Cuantificación de la mutación p.V617F en el gen JAK2 mediante ddPCR

Estudio de 3 mutaciones en los genes IDH1 (R132H) y IDH2 (R172W, R140Q)

Estudio de la mutación T315I del dominio quinasa del gen de fusión BCR-ABL

FISH Perfil SÍNDROME MIELOPROLIFERATIVO CRÓNICO (SMPC)

Estudio de la mutación W515L/K en el gen MPL

MIELOPROLIFERATIVO CRONICO (SMC), SÍNDROME · MPL(S505N) · HOT SPOT

Panel neoplasia mieloide. SNVs: ARID5B, ASXL1, ASXL2, ATRX, BCOR, BCORL1, BLNK, BRAF, CALR, CBL, CDKN2A, CDKN2B, CEBPA, CHIC2, CREBBP, CSF3R, CSNK1A1, CUX1, DDX3X, DDX41, DNMT3A, EP300, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA1, GATA2, GATA3, HAVCR2, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KIT, KMT2A, KMT2C, KRAS, MPL, NF1, NFE2, NOTCH1, NPM1, NR3C1, NRAS, P2RY8, PAX5, PHF6, PIGA, PPM1D, PTEN, PTK2B, PTPN11, RAD21, RB1, RUNX1, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRP72, SRSF2, STAG1, STAG2, STAT5B, TET2, TP53, TYK2, U2AF1, WT1, ZRSR2 Fusiones: ABL1, ABL2, BCR, CBFA2T3, CBFB, CSF1R, EPOR, ETV6, FGFR1, FUS, JAK2, KMT2A, MEF2D, MNX1, MYH11, NPM1, NUP214, NUP98, PDGFRA, PDGFRB, RARA, RBM15, RUNX1, SETBP1, STIL, TAL1, TCF3 CNVs

Panel oncohematológico (linfomas y mielomas). SNVs: ABL1, ANKRD26, ARID1A, ARID2, ASXL1, ATM, B2M, BCL2, BCL6, BCOR, BCORL1, BCR, BIRC3, BRAF, BTG1, BTG2, BTK, CALR, CARD11, CBL, CCND3, CD58, CD79A, CD79B, CDKN2A, CDKN2B, CEBPA, CREBBP, CSF3R, CSNK1A1, CUX1, CXCR4, DDX3X, DDX41, DNMT3A, EBF1, EGR2, EP300, ERG, ETV6, EZH2, FBXW7, FLT3, FOXO1, GATA1, GATA2, GNA13, GNAQ, HRAS, ID3, IDH1, IDH2, IKZF1, IRF4, JAK1, JAK2, JAK3, KIT, KLF2, KMT2A, KMT2C, KMT2D, KRAS, MAP2K1, MECOM, MEF2B, MGA, MPL, MYC, MYD88, NF1, NFKBIE, NOTCH1, NOTCH2, NPM1, NRAS, NT5C2, PAX5, PDGFRA, PHF6, PIK3CA, PIK3CD, PIK3CG, PIM1, PLCG2, POT1, PPM1D, PRDM1, PSMB5, PTEN, PTPN11, RAD21, RHOA, RPN1, RPS15, RUNX1, SAMD9, SBDS, SESN1, SETBP1, SETD2, SF1, SF3A1, SF3B1, SMC3, SOCS1, SOCS2, SRSF2, STAG2, STAT3, STAT5B, TCF3, TENT5C, TERT, TET2, TNFAIP3, TP53, TRAF2, TRAF3, U2AF1, USP7, WT1, XBP1, XPO1, ZRSR2. Fusiones: ABL1, ABL2, AFF1, ALK, BCL2, BCL6, BCR, BIRC3, CBFB, CCND2, CCND3, CIITA, CREBBP, CRLF2, CSF1R, DEK, DUSP22, EPOR, ETV6, FGFR1, FGFR2, FGFR3, FIP1L1, FOXP1, GATA2, HLF, IL3, IRF4, JAK2, KAT6A, KMT2A, LYL1, MALT1, MECOM, MEF2D, MLLT3, MYC, MYH11, NTRK1, NTRK2, NTRK3, NUP214, PBX1, PCM1, PDGFRA, PDGFRB, PML, RARA, RUNX1, RUNX1T1, TAL1, TBL1XR1, TCF3, TCL1A, TLX1, TLX3, TP63

Secuenciación masiva y cribado bioinformático de CNVs, panel de 15 genes: ATP1A2, ATP1A3, CACNA1A, COL4A1, COL4A2, CSNK1D, KCNK18, NOTCH3, PNKD, PRRT2, SCN1A, SLC1A3, SLC2A1, SLC4A4, TREX1

DAO: mutaciones gen AOC1 (rs1049793, rs1049742, rs2052129, rs10156191)

Detección de deleciones/duplicaciones en los genes ATP1A2 y CACNA1A mediante MLPA

Secuenciación masiva y cribado bioinformático de CNVs, panel de 3 genes: ATP1A2, CACNA1A, SCN1A

