- Genetic tests
- Congenital structural heart defects (gene panel)
Congenital structural heart defects (gene panel)
Full name: |
Congenital structural heart defects (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
29 Jul 2019 - 14:09
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Changed: |
16 Dec 2022 - 10:51
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- AATK
- ABL1
- ACAN
- ACTA1
- ACTB
- ACTC1
- ACTG1
- ACTN2
- ACVR1
- ACVR1B
- ACVR2A
- ACVR2B
- ACVRL1
- ADAMTS10
- ADNP
- AKAP12
- AKT1
- AKT2
- ALDH1A2
- ALX3
- ANKRD1
- ANKRD11
- AP1B1
- APAF1
- AR
- ARHGAP31
- ARID4A
- ATP2A2
- ATRX
- AXIN1
- BCOR
- BMP10
- BMP2
- BMP4
- BMP6
- BMP7
- BMPR1A
- BMPR2
- BRAF
- BRIP1
- BVES
- CASQ2
- CAV1
- CAV3
- CBL
- CCDC103
- CCDC39
- CCDC40
- CCDC65
- CCN1
- CCNO
- CD96
- CDK13
- CDK4
- CDX2
- CENPF
- CFAP53
- CFC1
- CHAC2
- CHD4
- CHD7
- CHD8
- CITED2
- COL1A1
- COL1A2
- COL2A1
- COX7B
- CREBBP
- CRELD1
- CRIP2
- CRIPTO
- CRYAB
- CSNK1D
- CSRP1
- CSRP3
- CTNNB1
- DDR2
- DDX3X
- DES
- DIAPH3
- DICER1
- DLGAP5
- DLL1
- DLL4
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAH11
- DNAH5
- DNAH9
- DNAI1
- DNAI2
- DNAJB13
- DRC1
- DSCAM
- DVL1
- DYRK1A
- E2F1
- ECE1
- EDNRA
- EFEMP2
- EFNB1
- EFTUD2
- EGFR
- EGR1
- EHMT1
- ELN
- ENG
- EOGT
- EP300
- EPHB2
- EPHB4
- ERBB2
- ERCC4
- ESR2
- ETS1
- EVC
- EVC2
- EWSR1
- EZH2
- F2R
- FABP3
- FADD
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FBLN1
- FBLN7
- FBN1
- FBN2
- FGF10
- FGF8
- FGFR1
- FGFR2
- FGFR3
- FHL2
- FIBP
- FLII
- FLNA
- FLNC
- FLT1
- FLT4
- FN1
- FOXC1
- FOXC2
- FOXH1
- FOXK2
- FOXL1
- FOXL2
- FOXO1
- FOXP1
- FSCN2
- G6PC3
- GAS8
- GATA2
- GATA4
- GATA5
- GATA6
- GATAD2B
- GDF1
- GDF11
- GDF5
- GDNF
- GJA1
- GJA5
- GJD2
- GLB1
- GLI2
- GLI3
- GPC3
- GPC5
- GPC6
- GRK5
- GTF2I
- GTF2IRD1
- HAND1
- HAND2
- HDAC8
- HES4
- HEY2
- HHAT
- HIF1A
- HMGB2
- HNF1A
- HNF4A
- HOXA1
- HOXB2
- HRAS
- HSPB1
- HSPB8
- HSPG2
- HYDIN
- ID2
- IGF1R
- IGFBP4
- IKBKB
- ILK
- INHBA
- INHBC
- INPP5D
- INSR
- IRS1
- IRX4
- ISL1
- ITGAV
- ITGB1
- ITGB3
- ITGB4
- JAG1
- JAM3
- JUN
- KANSL1
- KAT6A
- KAT6B
- KDM3B
- KDM5A
- KDM5B
- KDM6A
- KDR
- KIT
- KMT2D
- KRAS
- KREMEN1
