Técnica:
NGS
Genes Variantes:
129 genes (ABCC9, ACTA1, ACTC1, ACTN2, AKT1, ALMS1, ALPK3, ANK2, ANKRD1, ANO5, BAG3, BRAF, CALR3, CASZ1, CAV3, CAVIN4, CDH2, CHRM2, COL7A1, CRYAB, CSRP3, DES, DMD, DNAJC19, DNM1L, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EPG5, EYA4, FBXO32, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GATA5, GATA6, GATAD1, GFM1, GLA, GLB1, GSK3B, GYG1, HAMP, HFE, IDH2, ILK, JARID2, JUP, KCNJ2, LAMA2, LAMA4, LAMP2, LDB3, LMNA, LMOD2, MEF2C, MIB1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYOT, MYPN, NEBL, NEXN, NKX2-5, NONO, NRAP, OBSCN, OPA3, PDLIM3, PKD2, PKP2, PLN, PPA2, PPCS, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAB3GAP2, RAF1, RBM20, RBM24, RYR2, SCN1B, SCN5A, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, SPEG, SYNE1, SYNE2, TAZ, TBX20, TCAP, TFR2, TMEM43, TMOD1, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM63, TTN, TTR, TXNRD2, VCL, WISP1, XK, ZBTB17)
Tipo, Cantidad mínima y conservación de muestra:
Sangre entera en tubo de hemograma, mínimo 2,5mL
