NGS Segmental overgrowth and Vascular malformations (somatic)

Panel name	NGS Segmental overgrowth and Vascular malformations (somatic)
Panel method	Targeted NGS
Panel version **	SOv7
Panel quality ***	A
Core-NL	No core-NL genes included
CNV analysis	No
Mosaic detection	Yes
Note	+ gemarkeerde genen zijn genen waarin somatische varianten worden aangetroffen
Location	Location AMC

Genes (39)	Quality	% coverage >30	% coverage >20	Core-NL	Note
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		+

Indication(s)
Capillary malformation arteriovenous malformation CM-AVM
Segmental overgrowth disorder
Vascular malformations

** 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