Técnica:
NGS
Genes Variantes:
245 genes (ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKAP9, AKT1, ALMS1, COL1A2, COL3A1, COL4A1, ANKRD1, ANO5, ATP5F1E, ATPAF2, BAG3, BRAF, BSCL2, C10orf71, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR, CALR3, CASQ2, CASZ1, CAV3, CAVIN1, CAVIN4, CBL, CDH2, CHRM2, CLCA2, COA5, COA6, COL7A1, COQ2, COX15, COX6B1, CRYAB, CSRP3, CTNNA1, CTNNA3, CTNNB1, DES, DLD, DMD, DNAJC19, DNM1L, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FAH, FBXO32, FGF12, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXRED1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GFM1, GJA1, GJA5, GLA, GLB1, GNB2, GNPTAB, GPD1L, GREM2, GSK3B, GUSB, GYG1, HCN4, HFE, HRAS, IDH2, ILK, IRX3, ISM2, JARID2, JPH2, JUP, KAT6B, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, KLF10, KLHL24, KRAS, LAMA2, LAMP2, LDB3, LDLR, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOT, MYOZ2, MYPN, NEXN, NF1, NKX2-5, NKX2-6, NNT, NONO, NOS1AP, NOTCH1, NPPA, NRAP, NRAS, OBSCN, OPA3, PDHA1, PDLIM3, PERP, PHKA1, PITX2, PKD2, PKP2, PKP4, PLN, PMM2, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RANGRF, RASA1, RASA2, RBM20, RBM24, RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLMAP, SNTA1, SOS1, SOS2, SPEG, SPRED1, SPRY1, SURF1, SYNE1, SYNE2, SYNGAP1, TAZ, TBX20, TBX3, TBX5, TCAP, TECRL, TGFB3, TMEM175, TMEM43, TMEM70, TMOD1, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM54, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, WISP1, WT1, XK, ZBTB17, ZFHX3)
Tipo, Cantidad mínima y conservación de muestra:
Sangre entera en tubo de hemograma, mínimo 2,5mL
