Técnica:
NGS
Genes Variantes:
237 genes (A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKT1, ALMS1, ALPK3, ANK2, ANKRD1, ANO5, ARSB, ATP5F1E, ATPAF2, BAG3, BRAF, BSCL2, C10orf71, CACNA1C, CALR3, CASQ2, CASZ1, CAV3, CAVIN4, CBL, CDH2, CHRM2, COA5, COA6, COL7A1, COQ2, COX10, COX14, COX15, COX20, COX6B1, CPT2, CRYAB, CSRP3, CTNNA1, CTNNA3, CTNNB1, DES, DLD, DMD, DNAJC19, DNM1L, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EPG5, EYA4, FAH, FBXO32, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXRED1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GFM1, GLA, GLB1, GNPTAB, GSK3B, GUSB, GYG1, HADHA, HADHB, HCN4, HFE, HRAS, IDH2, ILK, ISM2, JARID2, JPH2, JUP, KAT6B, KCNJ2, KCNJ8, KLF10, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LMOD2, LZTR1, MAP2K1, MAP2K2, MAP3K8, MEF2C, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MUT, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOT, MYOZ2, MYPN, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV2, NEBL, NEXN, NF1, NKX2-5, NNT, NONO, NOTCH1, NRAP, NRAS, NUBPL, OBSCN, OPA3, PCCA, PCCB, PDHA1, PDLIM3, PERP, PHKA1, PKD2, PKP2, PKP4, PLN, PMM2, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RASA1, RASA2, RBM20, RBM24, RIT1, RRAS, RYR2, SCN5A, SCO2, SDHA, SDHAF1, SDHD, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SOS1, SOS2, SPEG, SPRED1, SPRY1, SURF1, SYNE1, SYNE2, SYNGAP1, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMEM70, TMOD1, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM54, TRIM63, TSFM, TTN, TTR, TXNRD2, VCL, WISP1, WT1, XK, ZBTB17)
Tipo, Cantidad mínima y conservación de muestra:
Sangre entera en tubo de hemograma, mínimo 2,5mL
