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% |