Table 1.
Number of children with screen positive, true positive, false positive, false negative and not reported results during eNBS. Classic (C), mild (M), variants of uncertain significance (VUS, V) and heterozygous variants (H) represent the genotypes found during sequencing of the initial filter paper blood spot sample (see also Methods). * This is the clinical phenotype as sequencing was not performed.
| Screen Positive | True Positive Classic (C) Mild (M) VUS (V) |
False Positive Heterozygous (H) |
False Negative | Not Reported | |
|---|---|---|---|---|---|
| MCADD | 124 | 109 80 C 18 M 11 V |
15 11 H |
4 | NA |
| VLCADD | 25 | 6 3 C 3 V |
19 11 H |
0 | NA |
| LCHADD | 5 | 5 3 C 2 V |
0 | 0 | NA |
| MADD | 5 | 3 2 C * 1 V |
2 | NA | NA |
| CPT1D | 48 | 27 1 C 26 V |
21 | NA | NA |
| IVA | 10 | 6 6 M |
4 2 H |
0 | NA |
| MSUD | 57 | 3 3 C |
54 | 2 (intermittent) | NA |
| BIOTD | 79 | 47 | 18 pre-2018 0 post-2018 |
0 | 14 post-2018 |
| Raised C5OH | 117 | 5 HLCSD 21 other diagnoses |
9 | 1 | 82 post-2009 |