Table 2.
Comparison between PCR and MLPA at detection of IZKF1 deletions
| PCR | MLPA | No. of patients | |
|---|---|---|---|
|
PCR Negative N=384 |
MLPA negative | 241 | |
| Positive (expected) | 52 | ||
| Δ1-2 | 7 | ||
| Δ1-3 | 3 | ||
| Δ2-3 | 4 | ||
| Δ1-7 | 3 | ||
| Δ1-8 (WG) | 34 | ||
| Δ1-2+Δ6-8 | 1 | ||
| Positive (not expected) | 21 | ||
| Δ2-8 | 7 | ||
| Δ4-8 | 4 | ||
| Δ2-7 | 4 | ||
| Δ4-7 | 2 | ||
| unknown del | 1 | ||
| Δ2-7(+Δ2-3) | 2 | ||
| Δ4-8(+Δ1-2) | 1 | ||
| MLPA Fail | 45 | ||
| No MLPA Result | 25 | ||
|
PCR Positive N=114 |
MLPA Positive | 75 | |
| Δ2-8 | 3 | ||
| Δ4-8 | 11 | ||
| Δ2-7 | 15 | ||
| Δ4-7 | 39 | ||
| Δ2-7 + 2-8 | 1 | ||
| Δ2-7 + 4-7 | 3 | ||
| Δ4-7 + 4-8 | 3 | ||
| MLPA positive, Incongruous with PCR) | 17 | ||
| Expected (not detectable by PCR) | 5 | ||
| Not expected (detectable by PCR) | 10 | ||
| Unknown del | 2 | ||
| No MLPA result | 2 | ||
| PCR positive | MLPA negative | 14 | |
| Δ4-7 | 8 | ||
| Δ2-7 | 2 | ||
| Δ4-8 | 4 | ||
| PCR positive | MLPA Fail | 6 | |
| Δ4-7 | 4 | ||
| Δ4-8 | 2 | ||
WG, whole gene.