Table 5.
Blinded Validation Analysis of Multiplex PE Panels Coupled with MALDI-TOF MS in 162 Randomly Selected Samples Carrying HBB Mutations Previously Genotyped by Conventional Methods
| Number of samples tested by PE panel that gave 100% concordant results compared with conventional methods |
|||||
|---|---|---|---|---|---|
| HBB mutation | Panel 1 alone | Panel 2 Alone | Panel 3 alone | Panel 1 + 2 (in same sample) | Panel 1 + 2 +3 (in same sample) |
| Homozygous mutation (2 types, 8 samples) | |||||
| c.−78A>G | 2 | 1 | — | 1 | — |
| c.79G>A | 6 | 6 | — | 5 | — |
| Compound heterozygous mutation (10 types, 34 samples) | |||||
| c.−81A>G/c.79G>A | 1 | 2 | — | 1 | — |
| c.−78A>G/c.59A>G | 1 | 1 | — | 1 | — |
| c.−78A>G/c.79G>A | 2 | 2 | — | 2 | — |
| c.52A>T/c.79G>A | 5 | 10 | 8 | 5 | 5 |
| c.59A>G/c.79G>A | 1 | 1 | — | 1 | — |
| c.92 + 1G>T/c.79G>A | 2 | 4 | — | 2 | — |
| c.124_127delTTCT/c.79G>A | 4 | 8 | — | 4 | — |
| c.364G>C/c.79G>A | 1 | 2 | — | 1 | — |
| c.441_442insAC/c.79G>A | 1 | 2 | 2 | 1 | 1 |
| c.216_217insA/c.441_442insAC | 1 | 2 | 2 | 1 | 1 |
| Heterozygous mutation (15 types, 120 samples) | |||||
| c.−81A>G | 1 | 1 | — | 1 | — |
| c.−78A>G | 10 | 9 | — | 8 | — |
| c.2T>G | 2 | 1 | — | 1 | — |
| c.19G>A | 2 | 1 | 1 | 1 | 1 |
| c.52A>T | 26 | 27 | 36 | 19 | 19 |
| c.59A>G | 5 | 2 | — | 2 | — |
| c.79G>A | 3 | 1 | — | 1 | — |
| c.92 + 1G>T | 3 | 4 | — | 3 | — |
| c.92 + 5G>C | 3 | 1 | — | 1 | — |
| c.124_127delTTCT | 33 | 35 | — | 27 | — |
| c.216_217insA | 3 | 3 | — | 3 | — |
| c.316−197C>T | 8 | 7 | — | 7 | — |
| c.370_377delACCCCACC | 1 | 1 | — | 1 | — |
| c.410G>A | 2 | 2 | — | 2 | — |
| c.441_442insAC | 3 | 4 | 5 | 2 | 2 |
| Total | 132 | 140 | 54 | 104 | 29 |