- LAMA2
- LAMA5
- LAMC1
- LBR
- LEFTY1
- LEFTY2
- LHX3
- LMNA
- LMX1B
- LRP2
- LTBP1
- LTBP3
- LZTR1
- MAFG
- MAP2K1
- MAP2K2
- MAPK14
- MCTP2
- MECOM
- MED13L
- MEF2C
- MEGF8
- MESP1
- MET
- METTL3
- MGP
- MID1
- MITF
- MMP2
- MMP21
- MSX1
- MTHFD1
- MTHFR
- MTRR
- MYBPC3
- MYC
- MYH10
- MYH11
- MYH6
- MYH7
- MYH9
- MYL2
- MYL3
- MYL7
- MYOCD
- MYOM1
- MYOZ2
- NF1
- NFATC1
- NFIX
- NFKB1
- NID2
- NIPBL
- NKX2-1
- NKX2-5
- NKX2-6
- NME8
- NNMT
- NODAL
- NONO
- NOS3
- NOTCH1
- NOTCH2
- NOTCH3
- NPHP3
- NPHP4
- NPPA
- NR2F2
- NR4A2
- NRAS
- NRP1
- NRP2
- NSD1
- ODAD1
- ODAD2
- ODAD3
- ODAD4
- OTX2
- PACS1
- PAX3
- PCSK5
- PDGFC
- PDGFRA
- PDGFRB
- PDHX
- PIGA
- PIGL
- PIGN
- PIGT
- PITX2
- PKD1L1
- PLAGL1
- PLAT
- POU5F1
- PPARG
- PPARGC1A
- PPP3CA
- PRKACA
- PRKD1
- PROX1
- PRRX1
- PSEN1
- PSEN2
- PTEN
- PTK2
- PTP4A3
- PTPN11
- PUF60
- RAB23
- RAD21
- RAD51C
- RAF1
- RAI1
- RAI2
- RARB
- RARG
- RB1
- RBBP7
- RBL2
- RBM10
- RBM8A
- RELA
- RERE
- RET
- RGS19
- RIT1
- RNF20
- ROR2
- RPGR
- RPL11
- RPL15
- RPL26
- RPL35A
- RPL5
- RPS10
- RPS17
- RPS19
- RPS24
- RPS26
- RPS28
- RPS29
- RPS7
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- RYR2
- SALL1
- SALL4
- SCN5A
- SESN1
- SF3B4
- SGCA
- SH3PXD2B
- SHH
- SHOC2
- SLC19A1
- SLC25A4
- SLC2A10
- SLX4
- SMAD2
- SMAD3
- SMAD4
- SMAD6
- SMARCE1
- SMC1A
- SMC3
- SMG9
- SOS1
- SOS2
- SOX2
- SOX4
- SP1
- SPAG1
- SPATC1L
- SPECC1L
- SRCAP
- SRF
- STAT3
- STRA6
- SUZ12
- TAB2
- TBX1
- TBX2
- TBX20
- TBX3
- TBX5
- TBX6
- TCAP
- TCF21
- TCF3
- TCN2
- TEAD1
- TEK
- TFAP2A
- TFAP2B
- TFAP2C
- TGFB1
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TGIF1
- THBS1
- THBS4
- THOC5
- THRB
- TLL1
- TNFRSF11A
- TNFRSF1A
- TNNI3
- TNNT2
- TNR
- TP53
- TP73
- TPM1
- TRPM2
- TSR2
- TTN
- TWIST1
- UBE2B
- UBE2T
- USP44
- USP9X
- VCAN
- VDR
- VEGFA
- VEGFC
- WASHC5
- WDR5
- WNT11
- WT1
- YY1
- ZEB2
- ZFHX3
- ZFPM2
- ZIC3
- ZMYND10
-
