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Catálogo: Catálogo genética médica con informe
Referencia: LV4911
GEN_000744
G00088
Especialidad: Endocrinología
Secuenciación masiva y cribado bioinformático de CNVs, panel de 212 genes: ACAN, ACTB, ACTG1, ADAMTS10, AGPS, ALDOA, ALMS1, ALPL, AMMECR1, ANAPC1, ANKRD11, ARCN1, ARID1A, ARID1B, ARSB, ARSL, ATR, ATRIP, ATRX, B3GAT3, BCOR, BLM, BMP2, BRAF, BRF1, BTK, CBL, CCDC8, CDC45, CDK10, CDT1, CEP152, CEP57, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COLEC10, COMP, CREBBP, CRIPT, CRTAP, CTSK, CUL7, DHCR7, DONSON, DVL1, DYNC2H1, EBP, ERCC3, ERCC4, ERCC6, ERCC8, EVC, EVC2, EXT1, EXT2, FAM111A, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FBN1, FGD1, FGF23, FGFR3, FLNB, FN1, GALNS, GH1, GHR, GHRHR, GHSR, GLB1, GLI2, GLI3, GMNN, GNAS, GNPAT, GUSB, HDAC8, HESX1, HMGA2, HRAS, HSPG2, IDS, IDUA, IGF1, IGF1R, IGF2, IGFALS, IHH, INSR, INTS1, KDM6A, KMT2A, KMT2D, KRAS, LARP7, LFNG, LHX3, LHX4, LIFR, LIG4, LMNA, LTBP3, LZTR1, MAP2K1, MAP2K2, MASP1, MRAS, MSTO1, NBAS, NBN, NEPRO, NF1, NIPBL, NOTCH2, NPR2, NRAS, NSMCE2, NSUN2, OBSL1, ORC1, ORC4, ORC6, OSGEP, OTX2, P3H1, PAPPA2, PCNT, PDE4D, PHEX, PIEZO2, PIK3R1, PLK4, POC1A, POP1, POU1F1, PPP1CB, PPP3CA, PRKAR1A, PRMT7, PROP1, PTH1R, PTPN11, PUF60, RAD21, RAF1, RALA, RASA2, RBBP8, RIT1, RMRP, RNPC3, ROR2, RPS6KA3, RRAS, RRAS2, RTTN, RUNX2, SATB2, SFI1, SGMS2, SHOC2, SHOX, SIN3A, SLC25A24, SLC26A2, SLX4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SOS1, SOS2, SOX11, SOX2, SOX3, SOX9, SPRED2, SRCAP, STAG2, STAT5B, TBCE, TBX2, TBX3, THRB, TOP3A, TRAIP, TRAPPC2, TRIM37, TRMT10A, TRPS1, UBE2T, UBE3B, WNT5A, WRN, XRCC4
