Técnica:
NGS
Genes Variantes:
344 genes (A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADAMTS2, ADAMTSL4, AGK, AGL, AGPAT2, AKAP9, AKT1, ALMS1, ALPK3, ANK2, ANK3, ANKRD1, ANO5, ARSB, ATP5F1E, ATP7A, ATPAF2, B3GAT3, B4GALT7, BAG3, BGN, BRAF, BSCL2, C10orf71, C1R, C1S, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR, CALR3, CASQ2, CASZ1, CAV3, CAVIN1, CAVIN4, CBL, CBS, CDH2, CHRM2, CHST14, CLCA2, COA5, COA6, COL12A1, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COQ2, COX10, COX14, COX15, COX20, COX6B1, CPT2, CRYAB, CSRP3, CTNNA1, CTNNA3, CTNNB1, DES, DLD, DMD, DNAJC19, DNM1L, DOLK, DSC2, DSE, DSG2, DSP, DTNA, EFEMP2, ELAC2, ELN, EMD, EPG5, EYA4, FAH, FBN1, FBN2, FBXO32, FGF12, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLNA, FLNC, FOXE3, FOXRED1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GFM1, GJA1, GJA5, GLA, GLB1, GNB2, GNPTAB, GPD1L, GREM2, GSK3B, GUSB, GYG1, HADHA, HADHB, HAMP, 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, LAMA4, LAMP2, LDB3, LDLR, LIAS, LMNA, LMOD2, LOX, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAT2A, MED12, MEF2C, MFAP5, MIB1, MLYCD, MMADHC, MRPL3, MRPL44, MRPS22, MTHFR, MTO1, MTR, MTRR, MUT, MYBPC3, MYBPHL, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, 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, NKX2-6, NNT, NONO, NOS1AP, NOTCH1, NPPA, NRAP, NRAS, NUBPL, OBSCN, OPA3, PCCA, PCCB, PDHA1, PDLIM3, PERP, PHKA1, PIEZO2, PITX2, PKD1, PKD2, PKP2, PKP4, PLN, PLOD1, PMM2, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRDM5, PRKAG2, PRKG1, PSEN1, PSEN2, PTPN11, QRSL1, RAB3GAP2, RAF1, RANGRF, RASA1, RASA2, RBM20, RBM24, RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SDHAF1, SDHD, SGCA, SGCB, SGCD, SGCG, SHOC2, SKI, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A10, SLC39A13, SLMAP, SMAD2, SMAD3, SMAD4, SNTA1, SOS1, SOS2, SPEG, SPRED1, SPRY1, SURF1, SYNE1, SYNE2, SYNGAP1, TAZ, TBX20, TBX3, TBX5, TCAP, TECRL, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM175, TMEM43, TMEM70, TMOD1, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TOR1AIP1, TPM1, TRDN, TRIM54, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, WISP1, WT1, XK, ZBTB17, ZDHHC9, ZFHX3, ZNF469)
Tipo, Cantidad mínima y conservación de muestra:
Sangre entera en tubo de hemograma, mínimo 2,5mL
