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