| Panel naam | NGS Dementie |
|---|---|
| Panel methode | WES-based NGS |
| Panel versie ** | v5 |
| Panel kwaliteit *** | A/C |
| Core-NL | 4 core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie VUmc |
| Genen (98) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| AARS2 | C | ||||
| ABCD1 | C | ||||
| ADAR | C | ||||
| APP | A | core-NL | |||
| ARSA | C | ||||
| ASPA | C | ||||
| C19orf12 | C | ||||
| C9orf72 | C | ||||
| CCNF | C | ||||
| CHCHD10 | C | ||||
| CHMP2B | C | ||||
| CLCN2 | C | ||||
| CLN3 | C | ||||
| CLN5 | C | ||||
| CLN6 | C | ||||
| COL4A1 | C | ||||
| COL4A2 | C | ||||
| CP | C | ||||
| CSF1R | C | ||||
| CTSA | C | ||||
| CTSD | C | ||||
| CTSF | C | ||||
| CYLD | C | ||||
| DARS2 | C | ||||
| DCTN1 | C | ||||
| DNAJC5 | C | ||||
| DNAJC6 | C | ||||
| DPP6 | C | ||||
| EIF2B1 | C | ||||
| EIF2B2 | C | ||||
| EIF2B3 | C | ||||
| EIF2B4 | C | ||||
| EIF2B5 | C | ||||
| EPM2A | C | ||||
| ERBB4 | C | ||||
| FA2H | C | ||||
| FUS | C | ||||
| GALC | C | ||||
| GBE1 | C | ||||
| GNS | C | ||||
| GRN | A | core-NL | |||
| HEXA | C | ||||
| HGSNAT | C | ||||
| HMBS | C | ||||
| HTRA1 | C | ||||
| IDS | C | ||||
| IDUA | C | ||||
| IFIH1 | C | ||||
| ITM2B | C | ||||
| JAM2 | C | ||||
| LMNB1 | C | ||||
| MAPT | A | core-NL | |||
| MATR3 | C | ||||
| MCOLN1 | C | ||||
| MYORG | C | ||||
| NAGLU | C | ||||
| NHLRC1 | C | ||||
| NOTCH3 | C | ||||
| NPC1 | C | ||||
| NPC2 | C | ||||
| OPTN | C | ||||
| PANK2 | C | ||||
| PDGFB | C | ||||
| PDGFRB | C | ||||
| PINK1 | C | ||||
| PLA2G6 | C | ||||
| PPT1 | C | ||||
| PRKAR1B | C | ||||
| PRNP | C | ||||
| PSAP | C | ||||
| PSEN1 | A | core-NL | |||
| PSEN2 | C | ||||
| RNASEH2A | C | ||||
| RNASEH2B | C | ||||
| RNASEH2C | C | ||||
| RNASET2 | C | ||||
| SAMD9 | C | ||||
| SAMD9L | C | ||||
| SAMHD1 | C | ||||
| SERPINI1 | C | ||||
| SGSH | C | ||||
| SLC20A2 | C | ||||
| SMPD1 | C | ||||
| SNCA | C | ||||
| SNCB | C | ||||
| SPG11 | C | ||||
| SQSTM1 | C | ||||
| STUB1 | C | ||||
| TARDBP | C | ||||
| TBK1 | C | ||||
| TMEM106B | C | ||||
| TREX1 | C | ||||
| TUBA4A | C | ||||
| TYROBP | C | ||||
| UBQLN2 | C | ||||
| VCP | C | ||||
| VPS13A | C | ||||
| XPR1 | C |
| 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