Secuenciación Sanger del gen DHODH

Secuenciación masiva y cribado bioinformático de CNVs, panel de 26 genes: ACTN2, BAG3, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, JUP, LDB3, LMNA, MYH7, NKX2-5, PKP2, PLN, PPA2, PPP1R13L, PRKAG2, RBM20, RYR2, SCN5A, SLC22A5, TGFB3, TMEM43

Detección de deleciones/duplicaciones en el gen LMNA mediante MLPA

Secuenciación masiva y cribado bioinformático de CNVs, panel de 128 genes: ABCC9, ACAD9, ACTA1, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, ANO5, BAG3, BAG5, CAP2, CASZ1, CAV3, CAVIN4, CDH2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, EMD, EPG5, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLII, FLNC, GATA4, GATA5, GATAD1, GATC, GBE1, GET3, GLA, GLB1, HADHB, HAND1, HAND2, HCN4, ILK, ISL1, JPH2, JUP, KLHL24, LAMA4, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, MEF2C, MIB1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYLK3, MYPN, MYZAP, NDUFB11, NEBL, NEXN, NKX2-5, NONO, NRAP, PCCA, PCCB, PDLIM3, PGM1, PKP2, PLEKHM2, PLN, PPA2, PPCS, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, QRSL1, RAB3GAP2, RAF1, RBM20, RPL3L, RYR2, SCN5A, SDHA, SDHD, SGCA, SGCB, SGCD, SLC22A5, SPEG, SYNE1, SYNE2, TAFAZZIN, TBX20, TBX5, TCAP, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TSFM, TTN, TTR, TXNRD2, VCL, VEZF1, XK, ZBTB17

Secuenciación masiva y cribado bioinformático de CNVs, panel BASICO de 61 genes: ABCC9, ACTC1, ACTN2, ALPK3, ANKRD1, BAG3, CDH2, CRYAB, CSRP3, CTF1, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FKRP, FKTN, FLII, FLNC, ILK, JPH2, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYLK3, MYPN, MYZAP, NEBL, NEXN, NKX2-5, NRAP, PKP2, PLN, PPA2, PRDM16, RBM20, RPL3L, RYR2, SCN5A, SGCD, SLC22A5, SPEG, TAFAZZIN, TBX20, TCAP, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, VCL

Secuenciación Sanger del gen TNNI3

Secuenciación Sanger del gen TNNI3

Secuenciación masiva y cribado bioinformático de CNVs, panel de 212 genes: AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, ALPK3, ANK2, ANKRD1, ATP5F1E, ATPAF2, ATP6V1A, B3GAT3, BAG3, BRAF, BSCL2, C1QBP, CALR3, CACNA1C, CAV3, CASQ2, CBL, CDH2, COA5, COA6, COQ2, COX15, COX6B1, CRYAB, CSRP3, DES, DLD, ELAC2, FAH, FHL1, FHL2, FHOD3, FLNC, FOXRED1, FXN, GAA, GATA6, GATC, GLA, GLB1, GNPTAB, GUSB, GYG1, GYS1, HRAS, JPH2, KLF10, KLHL24, KRAS, LAMP2, LDB3, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MEF2C, MICOS13, MIPEP, MLYCD, MRAS, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEK8, NEXN, NF1, NRAS, OBSCN, PDLIM3, PHKA1, PHKB, PLN, PMM2, PPA2, PPP1CB, PRKAG2, PTPN11, QRSL1, RAF1, RBM10, RBM20, RIT1, RRAS, RYR2, SCO2, SDHA, SDHD, SGCG, SHOC2, SLC22A5, SLC25A3, SLC25A4, SOS1, SOS2, SURF1, TAFAZZIN, TCAP, TMEM70, TMOD1, TNNC1, TNNI3, TNNT2, TPM1, TRIM54, TRIM63, TRMT5, TSFM, TTR, VCL, FNIP1, NAA10, VARS2, EPG5, FBXL4, FASTKD2, TRMT10C, ALMS1, ANO5, BAG5, CAP2, CASZ1, CAVIN4, CPT2, CTF1, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, FLII, GATA4, GATA5, GATAD1, GBE1, GET3, HADHB, HAND1, HAND2, HCN4, ILK, ISL1, JUP, LAMA4, LEMD2, LMOD2, LRRC10, MIB1, MYBPHL, MYLK3, MYZAP, NDUFB11, NEBL, NKX2-5, NONO, NRAP, PCCA, PCCB, PGM1, PKP2, PLEKHM2, PPCS, PPP1R13L, PRDM16, PSEN1, PSEN2, RAB3GAP2, RPL3L, SCN5A, SGCA, SGCB, SGCD, SPEG, SYNE1, SYNE2, TBX20, TBX5, TMEM43, TNNI3K, TTN, TXNRD2, VEZF1, XK, ZBTB17, CTNNA3, TGFB3 y análisis del genoma mitocondrial