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NGS Congenital Heart Defects

Panel name NGS Congenital Heart Defects
Panel method WES-based NGS
Panel version ** v1
Panel quality *** C
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (61) Quality % coverage >30 % coverage >20 Core-NL Note
ACTC1 C
ACVR2B C
ALDH1A2 C
ANKRD1 C
BRAF C
CFAP53 C
CFC1 C
CHD7 C
CITED2 C
CRELD1 C
EHMT1 C
ELN C
FBN1 C
FLT4 C
FOXC2 C
FOXH1 C
FOXL1 C
GATA4 C
GATA5 C
GATA6 C
GDF1 C
GJA1 C
GJA5 C
HAND1 C
HAND2 C
HEY2 C
JAG1 C
KMT2D C
KRAS C
LEFTY2 C
MCTP2 C
MED13L C
MMP21 C
MYH11 C
MYH6 C
MYH7 C
MYRF C
NAA15 C
NKX2-5 C
NKX2-6 C
NODAL C
NOTCH1 C
NOTCH2 C
NR2F2 C
PKD1L1 C
PLD1 C
PTPN11 C
RAF1 C
SHROOM3 C
SMAD6 C
SOS1 C
TAB2 C
TBX1 C
TBX20 C
TBX5 C
TDGF1 C
TFAP2B C
TLL1 C
TNNI3K C
ZFPM2 C
ZIC3 C
Indication(s)
Congenital heart defects
Congenital heart disease / Tetralogy of Fallot

** 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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