Table 4.
Number of changes
| Gene name | Sanger | NextGENe | % called |
|---|---|---|---|
|
BCKDHA_1 |
2 |
2 |
100% |
|
BCKDHA_2 |
4 |
4 |
100% |
|
CBS |
2 |
2 |
100% |
|
CFTR |
3 |
3 |
100% |
|
DMD |
6 |
6 |
100% |
|
GAA |
20 |
20 |
100% |
|
GALC_1 |
12 |
12 |
100% |
|
GALC_2 |
9 |
9 |
100% |
|
GALT |
2 |
2 |
100% |
|
GBA_1 |
5 |
5 |
100% |
|
GBA_2 |
3 |
3 |
100% |
|
GJB2 |
2 |
2 |
100% |
|
HEXB |
7 |
7 |
100% |
|
IDUA |
13 |
13 |
100% |
|
OPA1 |
3 |
3 |
100% |
|
RECQL4 |
11 |
11 |
100% |
|
SGSH |
6 |
6 |
100% |
|
SMPD1 |
3 |
3 |
100% |
|
ZEB2 |
2 |
2 |
100% |
| Total changes | 119 | 119 | 100% |
Summary of the number of changes picked up on the validation run.