| Panel name | Sanger Blackfan-Diamond anemia |
|---|---|
| Panel method | Sanger sequencing |
| Panel version ** | v2 |
| Panel quality *** | |
| Core-NL | No core-NL genes included |
| CNV analysis | No |
| Location | Location VUmc |
| Genes (22) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ADA2 | |||||
| GATA1 | |||||
| RPL11 | |||||
| RPL15 | |||||
| RPL17 | |||||
| RPL26 | |||||
| RPL27 | |||||
| RPL31 | |||||
| RPL35A | |||||
| RPL5 | |||||
| RPS10 | |||||
| RPS15A | |||||
| RPS17 | |||||
| RPS19 | |||||
| RPS24 | |||||
| RPS26 | |||||
| RPS27 | |||||
| RPS28 | |||||
| RPS29 | |||||
| RPS7 | |||||
| RPS8 | |||||
| TSR2 |
| Indication(s) |
|---|
| Blackfan-Diamond anemia |
** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory
*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C