Panel naam | NGS Congenitale hartafwijkingen |
---|---|
Panel methode | WES-based NGS |
Panel versie ** | v1 |
Panel kwaliteit *** | C |
Core-NL | Geen core-NL genen inbegrepen |
CNV analyse | Nee |
Locatie | Locatie AMC |
Genen (61) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
---|---|---|---|---|---|
ACTC1 | C | 99.76 | 99.98 | NM_005159.5 | |
ACVR2B | C | 100.00 | 100.00 | NM_001106.4 | |
ALDH1A2 | C | 99.99 | 100.00 | NM_003888.4 | |
ANKRD1 | C | 99.99 | 100.00 | NM_014391.3 | |
BRAF | C | 99.98 | 100.00 | NM_004333.6 | |
CFAP53 | C | 100.00 | 100.00 | NM_145020.5 | |
CFC1 | C | 27.49 | 29.71 | NM_032545.4 | |
CHD7 | C | 100.00 | 100.00 | NM_017780.4 | |
CITED2 | C | 100.00 | 100.00 | NM_006079.5 | |
CRELD1 | C | 100.00 | 100.00 | NM_001077415.3 | |
EHMT1 | C | 99.44 | 99.63 | NM_024757.5 | |
ELN | C | 99.9 | 100.00 | NM_000501.4 | |
FBN1 | C | 99.96 | 99.99 | NM_000138.4 | |
FLT4 | C | 99.97 | 99.97 | NM_182925.5 | |
FOXC2 | C | 99.91 | 100.00 | NM_005251.3 | |
FOXH1 | C | 100.00 | 100.00 | NM_003923.3 | |
FOXL1 | C | 100.00 | 100.00 | NM_005250.3 | |
GATA4 | C | 99.96 | 100.00 | NM_001308093.3 | |
GATA5 | C | 100.00 | 100.00 | NM_080473.5 | |
GATA6 | C | 99.99 | 100.00 | NM_005257.6 | |
GDF1 | C | 99.97 | 100.00 | NM_001492.6 | |
GJA1 | C | 100.00 | 100.00 | NM_000165.5 | |
GJA5 | C | 100.00 | 100.00 | NM_181703.4 | |
HAND1 | C | 100.00 | 100.00 | NM_004821.3 | |
HAND2 | C | 99.99 | 100.00 | NM_021973.3 | |
HEY2 | C | 99.97 | 100.00 | NM_012259.3 | |
JAG1 | C | 100.00 | 100.00 | NM_000214.3 | |
KMT2D | C | 99.99 | 100.00 | NM_003482.4 | |
KRAS | C | 100.00 | 100.00 | NM_004985.5 | |
LEFTY2 | C | 100.00 | 100.00 | NM_003240.5 | |
MCTP2 | C | 100.00 | 100.00 | NM_001385001.1 | |
MED13L | C | 100.00 | 100.00 | NM_015335.5 | |
MMP21 | C | 100.00 | 100.00 | NM_147191.1 | |
MYH11 | C | 99.55 | 99.99 | NM_002474.3 | |
MYH6 | C | 99.96 | 100.00 | NM_002471.4 | |
MYH7 | C | 99.94 | 100.00 | NM_000257.4 | |
MYRF | C | 100.00 | 100.00 | NM_001127392.3 | |
NAA15 | C | 99.95 | 100.00 | NM_057175.5 | |
NKX2-5 | C | 100.00 | 100.00 | NM_004387.4 | |
NKX2-6 | C | 100.00 | 100.00 | NM_001136271.3 | |
NODAL | C | 100.00 | 100.00 | NM_018055.5 | |
NOTCH1 | C | 99.97 | 99.99 | NM_017617.5 | |
NOTCH2 | C | 99.73 | 99.92 | NM_024408.4 | |
NR2F2 | C | 100.00 | 100.00 | NM_021005.4 | |
PKD1L1 | C | 99.98 | 99.99 | NM_138295.5 | |
PLD1 | C | 99.99 | 100.00 | NM_002662.5 | |
PTPN11 | C | 100.00 | 100.00 | NM_002834.5 | |
RAF1 | C | 100.00 | 100.00 | NM_002880.4 | |
SHROOM3 | C | 100.00 | 100.00 | NM_020859.4 | |
SMAD6 | C | 100.00 | 100.00 | NM_005585.5 | |
SOS1 | C | 99.99 | 100.00 | NM_005633.4 | |
TAB2 | C | 100.00 | 100.00 | NM_001292034.3 | |
TBX1 | C | 85.9 | 89.95 | NM_001379200.1 | |
TBX20 | C | 100.00 | 100.00 | NM_001077653.2 | |
TBX5 | C | 100.00 | 100.00 | NM_181486.4 | |
TDGF1 | C | 100.00 | 100.00 | NM_003212.4 | |
TFAP2B | C | 100.00 | 100.00 | NM_003221.4 | |
TLL1 | C | 100.00 | 100.00 | NM_012464.5 | |
TNNI3K | C | 99.1 | 99.93 | NM_015978.3 | |
ZFPM2 | C | 100.00 | 100.00 | NM_012082.4 | |
ZIC3 | C | 99.72 | 100.00 | NM_003413.4 |
Indicatie(s) |
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Aangeboren hartafwijkingen |
Congenitale hartafwijkingen / Tetralogie van Fallot |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C