| Panel name | NGS Congenital Heart Defects |
|---|---|
| Panel method | Wes-based NGS |
| Panel version ** | v2 |
| Panel quality *** | C |
| Core-NL | No core-NL genes included |
| CNV analysis | Yes |
| Location | Location AMC |
| Genes (95) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ABL1 | C | 100.00 | 100.00 | ||
| ACTC1 | C | 99.76 | 99.98 | ||
| ACVR2B | C | 100.00 | 100.00 | ||
| ADNP | C | 100.00 | 100.00 | ||
| ALDH1A2 | C | 99.99 | 100.00 | ||
| ANKRD1 | C | 99.99 | 100.00 | ||
| ANKRD11 | C | 99.67 | 99.94 | ||
| BRAF | C | 99.98 | 100.00 | ||
| CACNA1C | C | 100.00 | 100.00 | ||
| CFAP45 | C | 100.00 | 100.00 | ||
| CFAP53 | C | 100.00 | 100.00 | ||
| CFC1 | C | 27.49 | 29.71 | ||
| CHD4 | C | 100.00 | 100.00 | ||
| CHD7 | C | 100.00 | 100.00 | ||
| CITED2 | C | 100.00 | 100.00 | ||
| COL3A1 | C | 99.99 | 100.00 | ||
| CRELD1 | C | 100.00 | 100.00 | ||
| CTNND1 | C | 100.00 | 100.00 | ||
| DCHS1 | C | 100.00 | 100.00 | ||
| DYRK1A | C | 99.99 | 99.99 | ||
| DZIP1 | C | 100.00 | 100.00 | ||
| EHMT1 | C | 99.44 | 99.63 | ||
| ELN | C | 99.90 | 100.00 | ||
| FBN1 | C | 99.96 | 99.99 | ||
| FBN2 | C | 100.00 | 100.00 | ||
| FLNA | C | 100.00 | 100.00 | ||
| FLT4 | C | 99.97 | 99.97 | ||
| FOXH1 | C | 100.00 | 100.00 | ||
| FOXJ1 | C | 100.00 | 100.00 | ||
| FOXL1 | C | 100.00 | 100.00 | ||
| GATA4 | C | 99.96 | 100.00 | ||
| GATA5 | C | 100.00 | 100.00 | ||
| GATA6 | C | 99.99 | 100.00 | ||
| GDF1 | C | 99.97 | 100.00 | ||
| GJA5 | C | 100.00 | 100.00 | ||
| GLIS1 | C | 98.46 | 99.78 | ||
| GLYR1 | C | 100.00 | 100.00 | ||
| HAND1 | C | 100.00 | 100.00 | ||
| HAND2 | C | 99.99 | 100.00 | ||
| HEY2 | C | 99.97 | 100.00 | ||
| JAG1 | C | 100.00 | 100.00 | ||
| KAT6B | C | 99.99 | 100.00 | ||
| KDR | C | 100.00 | 100.00 | ||
| KMT2A | C | 99.96 | 100.00 | ||
| KMT2D | C | 99.99 | 100.00 | ||
| KRAS | C | 100.00 | 100.00 | ||
| LEFTY2 | C | 100.00 | 100.00 | ||
| LMCD1 | C | 100.00 | 100.00 | ||
| MCTP2 | C | 100.00 | 100.00 | ||
| MED13L | C | 100.00 | 100.00 | ||
| MMP21 | C | 100.00 | 100.00 | ||
| MUC16 | C | 100.00 | 100.00 | ||
| MYH11 | C | 99.55 | 99.99 | ||
| MYH6 | C | 99.96 | 100.00 | ||
| MYH7 | C | 99.94 | 100.00 | ||
| MYRF | C | 100.00 | 100.00 | ||
| NAA15 | C | 99.95 | 100.00 | ||
| NF1 | C | 97.52 | 97.54 | ||
| NKX2-5 | C | 100.00 | 100.00 | ||
| NKX2-6 | C | 100.00 | 100.00 | ||
| NODAL | C | 100.00 | 100.00 | ||
| NONO | C | 99.98 | 100.00 | ||
| NOTCH1 | C | 99.97 | 99.99 | ||
| NOTCH2 | C | 99.73 | 99.92 | ||
| NR2F2 | C | 100.00 | 100.00 | ||
| NSD1 | C | 100.00 | 100.00 | ||
| ODAD1 | C | 96.47 | 96.47 | ||
| PKD1L1 | C | 99.98 | 99.99 | ||
| PLD1 | C | 99.99 | 100.00 | ||
| PLXND1 | C | 99.51 | 99.83 | ||
| PPP1R13L | C | 100.00 | 100.00 | ||
| PRKD1 | C | 100.00 | 100.00 | ||
| PTPN11 | C | 100.00 | 100.00 | ||
| RAF1 | C | 100.00 | 100.00 | ||
| RBFOX2 | C | 100.00 | 100.00 | ||
| ROBO4 | C | 100.00 | 100.00 | ||
| SHROOM3 | C | 100.00 | 100.00 | ||
| SMAD6 | C | 100.00 | 100.00 | ||
| SMARCA4 | C | 99.99 | 100.00 | ||
| SOS1 | C | 99.99 | 100.00 | ||
| SOX7 | C | 100.00 | 100.00 | ||
| SRF | C | 99.86 | 100.00 | ||
| TAB2 | C | 100.00 | 100.00 | ||
| TAF1 | C | 99.99 | 100.00 | ||
| TBX1 | C | 85.90 | 89.95 | ||
| TBX20 | C | 100.00 | 100.00 | ||
| TBX5 | C | 100.00 | 100.00 | ||
| TDGF1 | C | 100.00 | 100.00 | ||
| TFAP2B | C | 100.00 | 100.00 | ||
| TLL1 | C | 100.00 | 100.00 | ||
| TMEM260 | C | 100.00 | 100.00 | ||
| TNS1 | C | 100.00 | 100.00 | ||
| TSC1 | C | 100.00 | 100.00 | ||
| ZFPM2 | C | 100.00 | 100.00 | ||
| ZIC3 | C | 99.72 | 100.00 |
| Indication(s) |
|---|
| Congenital heart defects |
| Congenital heart disease / Tetralogy of Fallot |
** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory
*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C