| Panel naam | NGS Dementie |
|---|---|
| Panel methode | WES-based NGS |
| Panel versie ** | v5.1 |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Genen (101) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| AARS2 | C | 99.99 | 100 | ||
| ABCD1 | C | 99.99 | 100 | ||
| ADAR | C | 100 | 100 | ||
| APP | C | 100 | 100 | ||
| ARSA | C | 100 | 100 | ||
| ASPA | C | 100 | 100 | ||
| C19orf12 | C | 100 | 100 | ||
| C9orf72 | C | 99.99 | 100 | ||
| CCNF | C | 100 | 100 | ||
| CHCHD10 | C | 100 | 100 | ||
| CHMP2B | C | 100 | 100 | ||
| CLCN2 | C | 100 | 100 | ||
| CLN3 | C | 99.96 | 100 | ||
| CLN5 | C | 100 | 100 | ||
| CLN6 | C | 100 | 100 | ||
| COL4A1 | C | 99.99 | 100 | ||
| COL4A2 | C | 100 | 100 | ||
| CP | C | 100 | 100 | ||
| CSF1R | C | 100 | 100 | ||
| CTSA | C | 100 | 100 | ||
| CTSD | C | 100 | 100 | ||
| CTSF | C | 99.98 | 100 | ||
| CYLD | C | 99.96 | 100 | ||
| DARS2 | C | 99.69 | 99.99 | ||
| DCTN1 | C | 100 | 100 | ||
| DNAJC5 | C | 100 | 100 | ||
| DNAJC6 | C | 100 | 100 | ||
| DPP6 | C | 99.26 | 99.91 | ||
| EIF2B1 | C | 100 | 100 | ||
| EIF2B2 | C | 99.96 | 100 | ||
| EIF2B3 | C | 99.36 | 99.92 | ||
| EIF2B4 | C | 100 | 100 | ||
| EIF2B5 | C | 100 | 100 | ||
| EPM2A | C | 99.7 | 99.99 | ||
| ERBB4 | C | 100 | 100 | ||
| FA2H | C | 100 | 100 | ||
| FUS | C | 100 | 100 | ||
| GALC | C | 99.99 | 100 | ||
| GBA1 | C | 99.89 | 99.99 | ||
| GBE1 | C | 100 | 100 | ||
| GNS | C | 99.96 | 100 | ||
| GRN | C | 99.99 | 100 | ||
| HEXA | C | 100 | 100 | ||
| HGSNAT | C | 97.86 | 99.19 | ||
| HMBS | C | 100 | 100 | ||
| HTRA1 | C | 99.56 | 99.88 | ||
| IDS | C | 99.95 | 100 | ||
| IDUA | C | 100 | 100 | ||
| IFIH1 | C | 100 | 100 | ||
| ITM2B | C | 100 | 100 | ||
| JAM2 | C | 99.72 | 99.82 | ||
| LMNB1 | C | 100 | 100 | ||
| MAPT | C | 92.27 | 93.29 | ||
| MATR3 | C | 100 | 100 | ||
| MCOLN1 | C | 99.95 | 99.95 | ||
| MYORG | C | 100 | 100 | ||
| NAGLU | C | 99.95 | 100 | ||
| NHLRC1 | C | 100 | 100 | ||
| NOTCH3 | C | 99.97 | 100 | ||
| NPC1 | C | 100 | 100 | ||
| NPC2 | C | 100 | 100 | ||
| OPTN | C | 100 | 100 | ||
| PANK2 | C | 100 | 100 | ||
| PDGFB | C | 100 | 100 | ||
| PDGFRB | C | 100 | 100 | ||
| PINK1 | C | 97.26 | 99.1 | ||
| PLA2G6 | C | 99.99 | 100 | ||
| PPT1 | C | 98.74 | 99.94 | ||
| PRKAR1B | C | 100 | 100 | ||
| PRNP | C | 100 | 100 | ||
| PSAP | C | 100 | 100 | ||
| PSEN1 | C | 100 | 100 | ||
| PSEN2 | C | 100 | 100 | ||
| RNASEH2A | C | 100 | 100 | ||
| RNASEH2B | C | 100 | 100 | ||
| RNASEH2C | C | 100 | 100 | ||
| RNASET2 | C | 100 | 100 | ||
| SAMD9 | C | 100 | 100 | ||
| SAMD9L | C | 100 | 100 | ||
| SAMHD1 | C | 100 | 100 | ||
| SERPINI1 | C | 99.96 | 100 | ||
| SGSH | C | 100 | 100 | ||
| SLC20A2 | C | 100 | 100 | ||
| SMPD1 | C | 100 | 100 | ||
| SNCA | C | 100 | 100 | ||
| SNCB | C | 99.93 | 99.99 | ||
| SORL1 | C | 99.99 | 100 | ||
| SPG11 | C | 100 | 100 | ||
| SQSTM1 | C | 100 | 100 | ||
| STUB1 | C | 100 | 100 | ||
| TARDBP | C | 100 | 100 | ||
| TBK1 | C | 99.96 | 100 | ||
| TMEM106B | C | 100 | 100 | ||
| TREM2 | C | 100 | 100 | ||
| TREX1 | C | 100 | 100 | ||
| TUBA4A | C | 100 | 100 | ||
| TYROBP | C | 100 | 100 | ||
| UBQLN2 | C | 100 | 100 | ||
| VCP | C | 99.98 | 99.98 | ||
| VPS13A | C | 100 | 100 | ||
| XPR1 | C | 99.92 | 100 |
| Indicatie(s) |
|---|
| Alzheimer, ziekte van |
| Frontotemporale dementie FTD |
** 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