Panel naam | NGS Dementie/ALS |
---|---|
Panel methode | WES-based NGS |
Panel versie ** | v4 |
Panel kwaliteit *** | A/C |
Core-NL | 4 core-NL genen inbegrepen |
CNV analyse | Nee |
Locatie | Locatie VUmc |
Genen (54) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
---|---|---|---|---|---|
ALS2 | C | 97.7 | |||
ANG | C | 100.0 | |||
APOE | C | 100.0 | |||
APP | A | 99.5 | core-NL | ||
ATP7B | C | 100.0 | |||
C19orf12 | C | 100.0 | |||
C9orf72 | C | 96.6 | |||
CHCHD10 | C | 100.0 | |||
CHMP2B | C | 98.8 | |||
CLN3 | C | 97.4 | |||
CLN5 | C | 100.0 | |||
CP | C | 99.5 | |||
CSF1R | C | 100.0 | |||
CTSD | C | 100.0 | |||
CTSF | C | 96.3 | |||
EIF4G1 | C | 100.0 | |||
ERBB4 | C | 99.5 | |||
FUS | C | 99.8 | |||
GRN | A | 100.0 | core-NL | ||
HNRNPA1 | C | 95.2 | |||
HNRNPA2B1 | C | 99.6 | |||
HTRA1 | C | 95.1 | |||
ITM2B | C | 99.7 | |||
MAPT | A | 95.9 | core-NL | ||
NOTCH3 | C | 100.0 | |||
NPC1 | C | 98.5 | |||
NPC2 | C | 100.0 | |||
OPTN | C | 99.9 | |||
PDGFB | C | 99.9 | |||
PDGFRB | C | 100.0 | |||
PPT1 | C | 94.6 | |||
PRKAR1B | C | 100.0 | |||
PRNP | C | 100.0 | |||
PSEN1 | A | 94.6 | core-NL | ||
PSEN2 | C | 99.8 | |||
PSENEN | C | 100.0 | |||
SERPINI1 | C | 93.2 | |||
SETX | C | 99.6 | |||
SIGMAR1 | C | 100.0 | |||
SLC20A2 | C | 98.8 | |||
SNCA | C | 96.0 | |||
SNCB | C | 100.0 | |||
SOD1 | C | 97.5 | |||
SORL1 | C | 99.9 | |||
SPG11 | C | 98.4 | |||
SQSTM1 | C | 100.0 | |||
TARDBP | C | 99.5 | |||
TBK1 | C | 94.3 | |||
TREM2 | C | 100.0 | |||
TYROBP | C | 100.0 | |||
UBQLN2 | C | 100.0 | |||
VCP | C | 99.1 | |||
VPS13A | C | 96.0 | |||
XPR1 | C | 91.1 |
Indicatie(s) |
---|
Alzheimer, ziekte van |
Amyotrofe lateraal sclerose ALS |
Frontotemporale dementie FTDALS1 |
** 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