| Panel naam | NGS Segmentale overgroei en Vasculaire malformaties (somatisch) |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | SOv7 |
| Panel kwaliteit *** | A |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Mozaïek detectie | Ja |
| Notitie | + gemarkeerde genen zijn genen waarin somatische varianten worden aangetroffen |
| Locatie | Locatie AMC |
| Genen (39) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ACVRL1 | A | 100.0 | 100.0 | ||
| AKT1 | A | 100.0 | 100.0 | + | |
| AKT2 | A | 100.0 | 100.0 | alleen codon p.Glu17/ + | |
| AKT3 | A | 100.0 | 100.0 | + | |
| ARAF | A | 100.0 | 100.0 | alleen codon p.Ser214/ + | |
| BRAF | A | 100.0 | 100.0 | alleen codons p.Val238-His766/ + | |
| CCM2 | A | 100.0 | 100.0 | ||
| ELMO2 | A | 100.0 | 100.0 | ||
| ENG | A | 100.0 | 100.0 | ||
| EPHB4 | A | 100.0 | 100.0 | ||
| FGFR2 | A | 100.0 | 100.0 | + | |
| FGFR3 | A | 100.0 | 100.0 | + | |
| GDF2 | A | 100.0 | 100.0 | ||
| GLMN | A | 100.0 | 100.0 | ||
| GNA11 | A | 100.0 | 100.0 | alleen codons p.Arg183 en p.Gln209/ + | |
| GNA14 | A | 100.0 | 100.0 | alleen codon p.Gln205/ + | |
| GNAQ | A | 100.0 | 100.0 | alleen codons p.Arg183 en p.Gln209/ + | |
| HRAS | A | 100.0 | 100.0 | + | |
| IDH1 | A | 100.0 | 100.0 | alleen codon p.Arg132/ + | |
| IDH2 | A | 100.0 | 100.0 | alleen codons p.Arg140 and p.Arg172/ + | |
| KDR | A | 100.0 | 100.0 | + | |
| KRAS | A | 100.0 | 100.0 | + | |
| KRIT1 | A | 100.0 | 100.0 | ||
| MAP2K1 | A | 100.0 | 100.0 | alleen codons p.Phe53-Asp67/ + | |
| MAP3K3 | A | 100.0 | 100.0 | alleen codon p.Ile441/ + | |
| MTOR | A | 100.0 | 100.0 | kinase domain codons p.Leu1382-Trp2549/ + | |
| NRAS | A | 100.0 | 100.0 | + | |
| PDCD10 | A | 100.0 | 100.0 | ||
| PIK3CA | A | 100.0 | 100.0 | + | |
| PIK3R1 | A | 100.0 | 100.0 | alleen SH2 domein en kinase domein codons p.Trp333-Val718/ + | |
| PIK3R2 | A | 100.0 | 100.0 | alleen SH2 domein en kinase domein codons p.Pro323-Val715/ + | |
| PTEN | A | 100.0 | 100.0 | + | |
| RASA1 | A | 100.0 | 100.0 | ||
| SMAD4 | A | 100.0 | 100.0 | ||
| SMO | A | 100.0 | 100.0 | alleen codon p.Leu412/ + | |
| STAMBP | A | 100.0 | 100.0 | ||
| TEK | A | 100.0 | 100.0 | + | |
| TSC1 | A | 100.0 | 100.0 | + | |
| TSC2 | A | 100.0 | 100.0 | + |
| Indicatie(s) |
|---|
| Capillaire malformatie arterioveneuse malformaties CM-AVM |
| Gelokaliseerde overgroei |
| 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