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