Detección de la deleción de los exones 1-3 del gen HCCS mediante ddPCR

Secuenciación Sanger del gen OTX2

Detección de deleciones/duplicaciones en los genes PAX6 y SOX2 mediante MLPA

Secuenciación Sanger del gen SOX2

Secuenciación masiva y cribado bioinformático de CNVs, panel de 69 genes: ABCB6, ALDH1A3, ASPH, ATOH7, BCOR, BEST1, BMP4, BMP7, CHD7, COL4A1, CRPPA, CSPP1, ERCC2, ERCC5, FOXE3, FOXL2, FREM1, GDF3, GDF6, GJA1, HCCS, HMX1, KIF11, MAB21L2, MFRP, MKS1, NAA10, NDP, NHS, OCRL, OTX2, PAX2, PAX6, PDE6D, PITX3, PLK4, POMGNT1, PORCN, PQBP1, PRR12, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RECQL4, RPGRIP1L, SALL4, SHH, SIX3, SIX6, SLC16A12, SLC38A8, SMCHD1, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, TMEM216, TMEM237, TOGARAM1, TUBGCP4, VSX2, YAP1

Secuenciación Sanger del gen HOXA2

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

FISH Perfil SÍNDROME MIELODISPLÁSICO (SMD)

MIELODISPLÁSICO (SMD), SÍNDROME · SF3B1 (EXONES 12, 13, 14, 15) · HOT SPOT

MIELODISPLÁSICO (SMD, LMMC, LAM), SÍNDROME · ASXL1  (EXON 12, 13) · HOT SPOT

Cariotipo de médula ósea

FISH Cromosoma 8

FISH (7q31)

FISH (20q12)

FISH (5q31-34)

FISH (EVI)t(3,3)

FISH (p53) (17p13.1)

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

Estudio molecular cuantitativo de reordenamiento (BCR,ABL)