Congenital structural heart defects - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AATK 99.98 1 ABL1 100.00 1 ACAN 91.51 1 ACTA1 99.99 1 ACTB 100.00 1 ACTC1 98.57 1 ACTG1 100.00 1 ACTN2 99.99 1 ACVR1 99.94 1 ACVR1B 99.99 1 ACVR2A 99.15 1 ACVR2B 99.99 1 ACVRL1 99.88 1 ADAMTS10 99.99 1 ADNP 100.00 1 AKAP12 100.00 1 AKT1 100.00 1 AKT2 99.85 1 ALDH1A2 99.97 1 ALX3 99.74 1 ANKRD1 99.57 1 ANKRD11 99.85 1 AP1B1 99.99 1 APAF1 98.70 1 AR 99.76 1 ARHGAP31 100.00 1 ARID4A 99.90 1 ATP2A2 99.98 1 ATRX 99.44 1 AXIN1 100.00 1 BCOR 99.97 1 BMP10 99.96 1 BMP2 99.79 1 BMP4 100.00 1 BMP6 100.00 1 BMP7 100.00 1 BMPR1A 99.58 1 BMPR2 99.95 1 BRAF 99.78 1 BRIP1 99.39 1 BVES 99.83 1 CASQ2 94.39 1 CAV1 99.97 1 CAV3 100.00 1 CBL 99.95 1 CCDC103 99.68 1 CCDC39 99.74 1 CCDC40 100.00 1 CCDC65 99.80 1 CCN1 99.99 1 CCNO 100.00 1 CD96 99.91 1 CDK13 99.83 1 CDK4 100.00 1 CDX2 100.00 1 CENPF 99.97 1 CFAP53 99.95 1 CFC1 21.93 1 CHAC2 99.68 1 CHD4 99.99 1 CHD7 99.99 1 CHD8 99.96 1 CITED2 100.00 1 COL1A1 99.90 1 COL1A2 99.34 1 COL2A1 99.87 1 COX7B 99.86 1 CREBBP 99.97 1 CRELD1 99.99 1 CRIP2 99.99 1 CRYAB 100.00 1 CSNK1D 99.99 1 CSRP1 99.75 1 CSRP3 100.00 1 CTNNB1 99.95 1 DDX3X 99.01 1 DES 100.00 1 DIAPH3 99.85 1 DICER1 99.96 1 DLGAP5 99.83 1 DLL1 99.99 1 DLL4 100.00 1 DNAAF1 99.99 1 DNAAF11 99.80 1 DNAAF2 99.91 1 DNAAF3 99.99 1 DNAAF4 99.78 1 DNAAF5 99.99 1 DNAH11 99.93 1 DNAH5 99.98 1 DNAI1 99.92 1 DNAI2 99.86 1 DNAJB13 99.91 1 DNAH9 99.79 1 DRC1 99.93 1 DSCAM 99.99 1 DVL1 100.00 1 DYRK1A 99.98 1 E2F1 99.99 1 ECE1 99.92 1 EDNRA 99.97 1 EFEMP2 99.94 1 EFNB1 99.95 1 EFTUD2 99.93 1 EGFR 99.68 1 EGR1 99.99 1 EHMT1 98.38 1 ELN 99.86 1 ENG 100.00 1 EOGT 99.09 1 EP300 99.97 1 EPHB2 99.86 1 EPHB4 99.82 1 ERBB2 99.98 1 ERCC4 99.92 1 ESR2 99.96 1 ETS1 99.99 1 EVC 99.95 1 EVC2 99.97 1 EWSR1 99.94 1 EZH2 99.89 1 F2R 99.98 1 FABP3 99.87 1 FADD 99.97 1 FANCA 100.00 1 FANCB 99.24 1 FANCC 99.98 1 FANCD2 99.86 1 FANCE 99.99 1 FANCF 100.00 1 FANCG 100.00 1 FANCI 99.96 1 FANCL 99.67 1 FBLN1 98.69 1 FBLN7 99.95 1 FBN1 99.85 1 FBN2 99.90 1 FGF10 99.95 1 FGF8 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FHL2 100.00 1 FIBP 99.83 1 FLII 100.00 1 FLNA 99.99 1 FLNC 99.99 1 FLT1 99.99 1 FLT4 97.93 1 FN1 99.95 1 FOXC1 100.00 1 FOXC2 100.00 1 FOXH1 100.00 1 FOXK2 99.76 1 FOXL1 100.00 1 FOXL2 99.97 1 FOXO1 100.00 1 FOXP1 99.98 1 FSCN2 100.00 1 G6PC3 99.98 1 GAS8 100.00 1 GATA2 99.99 1 GATA4 99.99 1 GATA5 100.00 1 GATA6 99.90 