| Panel naam | NGS Lymfoedeem |
|---|---|
| Panel methode | Wes-based NGS |
| Panel versie ** | LMPv10 |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie AMC |
| Genen (64) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ABCC9 | C | 99.98 | 100.00 | ||
| ADAMTS3 | C | 99.98 | 100.00 | ||
| ANGPT2 | C | 100.00 | 100.00 | ||
| ARAP3 | C | 100.00 | 100.00 | ||
| BRAF | C | 99.98 | 100.00 | ||
| CBL | C | 100.00 | 100.00 | ||
| CCBE1 | C | 99.98 | 100.00 | ||
| CDC42 | C | 99.99 | 100.00 | ||
| CELSR1 | C | 99.99 | 100.00 | ||
| CHD5 | C | 100.00 | 100.00 | ||
| DCHS1 | C | 100.00 | 100.00 | ||
| EPHB4 | C | 99.89 | 100.00 | ||
| ERG | C | 99.98 | 100.00 | ||
| FAT4 | C | 100.00 | 100.00 | ||
| FBXL7 | C | 100.00 | 100.00 | ||
| FLT4 | C | 99.97 | 99.97 | ||
| FOXC2 | C | 99.91 | 100.00 | ||
| GATA2 | C | 100.00 | 100.00 | ||
| GJA1 | C | 100.00 | 100.00 | ||
| GJC2 | C | 99.66 | 99.97 | ||
| HRAS | C | 100.00 | 100.00 | ||
| KIF11 | C | 100.00 | 100.00 | ||
| KIF7 | C | 99.98 | 100.00 | ||
| KRAS | C | 100.00 | 100.00 | ||
| LYVE1 | C | 100.00 | 100.00 | ||
| LZTR1 | C | 98.92 | 99.83 | ||
| MAP2K1 | C | 100.00 | 100.00 | ||
| MAP2K2 | C | 99.99 | 100.00 | ||
| MAPK1 | C | 99.89 | 100.00 | ||
| MDFIC | C | 99.39 | 99.76 | ||
| MRAS | C | 100.00 | 100.00 | ||
| NAGA | C | 100.00 | 100.00 | ||
| NF1 | C | 97.52 | 97.54 | ||
| NRAS | C | 100.00 | 100.00 | ||
| NRP1 | C | 99.99 | 100.00 | ||
| NRP2 | C | 100.00 | 100.00 | ||
| NSD1 | C | 100.00 | 100.00 | ||
| PIEZO1 | C | 99.96 | 99.99 | ||
| PMM2 | C | 100.00 | 100.00 | ||
| PPP1CB | C | 99.99 | 100.00 | ||
| PROX1 | C | 100.00 | 100.00 | ||
| PTPN11 | C | 100.00 | 100.00 | ||
| PTPN14 | C | 99.96 | 99.99 | ||
| RAC1 | C | 100.00 | 100.00 | ||
| RAF1 | C | 100.00 | 100.00 | ||
| RASA1 | C | 100.00 | 100.00 | ||
| RASA2 | C | 99.96 | 100.00 | ||
| RELN | C | 100.00 | 100.00 | ||
| RIT1 | C | 100.00 | 100.00 | ||
| RORC | C | 99.64 | 99.95 | ||
| RRAS | C | 100.00 | 100.00 | ||
| RRAS2 | C | 99.96 | 100.00 | ||
| SHANK3 | C | 96.01 | 96.54 | ||
| SHOC2 | C | 100.00 | 100.00 | ||
| SOS1 | C | 99.99 | 100.00 | ||
| SOS2 | C | 99.98 | 100.00 | ||
| SOX18 | C | 96.21 | 98.49 | ||
| SPRED1 | C | 100.00 | 100.00 | ||
| SPRED2 | C | 100.00 | 100.00 | ||
| SVEP1 | C | 100.00 | 100.00 | ||
| TIE1 | C | 99.90 | 99.98 | ||
| TSC1 | C | 100.00 | 100.00 | ||
| TSC2 | C | 99.98 | 99.99 | ||
| VEGFC | C | 100.00 | 100.00 |
| Indicatie(s) |
|---|
| Hypotrichosis lymfoedeem telangiectasia syndroom |
| Lymfoedeem |
| Lymfoedeem-distichiasis syndroom |
** 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