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Noonanovej syndróm, typ 8
Gén: RIT1
Noonanovej syndróm, typ 1
Gén: PTPN11
Noonanovej syndróm, typ 3
Gén: KRAS
NGS analýza - Syndrómy náhleho srdcového zlyhania
Gén: ACADVL, ACTC1, ACTN2, AKAP9, ANK2, BAG3, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, CSRP3, CTNNA3, DSC2, DSG2, DSP, DTNA, FBN1, FKTN, FLNC, GJA5, GPD1L, HCN4, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, NPPA, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, VCL
NGS analýza - Syndróm dlhého QT intervalu
Gén: AKAP9, ANK2, CACNA1C, CALM1, CALM1, CALM1, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1
NGS analýza - Komplexný panel ochorení srdca
Gén: ABL1, ACADVL, ACTA2, ACTC1, ACTN2, AKAP9, ANK2, BAG3, BGN, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CBS, CDH2, COL1A2, COL3A1, COL4A5, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EFEMP2, ELN, EPG5, EYA4, FBN1, FBN2, FKTN, FLNA, FLNC, GAA, GATA4, GATA6, GJA5, GLA, GPD1L, HCN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, LOX, MAT2A, MFAP5, MYBPC3, MYH6, MYH7, MYH11, MYL2, MYL3, MYLK, MYLK2, MYOZ2, MYPN, NEXN, NKX2-5, NPPA, NOTCH1, PKP2, PLN, PRKAG2, PRKG1, PTPN11, RAF1, RANGRF, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SEMA3A, SGCD, SKI, SLC25A4, SLC2A10, SLMAP, SMAD2, SMAD3, SMAD4, SMAD6, SNTA1, SOS1, TAB2, TAZ, TBX20, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, VCL
NGS analýza - Kardiomyopatie
Gén: ACADVL, ACTC1, ACTN2, ANK2, BAG3, BRAF, CAV3, CDH2, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EPG5, EYA4, FKTN, FLNC, GAA, GATA4, GATA6, GLA, HCN4, JPH2, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, NKX2-5, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SCO2, SGCD, SLC25A4, SOS1, TAB2, TAZ, TBX20, TBX5, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL
NGS analýza - Hypertrofická kardiomyopatia
Gén: ACTC1, ACTN2, CAV3, CSRP3, FLNC, JPH2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, VCL
NGS analýza - Brugadov syndróm
Gén: CACNA1C, CACNB2, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A, SCN10A, SEMA3A, SLMAP, TRPM4
NGS analýza - Dilatačná kardiomyopatia
Gén: ACTC1, ACTN2, BAG3, DES, DSG2, DSP, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, RBM20, SCN5A, SGCD, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
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