Miocardiopatia e arritmia: painel de genes por NGS
Especialidade(s) / Outra(s) Especialidade(s)
Cardiologia
Cardiologia Pediátrica, Medicina Interna
Metodologia
NGS, com CNVs
Código SNS
34900
OMIM
–
Nº de Genes
228
Lista de Genes / Mutações
A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKAP9, ALG10, ALMS1, ALPK3, ANK2, ANKRD1, ANO5, ATP5E, ATPAF2, BAG3, BRAF, BSCL2, CACNA1C, CACNA1D, CACNA2D1, CALM1, CALM2, CALM3, CALR3, CAPN3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CHRM2, COA5, COA6, COQ2, COX15, COX6B1, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DLD, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSG3, DSP, DTNA, ELAC2, EMD, EPG5, EYA4, FAH, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GFM1, GJA1, GJA5, GLA, GLB1, GNPTAB, GPD1L, GUSB, HAMP, HCN4, HFE, HFE2, HRAS, IDH2, ILK, JPH2, JUP, KCNA1, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNK3, KCNQ1, KCNQ2, KCNT1, KLF10, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LIAS, LMNA, LRRC10, LZTR1, MAP2K1, MAP2K2, MED12, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYO6, MYOM1, MYOT, MYOZ1, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NKX2-6, NNT, NPPA, NRAS, OBSCN, PDHA1, PDLIM3, PHKA1, PITX2, PKP2, PLEKHM2, PLN, PMM2, PPA2, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAB3GAP2, RAF1, RANGRF, RASA1, RASA2, RBM20, RIT1, RPL3L, RRAS, RYR2, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN9A, SCO2, SDHA, SEMA3A, SGCA, SGCB, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLC40A1, SLMAP, SNTA1, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TAB2, TAZ, TBX20, TBX5, TCAP, TFR2, TGFB3, TJP1, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, XK
TAT
2 a 3 meses
Tipo de Amostra
Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.