1 GATAD2B 99.44 1 GDF1 100.00 1 GDF11 99.97 1 GDF5 100.00 1 GDNF 99.99 1 GJA1 100.00 1 GJA5 100.00 1 GJD2 99.99 1 GLB1 100.00 1 GLI2 99.93 1 GLI3 100.00 1 GPC3 99.60 1 GPC5 99.96 1 GPC6 99.98 1 GRK5 99.97 1 GTF2I 47.18 1 GTF2IRD1 99.77 1 HAND1 99.99 1 HAND2 99.97 1 HDAC8 99.74 1 HES4 100.00 1 HEY2 99.75 1 HIF1A 99.87 1 HMGB2 99.99 1 HNF1A 100.00 1 HNF4A 100.00 1 HOXA1 100.00 1 HOXB2 99.99 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HYDIN 81.28 1 ID2 100.00 1 IGF1R 100.00 1 IGFBP4 99.85 1 IKBKB 99.93 1 ILK 100.00 1 INHBA 99.98 1 INHBC 99.99 1 INPP5D 99.98 1 INSR 99.99 1 IRS1 100.00 1 IRX4 99.99 1 ISL1 99.99 1 ITGAV 99.40 1 ITGB1 99.96 1 ITGB3 99.83 1 ITGB4 99.99 1 JAG1 100.00 1 JAM3 100.00 1 JUN 100.00 1 KANSL1 99.85 1 KAT6A 99.93 1 KAT6B 99.79 1 KDM3B 99.98 1 KDM5A 99.90 1 KDM5B 97.15 1 KDM6A 99.74 1 KDR 99.86 1 KIT 99.86 1 KMT2D 99.98 1 KRAS 99.13 1 KREMEN1 99.88 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMC1 99.55 1 LBR 99.66 1 LEFTY1 99.98 1 LEFTY2 100.00 1 LHX3 99.99 1 LMNA 99.96 1 LMX1B 100.00 1 LRP2 99.86 1 LTBP1 99.95 1 LTBP3 99.96 1 LZTR1 99.46 1 MAFG 100.00 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK14 99.95 1 MCTP2 99.99 1 MECOM 99.97 1 MED13L 99.99 1 MEF2C 99.57 1 MEGF8 99.90 1 MESP1 100.00 1 MET 99.97 1 METTL3 99.98 1 MGP 99.95 1 MID1 99.90 1 MITF 99.98 1 MMP2 99.96 1 MMP21 99.99 1 MSX1 100.00 1 MTHFD1 100.00 1 MTHFR 99.97 1 MTRR 99.98 1 MYBPC3 99.98 1 MYC 100.00 1 MYH10 99.91 1 MYH11 99.16 1 MYH6 100.00 1 MYH7 99.99 1 MYH9 99.95 1 MYL2 99.99 1 MYL3 99.99 1 MYL7 99.95 1 MYOCD 99.99 1 MYOM1 99.98 1 MYOZ2 99.99 1 NF1 99.88 1 NFATC1 100.00 1 NFIX 99.99 1 NFKB1 99.80 1 NID2 99.97 1 NIPBL 99.34 1 NKX2-1 100.00 1 NKX2-5 99.75 1 NKX2-6 100.00 1 NME8 99.83 1 NNMT 100.00 1 NODAL 99.98 1 NONO 99.94 1 NOS3 93.73 1 NOTCH1 99.98 1 NOTCH2 99.03 1 NOTCH3 99.99 1 NPHP3 99.89 1 NPHP4 99.98 1 NPPA 100.00 1 NR2F2 100.00 1 NR4A2 99.97 1 NRAS 99.66 1 NRP1 99.99 1 NRP2 99.98 1 NSD1 99.98 1 ODAD1 96.04 1 ODAD2 98.19 1 ODAD3 99.96 1 ODAD4 99.85 1 OTX2 100.00 1 PACS1 99.96 1 PAX3 100.00 1 PCSK5 99.97 1 PDGFC 99.97 1 PDGFRA 99.94 1 PDGFRB 99.99 1 PDHX 100.00 1 PIGA 99.81 1 PIGL 99.98 1 PIGN 99.91 1 PIGT 