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NGS Segmental overgrowth disorders

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


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