| Panel naam | NGS Congenitale hartafwijkingen |
|---|---|
| Panel methode | WES-based NGS |
| Panel versie ** | v1 |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie AMC |
| Genen (61) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ACTC1 | C | ||||
| ACVR2B | C | ||||
| ALDH1A2 | C | ||||
| ANKRD1 | C | ||||
| BRAF | C | ||||
| CFAP53 | C | ||||
| CFC1 | C | ||||
| CHD7 | C | ||||
| CITED2 | C | ||||
| CRELD1 | C | ||||
| EHMT1 | C | ||||
| ELN | C | ||||
| FBN1 | C | ||||
| FLT4 | C | ||||
| FOXC2 | C | ||||
| FOXH1 | C | ||||
| FOXL1 | C | ||||
| GATA4 | C | ||||
| GATA5 | C | ||||
| GATA6 | C | ||||
| GDF1 | C | ||||
| GJA1 | C | ||||
| GJA5 | C | ||||
| HAND1 | C | ||||
| HAND2 | C | ||||
| HEY2 | C | ||||
| JAG1 | C | ||||
| KMT2D | C | ||||
| KRAS | C | ||||
| LEFTY2 | C | ||||
| MCTP2 | C | ||||
| MED13L | C | ||||
| MMP21 | C | ||||
| MYH11 | C | ||||
| MYH6 | C | ||||
| MYH7 | C | ||||
| MYRF | C | ||||
| NAA15 | C | ||||
| NKX2-5 | C | ||||
| NKX2-6 | C | ||||
| NODAL | C | ||||
| NOTCH1 | C | ||||
| NOTCH2 | C | ||||
| NR2F2 | C | ||||
| PKD1L1 | C | ||||
| PLD1 | C | ||||
| PTPN11 | C | ||||
| RAF1 | C | ||||
| SHROOM3 | C | ||||
| SMAD6 | C | ||||
| SOS1 | C | ||||
| TAB2 | C | ||||
| TBX1 | C | ||||
| TBX20 | C | ||||
| TBX5 | C | ||||
| TDGF1 | C | ||||
| TFAP2B | C | ||||
| TLL1 | C | ||||
| TNNI3K | C | ||||
| ZFPM2 | C | ||||
| ZIC3 | C |
| Indicatie(s) |
|---|
| Aangeboren hartafwijkingen |
| Congenitale hartafwijkingen / Tetralogie van Fallot |
** 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