99.95 1 PITX2 99.98 1 PKD1L1 99.84 1 PLAGL1 99.96 1 PLAT 99.99 1 POU5F1 100.00 1 PPARG 99.96 1 PPARGC1A 99.82 1 PPP3CA 99.84 1 PRKACA 99.95 1 PRKD1 99.96 1 PROX1 99.98 1 PRRX1 99.56 1 PSEN1 100.00 1 PSEN2 99.97 1 PTEN 99.89 1 PTK2 99.97 1 PTP4A3 99.99 1 PTPN11 99.98 1 PUF60 100.00 1 RAB23 99.97 1 RAD21 99.91 1 RAD51C 99.02 1 RAF1 99.97 1 RAI1 99.22 1 RAI2 99.98 1 RARB 99.99 1 RARG 99.98 1 RB1 99.84 1 RBBP7 99.87 1 RBL2 99.44 1 RBM10 99.98 1 RBM8A 99.37 1 RELA 99.99 1 RERE 99.94 1 RET 99.97 1 RGS19 99.88 1 RIT1 99.78 1 RNF20 99.93 1 ROR2 99.99 1 RPGR 94.45 1 RPL11 99.81 1 RPL15 31.77 1 RPL26 30.55 1 RPL35A 97.55 1 RPL5 28.81 1 RPS10 0.00 1 RPS17 100.00 1 RPS19 100.00 1 RPS24 91.48 1 RPS26 8.99 1 RPS28 100.00 1 RPS29 99.96 1 RPS7 88.50 1 RSPH1 99.87 1 RSPH3 99.94 1 RSPH4A 99.95 1 RSPH9 99.99 1 RYR2 99.94 1 SALL1 100.00 1 SALL4 100.00 1 SCN5A 100.00 1 SESN1 99.95 1 SF3B4 99.65 1 SGCA 100.00 1 SH3PXD2B 100.00 1 SHH 100.00 1 SHOC2 99.96 1 HHAT 99.98 1 SLC19A1 99.99 1 SLC25A4 100.00 1 SLC2A10 100.00 1 SLX4 100.00 1 SMAD2 99.92 1 SMAD3 99.99 1 SMAD4 99.97 1 SMAD6 100.00 1 SMARCE1 99.87 1 SMC1A 99.98 1 SMC3 99.91 1 SMG9 99.99 1 SOS1 99.68 1 SOS2 99.39 1 SOX2 100.00 1 SOX4 99.36 1 SP1 99.98 1 SPAG1 99.78 1 SPATC1L 99.99 1 SPECC1L 99.98 1 SRCAP 99.99 1 SRF 99.99 1 STAT3 99.97 1 STRA6 99.95 1 SUZ12 98.58 1 TAB2 99.75 1 TBX1 99.95 1 TBX2 99.97 1 TBX20 99.99 1 TBX3 100.00 1 TBX5 99.98 1 TBX6 99.99 1 TCAP 100.00 1 TCF21 100.00 1 TCF3 100.00 1 TCN2 100.00 1 CRIPTO 99.82 1 TEAD1 99.97 1 TEK 99.98 1 TFAP2A 100.00 1 TFAP2B 99.98 1 TFAP2C 100.00 1 TGFB1 100.00 1 TGFB2 99.87 1 TGFB3 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TGIF1 100.00 1 THBS1 100.00 1 THBS4 100.00 1 THOC5 99.90 1 THRB 99.82 1 DDR2 97.39 1 TLL1 99.94 1 TNFRSF11A 100.00 1 TNFRSF1A 100.00 1 TNNI3 100.00 1 TNNT2 99.87 1 TNR 99.80 1 TP53 99.98 1 TP73 100.00 1 TPM1 99.92 1 TRPM2 99.99 1 TSR2 99.96 1 TTN 99.15 1 TWIST1 100.00 1 UBE2B 99.94 1 UBE2T 99.89 1 USP44 99.86 1 USP9X 99.84 1 VCAN 99.99 1 VDR 99.86 1 VEGFA 99.99 1 VEGFC 99.96 1 WASHC5 99.98 1 WDR5 100.00 1 WNT11 100.00 1 WT1 99.99 1 YY1 100.00 1 ZEB2 99.97 1 ZFHX3 99.96 1 ZFPM2 100.00 1 ZIC3 99.90 1 ZMYND10 99.99 1