PARREX - PAINEL DE ARRITMIAS EXPANDIDO

Painel de NGS no qual é realizado o sequenciamento completo (éxons e regiões intrônicas flanqueadoras) e avaliação do número de cópias (CNV) por sequenciamento de nova geração (NGS) de 312 genes relacionados a diversas formas de arritmias hereditárias, incluindo Síndrome de Brugada, Síndrome do QT Longo, Síndrome do QT Curto, entre outros. Este painel também inclui genes ligados a cardiomiopatias. Arritmias cardíacas são difunções cardiovasculares apresentando anomalias nos batimentos cardíacos irregulares, e são geralmente causadas por cardiopatias. Quando hereditárias, são causadas por variantes alélicas de genes relacionados à constituição ou função de canais proteicos que regulam a atividade elétrica do coração, como os de cálcio, sódio e potássio.

Arritmia cardíaca

AARS2, ABCC6, ABCC9, ACAD8, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK, AGL, AHCY, ALG1, ALG12, ALMS1, ALPK3, ANK2, ANKS6, ARSB, ATAD3A, ATP5F1E, ATPAF2, BAG3, BCS1L, BMP2, BOLA3, BRAF, BSCL2, C1QBP, C1QTNF5, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CALR3, CAP2, CASQ2, CAV3, CAVIN1, CENPE, CEP19, CHKB, CLIC2, CLN3, COA5, COA6, COA8, COQ2, COQ4, COX10, COX14, COX15, COX20, COX6B1, COX7B, CPT1A, CPT2, CRYAB, CSRP3, CTNNA3, D2HGDH, DCAF8, DES, DIP2A, DLD, DMD, DNAJC19, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, ECHS1, ELAC2, EMD, EPG5, ERBB3, EYA4, FAH, FASTKD2, FBXL4, FHL1, FHOD3, FIG4, FKRP, FKTN, FLAD1, FLNC, FNIP1, FOXRED1, FTO, FUCA1, FXN, GAA, GATAD1, GBE1, GJA5, GLA, GLB1, GMPPB, GNAI2, GNB5, GNPTAB, GNS, GPC3, GPD1L, GSN, GTPBP3, GYS1, HADH, HADHA, HADHB, HCCS, HCN4, HGSNAT, HPS1, HRAS, HSD17B10, IDH2, IDUA, ITPA, JPH2, JUP, KCNA5, KCND3, KCNE2, KCNE3, KCNH1, KCNH2, KCNJ2, KCNJ5, KCNQ1, KIF20A, LAMA4, LAMP2, LDB3, LIAS, LMNA, MAP2K1, MAP2K2, MCCC2, MCM10, MGME1, MIB1, MLYCD, MMUT, MRPL3, MRPL44, MRPS22, MRPS7, MT TI, MTFMT, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYO6, MYOT, MYOZ2, MYPN, NAGLU, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1NDUFV2, NEU1, NEXN, NKX2-5, NONO, NPPA, NRAP, NUBPL, NUP155, PAM16PCCA, PCCB, PET100, PGM1, PHYH, PIGT, PKP2, PLEKHM2, PLN, PMM2, PNPLA2POLG, POMT1, PPCS, PPP1R13L, PRDM16, PRG4, PRKAG2, PRKAR1A, PSEN1PSEN2, PSMB4, PSMB8, PSMB9, RAB3GAP2, RAF1, RBCK1, RBM20, RIT1, RMND1, RPL3L, RRAGD, RYR2, SCN1B, SCN2B, SCN3B, SCN5A, SCO1, SCO2SDHA, SDHAF1, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SGSH, SHMT2SHOC2, SLC19A2, SLC22A5, SLC25A20, SLC25A26, SLC25A3, SLC25A4, SLC30A5, SLC6A6, SOD2, SOS1, SPEG, SURF1, SYNE1, SYNE2, TACO1, TAF1A, TANGO2, TAPT1, TAZ, TBX1, TBX3, TBX5, TCAP, TECRL, TF, TGFB3, TIMMDC1TMEM126A, TMEM126B, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOP3A, TOR1AIP1, TPM1, TPM3, TRDN, TRIT1, TRMT5, TRNT1, TRPM7, TSC1TSFM, TTN, TTR, TWNK, UBR1, UQCRFS1, VCL, VPS33A, WFS1, XK, XPNPEP3, YARS2, (312).