| 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