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