| Panel name | NGS Vascular malformations |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | VMv6 |
| Panel quality *** | A |
| Core-NL | No core-NL genes included |
| CNV analysis | Yes |
| Location | Location AMC |
| Genes (14) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ACVRL1 | A | 100.00 | 100.00 | ||
| CCM2 | A | 100.00 | 100.00 | ||
| ELMO2 | A | 100.00 | 100.00 | ||
| ENG | A | 100.00 | 100.00 | ||
| EPHB4 | A | 100.00 | 100.00 | ||
| GDF2 | A | 100.00 | 100.00 | ||
| GLMN | A | 100.00 | 100.00 | ||
| KRIT1 | A | 100.00 | 100.00 | ||
| PDCD10 | A | 100.00 | 100.00 | ||
| PTEN | A | 100.00 | 100.00 | ||
| RASA1 | A | 100.00 | 100.00 | ||
| SMAD4 | A | 100.00 | 100.00 | ||
| STAMBP | A | 100.00 | 100.00 | ||
| TEK | A | 100.00 | 100.00 |
| Indication(s) |
|---|
| Capillary malformation arteriovenous malformation CM-AVM |
| Vascular malformations |
** 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