| Panel name | NGS Segmental overgrowth disorders |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | SOv5 |
| Panel quality *** | A |
| Core-NL | No core-NL genes included |
| CNV analysis | No |
| Mosaic detection | Yes |
| Location | Location AMC |
| Genes (22) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| AKT1 | A | 100.0 | 100.0 | ||
| AKT2 | A | 100.0 | 100.0 | Alleen codon p.Glu17 | |
| AKT3 | A | 100.0 | 100.0 | ||
| BRAF | A | 100.0 | 100.0 | Alleen codons p.Val238-His766 | |
| 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 | |
| KRAS | 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 | Alleen kinase domain codons p.Leu1382-Trp2549 | |
| NRAS | 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 | ||
| SMO | A | 100.0 | 100.0 | Alleen codon p.Leu412 | |
| TSC1 | A | 100.0 | 100.0 | ||
| TSC2 | A | 100.0 | 100.0 |
| Indication(s) |
|---|
| Segmental overgrowth disorder |
** 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