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) |
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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