Table 3.
Clinical Category | Genetic Category | Number | CLIR Applied to MS/MS with 2TT 1 | ||
---|---|---|---|---|---|
SCAD(2M) | Uncertain | Not SCAD(2M) | |||
SCAD | SCAD(2M) | 23 | 21 | 2 | 0 |
SCAD(2M1P) | 4 | 4 | 0 | 0 | |
SCAD(2M2P) | 3 | 3 | 0 | 0 | |
SCAD(het) | SCAD(1M1P) | 24 | 10 | 2 | 12 |
SCAD(1M2P) | 7 | 3 | 1 | 3 | |
Not SCAD | SCAD(2P) | 10 | 0 | 0 | 10 |
SCAD(1P) | 1 | 1 | 0 | 0 | |
No SCAD variants | 2 | 1 | 0 | 1 | |
Total | 74 | 43 | 5 | 26 | |
PPV | 40.50% | 62.50% | |||
Reduction in Positives | 35.1% |
1 Second-tier test. PPV: positive predictive value.