| Panel naam | NGS Neurodegeneration with brain iron accumulation NBIA |
|---|---|
| Panel methode | WES-based NGS |
| Panel versie ** | v3 |
| Panel kwaliteit *** | C |
| Core-NL | 2 core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie VUmc |
| Genen (10) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ATP13A2 | C | 99.94 | 100.00 | NM_022089.4 | |
| C19orf12 | C | 100.00 | 100.00 | NM_031448.6 | |
| COASY | C | 100.00 | 100.00 | NM_025233.7 | |
| CP | C | 100.00 | 100.00 | NM_000096.4 | |
| DCAF17 | C | 99.96 | 100.00 | NM_025000.4 | |
| FA2H | C | 100.00 | 100.00 | NM_024306.5 | |
| FTL | C | 100.00 | 100.00 | NM_000146.4 | |
| PANK2 | C | 100.00 | 100.00 | core-NL | NM_001386393.1 |
| PLA2G6 | C | 99.99 | 100.00 | core-NL | NM_003560.4 |
| WDR45 | C | 100.00 | 100.00 | NM_001029896.2 |
| Indicatie(s) |
|---|
| Neurodegeneration with brain iron accumulation NBIA |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C