| Panel naam | NGS Sudden cardiac death |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | SCDv10 |
| Panel kwaliteit *** | A |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie AMC |
| Genen (65) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ABCC9 | A | 100 | 100 | ||
| AKAP9 | A | 100 | 100 | ||
| ALG10B | A | 100 | 100 | ||
| ANK2 | A | 100 | 100 | ||
| ANK3 | A | 100 | 100 | ||
| CACNA1C | A | 100 | 100 | ||
| CACNA1D | A | 100 | 100 | ||
| CALM1 | A | 100 | 100 | ||
| CALM2 | A | 100 | 100 | ||
| CALM3 | A | 100 | 100 | ||
| CASQ2 | A | 100 | 100 | ||
| CAV3 | A | 100 | 100 | ||
| DPP6 | A | 100 | 100 | ||
| DSC2 | A | 100 | 100 | ||
| DSG2 | A | 100 | 100 | ||
| DSP | A | 100 | 100 | ||
| FLNC | A | 100 | 100 | ||
| GJA5 | A | 100 | 100 | ||
| GJC1 | A | 100 | 100 | ||
| GNB2 | A | 100 | 100 | ||
| HCN4 | A | 100 | 100 | ||
| HEY2 | A | 100 | 100 | ||
| HOOK3 | A | 100 | 100 | ||
| IRX3 | A | 100 | 100 | ||
| JPH2 | A | 100 | 100 | ||
| JUP | A | 100 | 100 | ||
| KCNA5 | A | 100 | 100 | ||
| KCNAB2 | A | 100 | 100 | ||
| KCND3 | A | 100 | 100 | ||
| KCNE1 | A | 100 | 100 | ||
| KCNE2 | A | 100 | 100 | ||
| KCNE3 | A | 100 | 100 | ||
| KCNH2 | A | 100 | 100 | ||
| KCNJ2 | A | 100 | 100 | ||
| KCNQ1 | A | 100 | 100 | ||
| LAMP2 | A | 100 | 100 | ||
| LMNA | A | 100 | 100 | ||
| MYBPC3 | A | 100 | 100 | MYBPC3 Incl. introns | |
| MYH7 | A | 100 | 100 | ||
| MYL2 | A | 100 | 100 | ||
| MYL3 | A | 100 | 100 | ||
| MYL4 | A | 100 | 100 | ||
| NKX2-5 | A | 100 | 100 | ||
| NPPA | A | 100 | 100 | ||
| PKP2 | A | 100 | 100 | ||
| PLN | A | 100 | 100 | ||
| POPDC2 | A | 100 | 100 | ||
| PPA2 | A | 100 | 100 | ||
| PRKAG2 | A | 100 | 100 | ||
| RANGRF | A | 100 | 100 | ||
| RBM20 | A | 100 | 100 | ||
| RRAD | A | 100 | 100 | ||
| RYR2 | A | 100 | 100 | ||
| SCN5A | A | 100 | 100 | ||
| SLC4A3 | A | 100 | 100 | ||
| SNTA1 | A | 100 | 100 | ||
| TBX20 | A | 100 | 100 | ||
| TCAP | A | 100 | 100 | ||
| TECRL | A | 100 | 100 | ||
| TNNI3 | A | 100 | 100 | ||
| TNNI3K | A | 100 | 100 | ||
| TNNT2 | A | 100 | 100 | ||
| TPM1 | A | 100 | 100 | ||
| TRDN | A | 100 | 100 | ||
| TRPM4 | A | 100 | 100 |
| Indicatie(s) |
|---|
| Plotse hartdood |
** 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