Table 3.
MLPA results
| No. of id | PI_a | PI_b | PI_c | cov SMN1a | Cov SMN1b_e7 | Cov SMN1c | Cov SMN2a | Cov SMN2b e7 | Cov SMN2c | Scale factor | CN estimation | MLPA genotype |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 0.26 | 0.19 | 0.24 | 13 | 8 | 11 | 23 | 23 | 22 | 0.741 | 1:2 | 1:1* |
| 2 | 0.29 | 0.22 | 0.29 | 17 | 14 | 21 | 46 | 54 | 57 | 1.101 | 1:3 | 1:3 |
| 3 | 0.22 | 0.22 | 0.21 | 15 | 15 | 13 | 42 | 41 | 38 | 0.842 | 1:2 | 1:2 |
| 4 | 0.32 | 0.26 | 0.23 | 27 | 18 | 13 | 42 | 39 | 33 | 0.837 | 1:2 | 1:2 |
| 5 | 0.28 | 0.26 | 0.22 | 25 | 24 | 20 | 72 | 78 | 79 | 1.109 | 1:3 | 1:3 |
| 6 | 0.30 | 0.26 | 0.25 | 23 | 22 | 19 | 65 | 74 | 68 | 1.148 | 1:3 | 1:3 |
| 7 | 0.40 | 0.32 | 0.30 | 23 | 19 | 18 | 30 | 36 | 37 | 0.936 | Inconclusive | 1:2 |
Note: PI_x: scaled proportion of SMN1 reads in position x; cov xp: raw coverage of gene x at position p; scale factor: ; CN estimation: absolute copy number estimation SMN1:SMN2; MLPA genotype: genotype inferred from MLPA analysis.
Abbreviation: MLPA, multiplex ligation‐dependent probe amplification.
*
MLPA analysis showed deletion of exons 7–8 on both genes but three copies of exons 1–6 (impossible to distinguish whether they come from SMN1 or SMN2).