Panel naam | NGS Parkinson |
---|---|
Panel methode | WES-based NGS |
Panel versie ** | v5 |
Panel kwaliteit *** | 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 | 99.94 | 100.00 | NM_022089.4 | |
ATP1A3 | C | 100.00 | 100.00 | NM_152296.5 | |
ATP6AP2 | C | 99.95 | 100.00 | NM_005765.3 | |
ATP7B | C | 100.00 | 100.00 | NM_000053.4 | |
C19orf12 | C | 100.00 | 100.00 | NM_031448.6 | |
CHCHD2 | C | 99.31 | 99.7 | NM_016139.4 | |
COQ2 | C | 100.00 | 100.00 | NM_001358921.2 | |
CSF1R | C | 100.00 | 100.00 | NM_001288705.3 | |
DCTN1 | C | 100.00 | 100.00 | NM_004082.5 | |
DNAJC13 | C | 99.99 | 100.00 | NM_015268.4 | |
DNAJC6 | C | 100.00 | 100.00 | NM_001256864.2 | |
EIF4G1 | C | 100.00 | 100.00 | NM_198241.3 | |
FBXO7 | C | 100.00 | 100.00 | NM_012179.4 | |
FTL | C | 100.00 | 100.00 | NM_000146.4 | |
GBA1 | C | ||||
GCH1 | C | 99.96 | 99.99 | NM_000161.3 | |
GIGYF2 | C | 100.00 | 100.00 | NM_001103146.3 | |
HTRA2 | C | 100.00 | 100.00 | NM_013247.5 | |
LRRK2 | C | 100.00 | 100.00 | core-NL | NM_198578.4 |
MAPT | C | 92.27 | 93.29 | NM_001377265.1 | |
MYORG | C | 100.00 | 100.00 | NM_020702.5 | |
NR4A2 | C | 100.00 | 100.00 | NM_006186.4 | |
PANK2 | C | 100.00 | 100.00 | NM_001386393.1 | |
PARK7 | C | 100.00 | 100.00 | core-NL | NM_007262.5 |
PDGFB | C | 100.00 | 100.00 | NM_002608.4 | |
PDGFRB | C | 100.00 | 100.00 | NM_002609.4 | |
PINK1 | C | 97.26 | 99.1 | core-NL | NM_032409.3 |
PLA2G6 | C | 99.99 | 100.00 | NM_003560.4 | |
POLG | C | 100.00 | 100.00 | NM_002693.3 | |
PRKN | C | 100.00 | 100.00 | core-NL | NM_004562.3 |
RAB39B | C | 100.00 | 100.00 | NM_171998.4 | |
SLC20A2 | C | 100.00 | 100.00 | NM_001257180.2 | |
SLC30A10 | C | 100.00 | 100.00 | NM_018713.3 | |
SLC39A14 | C | 100.00 | 100.00 | NM_001128431.4 | |
SLC6A3 | C | 99.99 | 100.00 | NM_001044.5 | |
SNCA | C | 100.00 | 100.00 | core-NL | NM_000345.4 |
SPR | C | 100.00 | 100.00 | NM_003124.5 | |
SYNJ1 | C | 99.98 | 99.99 | NM_203446.3 | |
TAF1 | C | 99.99 | 100.00 | NM_004606.5 | |
TH | C | 100.00 | 100.00 | NM_000360.4 | |
TMEM230 | C | 80.7 | 80.82 | NM_001009923.2 | |
VPS13A | C | 100.00 | 100.00 | NM_033305.3 | |
VPS13C | C | 99.97 | 99.99 | NM_020821.3 | |
VPS35 | C | 100.00 | 100.00 | NM_018206.6 | |
WDR45 | C | 100.00 | 100.00 | NM_001029896.2 | |
XPR1 | C | 99.93 | 100.00 | NM_004736.4 |
Indicatie(s) |
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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