| Panel naam | NGS Parkinson |
|---|---|
| Panel methode | WES-based NGS |
| Panel versie ** | v5 |
| Panel kwaliteit *** | A/C |
| Core-NL | 5 core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie VUmc |
| Genen (46) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ATP13A2 | C | ||||
| ATP1A3 | C | ||||
| ATP6AP2 | C | ||||
| ATP7B | C | ||||
| C19orf12 | C | ||||
| CHCHD2 | C | ||||
| COQ2 | C | ||||
| CSF1R | C | ||||
| DCTN1 | C | ||||
| DNAJC13 | C | ||||
| DNAJC6 | C | ||||
| EIF4G1 | C | ||||
| FBXO7 | C | ||||
| FTL | C | ||||
| GBA1 | C | ||||
| GCH1 | C | ||||
| GIGYF2 | C | ||||
| HTRA2 | C | ||||
| LRRK2 | A | core-NL | |||
| MAPT | C | ||||
| MYORG | C | ||||
| NR4A2 | C | ||||
| PANK2 | C | ||||
| PARK7 | A | core-NL | |||
| PDGFB | C | ||||
| PDGFRB | C | ||||
| PINK1 | A | core-NL | |||
| PLA2G6 | C | ||||
| POLG | C | ||||
| PRKN | A | core-NL | |||
| RAB39B | C | ||||
| SLC20A2 | A | ||||
| SLC30A10 | C | ||||
| SLC39A14 | C | ||||
| SLC6A3 | C | ||||
| SNCA | A | core-NL | |||
| SPR | C | ||||
| SYNJ1 | C | ||||
| TAF1 | C | ||||
| TH | C | ||||
| TMEM230 | C | ||||
| VPS13A | C | ||||
| VPS13C | C | ||||
| VPS35 | C | ||||
| WDR45 | C | ||||
| XPR1 | C |
| Indicatie(s) |
|---|
| Parkinson, ziekte van |
** 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