| Panel naam | NGS Dementie |
|---|---|
| Panel methode | WES-based NGS |
| Panel versie ** | v5 |
| Panel kwaliteit *** | 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 | 99.99 | 100.00 | NM_020745.4 | |
| ABCD1 | C | 99.99 | 100.00 | NM_000033.4 | |
| ADAR | C | 100.00 | 100.00 | NM_001111.5 | |
| APP | C | 100.00 | 100.00 | core-NL | NM_000484.4 |
| ARSA | C | 100.00 | 100.00 | NM_000487.6 | |
| ASPA | C | 100.00 | 100.00 | NM_000049.4 | |
| C19orf12 | C | 100.00 | 100.00 | NM_031448.6 | |
| C9orf72 | C | 99.99 | 100.00 | NM_018325.5 | |
| CCNF | C | 100.00 | 100.00 | NM_001761.3 | |
| CHCHD10 | C | 100.00 | 100.00 | NM_213720.3 | |
| CHMP2B | C | 100.00 | 100.00 | NM_014043.4 | |
| CLCN2 | C | 100.00 | 100.00 | NM_004366.6 | |
| CLN3 | C | 99.96 | 100.00 | NM_001042432.2 | |
| CLN5 | C | 100.00 | 100.00 | NM_006493.4 | |
| CLN6 | C | 100.00 | 100.00 | NM_017882.3 | |
| COL4A1 | C | 99.99 | 100.00 | NM_001845.6 | |
| COL4A2 | C | 100.00 | 100.00 | NM_001846.4 | |
| CP | C | 100.00 | 100.00 | NM_000096.4 | |
| CSF1R | C | 100.00 | 100.00 | NM_001288705.3 | |
| CTSA | C | 100.00 | 100.00 | NM_000308.4 | |
| CTSD | C | 100.00 | 100.00 | NM_001909.5 | |
| CTSF | C | 99.99 | 100.00 | NM_003793.4 | |
| CYLD | C | 99.96 | 100.00 | NM_001378743.1 | |
| DARS2 | C | 99.69 | 99.99 | NM_018122.5 | |
| DCTN1 | C | 100.00 | 100.00 | NM_004082.5 | |
| DNAJC5 | C | 100.00 | 100.00 | NM_025219.3 | |
| DNAJC6 | C | 100.00 | 100.00 | NM_001256864.2 | |
| DPP6 | C | 99.26 | 99.91 | NM_130797.4 | |
| EIF2B1 | C | 100.00 | 100.00 | NM_001414.4 | |
| EIF2B2 | C | 99.96 | 100.00 | NM_014239.4 | |
| EIF2B3 | C | 99.36 | 99.92 | NM_020365.5 | |
| EIF2B4 | C | 100.00 | 100.00 | NM_001034116.2 | |
| EIF2B5 | C | 100.00 | 100.00 | NM_003907.3 | |
| EPM2A | C | 99.7 | 99.99 | NM_005670.4 | |
| ERBB4 | C | 100.00 | 100.00 | NM_005235.3 | |
| FA2H | C | 100.00 | 100.00 | NM_024306.5 | |
| FUS | C | 100.00 | 100.00 | NM_004960.4 | |
| GALC | C | 99.99 | 100.00 | NM_000153.4 | |
| GBE1 | C | 100.00 | 100.00 | NM_000158.4 | |
| GNS | C | 99.96 | 100.00 | NM_002076.4 | |
| GRN | C | 99.99 | 100.00 | core-NL | NM_002087.4 |
| HEXA | C | 100.00 | 100.00 | NM_000520.6 | |
| HGSNAT | C | 97.86 | 99.19 | NM_152419.3 | |
| HMBS | C | 100.00 | 100.00 | NM_000190.4 | |
| HTRA1 | C | 99.56 | 99.88 | NM_002775.5 | |
| IDS | C | 99.95 | 100.00 | NM_000202.8 | |
| IDUA | C | 100.00 | 100.00 | NM_000203.5 | |
| IFIH1 | C | 100.00 | 100.00 | NM_022168.4 | |
