| Panel name | NGS Neurodegeneration with brain iron accumulation NBIA |
|---|---|
| Panel method | WES-based NGS |
| Panel version ** | v3 |
| Panel quality *** | A/C |
| Core-NL | 2 core-NL genes included |
| CNV analysis | No |
| Location | Location VUmc |
| Genes (10) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ATP13A2 | C | 99.8 | |||
| C19orf12 | C | 100.0 | |||
| COASY | C | 100.0 | |||
| CP | C | 99.5 | |||
| DCAF17 | C | 93.7 | |||
| FA2H | C | 100.0 | |||
| FTL | C | 100.0 | |||
| PANK2 | A | 99.8 | core-NL | ||
| PLA2G6 | A | 100.0 | core-NL | ||
| WDR45 | C | 100.0 |
| Indication(s) |
|---|
| Neurodegeneration with brain iron accululation NBIA |
** 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