 0 | ||||
Total | 112,446 | 138 | 0.12 | 62 | 25 | 28 | 6 | 3 |