| ITM2B | C | 100.00 | 100.00 | NM_021999.5 | |
| JAM2 | C | 99.72 | 99.82 | NM_021219.4 | |
| LMNB1 | C | 100.00 | 100.00 | NM_005573.4 | |
| MAPT | C | 92.27 | 93.29 | core-NL | NM_001377265.1 |
| MATR3 | C | 100.00 | 100.00 | NM_018834.6 | |
| MCOLN1 | C | 99.95 | 99.95 | NM_020533.3 | |
| MYORG | C | 100.00 | 100.00 | NM_020702.5 | |
| NAGLU | C | 99.95 | 100.00 | NM_000263.4 | |
| NHLRC1 | C | 100.00 | 100.00 | NM_198586.3 | |
| NOTCH3 | C | 99.97 | 100.00 | NM_000435.3 | |
| NPC1 | C | 100.00 | 100.00 | NM_000271.5 | |
| NPC2 | C | 100.00 | 100.00 | NM_006432.5 | |
| OPTN | C | 100.00 | 100.00 | NM_001008212.2 | |
| PANK2 | C | 100.00 | 100.00 | NM_001386393.1 | |
| PDGFB | C | 100.00 | 100.00 | NM_002608.4 | |
| PDGFRB | C | 100.00 | 100.00 | NM_002609.4 | |
| PINK1 | C | 97.26 | 99.1 | NM_032409.3 | |
| PLA2G6 | C | 99.99 | 100.00 | NM_003560.4 | |
| PPT1 | C | 98.74 | 99.94 | NM_000310.4 | |
| PRKAR1B | C | 100.00 | 100.00 | NM_001164760.2 | |
| PRNP | C | 100.00 | 100.00 | NM_000311.5 | |
| PSAP | C | 100.00 | 100.00 | NM_002778.4 | |
| PSEN1 | C | 100.00 | 100.00 | core-NL | NM_000021.4 |
| PSEN2 | C | 100.00 | 100.00 | NM_000447.3 | |
| RNASEH2A | C | 100.00 | 100.00 | NM_006397.3 | |
| RNASEH2B | C | 100.00 | 100.00 | NM_024570.4 | |
| RNASEH2C | C | 100.00 | 100.00 | NM_032193.4 | |
| RNASET2 | C | 100.00 | 100.00 | NM_003730.6 | |
| SAMD9 | C | 100.00 | 100.00 | NM_017654.4 | |
| SAMD9L | C | 100.00 | 100.00 | NM_152703.5 | |
| SAMHD1 | C | 100.00 | 100.00 | NM_015474.4 | |
| SERPINI1 | C | 99.96 | 100.00 | NM_001122752.2 | |
| SGSH | C | 100.00 | 100.00 | NM_000199.5 | |
| SLC20A2 | C | 100.00 | 100.00 | NM_001257180.2 | |
| SMPD1 | C | 100.00 | 100.00 | NM_000543.5 | |
| SNCA | C | 100.00 | 100.00 | NM_000345.4 | |
| SNCB | C | 99.93 | 99.99 | NM_003085.5 | |
| SPG11 | C | 100.00 | 100.00 | NM_025137.4 | |
| SQSTM1 | C | 100.00 | 100.00 | NM_003900.5 | |
| STUB1 | C | 100.00 | 100.00 | NM_005861.4 | |
| TARDBP | C | 100.00 | 100.00 | NM_007375.4 | |
| TBK1 | C | 99.96 | 100.00 | NM_013254.4 | |
| TMEM106B | C | 100.00 | 100.00 | NM_001134232.2 | |
| TREX1 | C | 100.00 | 100.00 | NM_033629.6 | |
| TUBA4A | C | 100.00 | 100.00 | NM_006000.3 | |
| TYROBP | C | 100.00 | 100.00 | NM_003332.4 | |
| UBQLN2 | C | 100.00 | 100.00 | NM_013444.4 | |
| VCP | C | 99.98 | 99.98 | NM_007126.5 | |
| VPS13A | C | 100.00 | 100.00 | NM_033305.3 | |
| XPR1 | C | 99.93 | 100.00 | NM_004736.4 |
| 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