Table 5.
Region 4 Stork post-analytical interpretive tool (R4S)/Collaborative Laboratory Integrated Reports 2.0 (CLIR) results for 75 true-positive, 107 false-positive and five false-negative cases during eNBS for 2012–2020.
| Condition | False Negatives | False Positives | True Positives | |||
|---|---|---|---|---|---|---|
| BIOT | 5 samples | percentiles: 22 (15–25) | 13 samples | percentiles: 27 (16–86) | ||
| scores: 128 (47–170) | scores: 188 (54–472) | |||||
| CPT-IA | 1 sample | percentiles: 0 (0–0) | 1 sample | percentiles: 57 (57–57) | ||
| scores: 0 (0–0) | scores: 553 (553–553) | |||||
| CPT-II/CACT | 1 sample | percentiles: 0 (0–0) | 2 samples | percentiles: 0 (0–0) | 5 samples | percentiles: 9 (0–82) |
| scores: 1 (1–1) | scores: 11.5 (0–23) | scores: 166 (1–754) | ||||
| CUD | 2 samples | percentiles: 27 (19–35) | 23 samples | percentiles: 39 (0–96) | 3 samples | percentiles: 53 (38–88) |
| scores: 70.5 (54–87) | scores: 97 (0–259) | scores: 128 (95–213) | ||||
| GA-I | 4 samples | percentiles: 61 (27–67) | ||||
| scores: 461 (175–504) | ||||||
| GA-II | 2 samples | percentiles: 37.5 (36–39) | 2 samples | percentiles: 40 (38–42) | ||
| scores: 404 (370–439) | scores: 452 (415–490) | |||||
| CBS | 2 samples | percentiles: 13.5 (0–27) | 2 samples | percentiles: 18 (4–32) | ||
| scores: 71.5 (18–125) | scores: 108 (32–184) | |||||
| IVA | 2 samples | percentiles: 61 (46–76) | ||||
| scores: 416 (286–546) | ||||||
| LCHADD/TFP | 1 sample | percentiles: 0 (0–0) | 5 samples | percentiles: 34 (2–87) | ||
| scores: 39 (39–39) | scores: 459 (132–760) | |||||
| MCADD | 4 samples | percentiles: 1.5 (0–2) | 16 samples | percentiles: 81.5 (25–99) | ||
| scores: 14.5 (3–24) | scores: 888 (265–1010) | |||||
| HCS | 2 samples | percentiles: 50 (0–100) | 1 sample | percentiles: 27 (27–27) | ||
| scores: 331 (83–579) | scores: 180 (180–180) | |||||
| MMA/PA/CblC | 56 samples | percentiles: 13 (0–29) | 7 samples | percentiles: 31 (24–91) | ||
| scores: 91.5 (0–252) | scores: 281 (194–683) | |||||
| MSUD | 2 samples | percentiles: 0 (0–0) | 2 samples | percentiles: 10 (6–14) | 2 samples | percentiles: 57 (37–77) |
| scores: 0 (0–0) | scores: 60.5 (36–85) | scores: 393 (255–531) | ||||
| TYR-I | 3 samples | percentiles: 20 (4–20) | 5 samples | percentiles: 23 (20–65) | ||
| scores: 83 (14–83) | scores: 102 (79–195) | |||||
| VLCADD | 5 samples | percentiles: 20 (5–34) | 6 samples | percentiles: 52 (11–66) | ||
| scores: 129 (63–214) | scores: 312 (94–418) | |||||
In this table, we present post hoc CLIR/R4S single condition tool scores and the associated percentiles for all true-positive, false-positive and false-negative calls from the Norwegian screening program between 2012 and 2020. The data in each panel show the number of samples found, and the medians and ranges for the CLIR percentiles and CLIR scores for these individuals. Since the ranges of the CLIR scores are specific to each disorder, they cannot be used as a proxy for severity when comparing disorders. For this reason, we have also provided the CLIR percentiles, which provide normalization, allowing a greater degree of comparability.