Lista panelurilor de testare genetică a afecțiunilor cardiovasculare ereditare
Panel Aortopatii
ABCC6, ACTA2, ACVR1, ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS,
CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FOXE3,
GORAB, LOX, LTBP4, MFAP5, MYH11, MYLK, PLOD1, PRDM5, PYCR1, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3,
TGFBR1, TGFBR2, ZNF469
Panel Aritmii
ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, GJA5, GNAI2, GPD1L, HCN4,
KCNA5, KCNAB2, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LMNA, MYL4, NPPA, RYR2, SCN10A,
SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TBX5, TECRL, TNNI3, TRDN, TRPM4
Panel Cardiomiopatii
AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AKAP9, ALMS1, ALPK3, ANKRD1, BAG3, CASQ2, CAV3, COA5,
COA6, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, FHL1, FKTN,
FLNC, GAA, GATAD1, GBE1, GLA, GTPBP3, HADHA, HADHB, HCN4, HRAS, ILK, JPH2, JUP, KARS1, LAMA4, LAMP2, LDB3, LMNA,
MIB1, MRPL3, MRPL44, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NDUFB11, NDUFV2, NEBL, NEXN,
PDLIM3, PKP2, PLN, PPA2, PRDM16, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SCO2, SGCD, SLC22A5, SLC25A20, SLC25A3,
SLC25A4, TAFAZZIN, TCAP, TGFB3, TK2, TMEM43, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TSFM, TTN, TTR, VCL
Panel Defecte Cardiace Congenitale
ACTA2, ACTC1, ACVR2B, AFF4, BMPR2, CAD, CFAP53, CDK13, CELSR1, CELSR2, CELSR3, CHD4, CHD7, CITED2, CREBBP,
CRELD1, DNAH11, DNAH5, DNAH6, DNAI1, DTNA, EHMT1, ELN, EVC, EVC2, FBN1, FLNA, FOXC1, FOXH1, GANAB, GATA4, GATA5,
GATA6, GDF1, GPC3, HAND1, HAND2, HRAS, JAG1, KDM5B, KMT2D, MED13L, MMP21, MYH11, MYH6, MYH7, NIPBL, NKX2-5,
NKX2-6, NME7, NODAL, NOTCH1, NOTCH2, NR2F2, PITX2, PKD1L1, PLD1, POGZ, PRDM6, PRKD1, RABGAP1L, RBFOX2, RBM10,
SALL4, SEMA3D, SEMA3E, SMAD6, TAB2, TBX1, TBX20, TBX5, TFAP2B, TGFBR1, TGFBR2, TLL1, TMEM260, TPM1, ZEB2, ZFPM2,
ZIC3
Panel Hipercolesterolemie Familială
ABCA1, ABCG5, ABCG8, APOA5, APOB, APOE, LDLR, LDLRAP1, LIPA, LPL, PCSK9
Panel Hipertensiune Pulmonară
ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, KCNA5, KCNK3, SMAD4, SMAD9, TBX4
Panel RASopatii
AKT3, BRAF, CBL, CCND2, EPHB4, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NF2, NRAS, PIK3CA, PIK3R2, PPP1CB,
PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, STAMBP
Panel Extins 292 gene
AARS2, ABCA1, ABCC6, ABCC9, ABCG5, ABCG8, ACAD9, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2, ACVR1, ACVR2B, ACVRL1,
ADAMTS2, AFF4, AGK, AKAP9, AKT3, ALDH18A1, ALMS1, ALPK3, ANK2, ANKRD1, APOA5, APOB, APOE, ATP6V0A2, ATP6V1A,
ATP6V1E1, B3GALT6, B4GALT7, BAG3, BGN, BMPR1B, BMPR2, BRAF, C1R, C1S, CACNA1C, CACNA2D1, CACNB2, CAD, CALM1,
CALM2, CALM3, CASQ2, CAV1, CAV3, CBL, CBS, CFAP53, CCND2, CDK13, CELSR1, CELSR2, CELSR3, CHD4, CHD7, CHST14,
CITED2, COA5, COA6, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, COX15, CPT2, CREBBP, CRELD1, CRYAB, CSRP3,
CTNNA3, DES, DMD, DNAH11, DNAH5, DNAH6, DNAI1, DNAJC19, DOLK, DSC2, DSE, DSG2, DSP, DTNA, EFEMP2, EHMT1,
EIF2AK4, ELAC2, ELN, EMD, ENG, EPHB4, EVC, EVC2, FBLN5, FBN1, FBN2, FHL1, FKBP14, FKTN, FLNA, FLNC, FOXC1,
FOXE3, FOXH1, GAA, GANAB, GATA4, GATA5, GATA6, GATAD1, GBE1, GDF1, GJA5, GLA, GNAI2, GORAB, GPC3, GPD1L, GTPBP3,
HADHA, HADHB, HAND1, HAND2, HCN4, HRAS, ILK, JAG1, JPH2, JUP, KARS1, KCNA5, KCNAB2, KCND3, KCNE1, KCNE2, KCNE3,
KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KDM5B, KMT2D, KRAS, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LIPA, LMNA,
LOX, LPL, LTBP4, LZTR1, MAP2K1, MAP2K2, MED13L, MFAP5, MIB1, MMP21, MRAS, MRPL3, MRPL44, MTO1, MYBPC3, MYH11,
MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYOZ2, MYPN, NDUFB11, NDUFV2, NEBL, NEXN, NF1, NF2, NIPBL, NKX2-5,
NKX2-6, NME7, NODAL, NOTCH1, NOTCH2, NPPA, NR2F2, NRAS, PCSK9, PDLIM3, PIK3CA, PIK3R2, PITX2, PKD1L1, PKP2,
PLD1, PLN, PLOD1, POGZ, PPA2, PPP1CB, PRDM16, PRDM5, PRDM6, PRKAG2, PRKD1, PTPN11, PYCR1, RABGAP1L, RAF1, RASA1,
RASA2, RBFOX2, RBM10, RBM20, RIT1, RRAS, RYR2, SALL4, SASH1, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2,
SEMA3D, SEMA3E, SGCD, SHOC2, SKI, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A10, SLC39A13, SMAD3, SMAD4, SMAD6,
SMAD9, SMARCB1, SNTA1, SOS1, SOS2, SPRED1, STAMBP, TAB2, TAFAZZIN, TBX1, TBX20, TBX4, TBX5, TCAP, TECRL, TFAP2B,
TGFB2, TGFB3, TGFBR1, TGFBR2, TK2, TLL1, TMEM260, TMEM43, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TSFM,
TTN, TTR, VCL, ZEB2, ZFPM2, ZIC3, ZNF469