| Panel naam | NGS Vaatmalformaties |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | VMv5 |
| Panel kwaliteit *** | A |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie AMC |
| Genen (30) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ACVRL1 | A | 100.00 | 100.00 | ||
| AKT1 | A | 100.00 | 100.00 | ||
| ANTXR1 | A | 100.00 | 100.00 | ||
| BMPR2 | A | 100.00 | 100.00 | ||
| CAV1 | A | 100.00 | 100.00 | ||
| CCM2 | A | 100.00 | 100.00 | ||
| DOCK6 | A | 100.00 | 100.00 | ||
| EIF2AK4 | A | 100.00 | 100.00 | ||
| ELMO2 | A | 100.00 | 100.00 | ||
| ENG | A | 100.00 | 100.00 | ||
| EPHB4 | A | 100.00 | 100.00 | ||
| FOXF1 | A | 100.00 | 100.00 | ||
| GDF2 | A | 100.00 | 100.00 | ||
| GLMN | A | 100.00 | 100.00 | ||
| GNAQ | A | 100.00 | 100.00 | ||
| KCNK3 | A | 100.00 | 100.00 | ||
| KDR | A | 100.00 | 100.00 | ||
| KRAS | A | 100.00 | 100.00 | ||
| KRIT1 | A | 100.00 | 100.00 | ||
| MAP2K1 | A | 100.00 | 100.00 | ||
| MAP3K3 | A | 100.00 | 100.00 | ||
| PDCD10 | A | 100.00 | 100.00 | ||
| PIK3CA | A | 100.00 | 100.00 | ||
| PTEN | A | 100.00 | 100.00 | ||
| RASA1 | A | 100.00 | 100.00 | ||
| SMAD4 | A | 100.00 | 100.00 | ||
| SMAD9 | A | 100.00 | 100.00 | ||
| SOX18 | A | 100.00 | 100.00 | ||
| STAMBP | A | 100.00 | 100.00 | ||
| TEK | A | 100.00 | 100.00 |
| Indicatie(s) |
|---|
| Vaatmalformaties |
** 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