| Panel name | NGS Aorta and mitralis valve defects |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | v4.0 |
| Panel quality *** | A/C |
| Core-NL | 2 core-NL genes included |
| CNV analysis | Yes |
| Location | Location VUmc |
| Genes (10) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| DCHS1 | C | 100 | 100 | ||
| FLNA | A | 100 | 100 | core-NL | |
| GATA4 | C | 100 | 100 | ||
| GATA5 | C | 100 | 100 | ||
| GATA6 | C | 100 | 100 | ||
| NKX2-5 | C | 100 | 100 | ||
| NOTCH1 | A | 100 | 100 | core-NL | |
| ROBO4 | C | 100 | 100 | ||
| SMAD6 | C | 100 | 100 | ||
| TAB2 | C | 100 | 100 |
| Indication(s) |
|---|
| Aortic valve disease |
| Loeys-Dietz syndrome (LDS) |
** 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