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 (23) | 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 | |
TEK | A | 100.0 | 100.0 | Alleen kinase domein codons p.Pro813 - Ala1124 | |
TSC1 | A | 100.0 | 100.0 | ||
TSC2 | A | 100.0 | 100.0 |
Indication(s) |
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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