| Panel naam | NGS Cardiomyopathie |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | CMv20 |
| Panel kwaliteit *** | A |
| Core-NL | 36 core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie AMC |
| Genen (59) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ACTC1 | A | 100.0 | 100.0 | core-NL | |
| ACTN2 | A | 100.0 | 100.0 | core-NL | |
| ALPK3 | A | 100.0 | 100.0 | core-NL | |
| ANKRD1 | A | 100.0 | 100.0 | ||
| BAG3 | A | 100.0 | 100.0 | core-NL | |
| CALR3 | A | 100.0 | 100.0 | ||
| CAV3 | A | 100.0 | 100.0 | ||
| CDH2 | A | 100.0 | 100.0 | ||
| CRYAB | A | 100.0 | 100.0 | ||
| CSRP3 | A | 100.0 | 100.0 | core-NL | |
| CTNNA3 | A | 100.0 | 100.0 | ||
| DES | A | 100.0 | 100.0 | core-NL | |
| DMD | A | 100.0 | 100.0 | Analyse optioneel, svp aangeven bij aanvraag | |
| DSC2 | A | 100.0 | 100.0 | core-NL | |
| DSG2 | A | 100.0 | 100.0 | core-NL | |
| DSP | A | 100.0 | 100.0 | core-NL | |
| EMD | A | 100.0 | 100.0 | ||
| FHL1 | A | 100.0 | 100.0 | core-NL | |
| FHL2 | A | 100.0 | 100.0 | ||
| FHOD3 | A | 100.0 | 100.0 | ||
| FKRP | A | 100.0 | 100.0 | ||
| FLNC | A | 100.0 | 100.0 | core-NL | |
| GLA | A | 100.0 | 100.0 | core-NL | |
| HCN4 | A | 100.0 | 100.0 | core-NL | |
| JPH2 | A | 100.0 | 100.0 | core-NL | |
| JUP | A | 100.0 | 100.0 | core-NL | |
| LAMA4 | A | 100.0 | 100.0 | ||
| LAMP2 | A | 100.0 | 100.0 | core-NL | |
| LDB3 | A | 100.0 | 100.0 | ||
| LMNA | A | 100.0 | 100.0 | core-NL | |
| MIB1 | A | 100.0 | 100.0 | ||
| MYBPC3 | A | 100.0 | 100.0 | core-NL | incl alle intronen MYBPC3 |
| MYH6 | A | 100.0 | 100.0 | ||
| MYH7 | A | 100.0 | 100.0 | core-NL | |
| MYL2 | A | 100.0 | 100.0 | core-NL | |
| MYL3 | A | 100.0 | 100.0 | core-NL | |
| MYLK3 | A | 100.0 | 100.0 | ||
| MYOZ2 | A | 100.0 | 100.0 | ||
| MYPN | A | 100.0 | 100.0 | ||
| NEXN | A | 100.0 | 100.0 | core-NL | |
| PKP2 | A | 100.0 | 100.0 | core-NL | |
| PLN | A | 100.0 | 100.0 | core-NL | |
| PPA2 | A | 100.0 | 100.0 | ||
| PRDM16 | A | 100.0 | 100.0 | ||
| PRKAG2 | A | 100.0 | 100.0 | core-NL | |
| RBM20 | A | 100.0 | 100.0 | core-NL | |
| SCN5A | A | 100.0 | 100.0 | core-NL | |
| TAFAZZIN | A | 100.0 | 100.0 | core-NL | |
| TCAP | A | 100.0 | 100.0 | ||
| TMEM43 | A | 100.0 | 100.0 | core-NL | |
| TNNC1 | A | 100.0 | 100.0 | core-NL | |
| TNNI3 | A | 100.0 | 100.0 | core-NL | |
| TNNI3K | A | 100.0 | 100.0 | ||
| TNNT2 | A | 100.0 | 100.0 | core-NL | |
| TPM1 | A | 100.0 | 100.0 | core-NL | |
| TRIM63 | A | 100.0 | 100.0 | ||
| TTN | A | 100.0 | 100.0 | core-NL | |
| TTR | A | 100.0 | 100.0 | core-NL | |
| VCL | A | 100.0 | 100.0 | core-NL |
| Indicatie(s) |
|---|
| Aritmogene rechter ventrikel dysplasie/cardiomyopatie ARVD/ARVC |
| Cardiomyopathie CM |
| Gedilateerde cardiomyopathie DCM |
| Hypertrofische cardiomyopathie HCM |
| Non compactie cardiomyopathie NCCM |
| Plotse hartdood |
| Restrictieve cardiomyopathie RCM |
** 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