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Enfermedades oncológicas y neoplásicas (cáncer)

ADENOMA HIPOFISARIO FAMILIAR/ PROLACTINOMA: 15 genes – Plazos de entrega: 3-4 semanas

AIP, CDH23, CDKN1B, CDKN2A, CDKN2C, GNAS, GPR101, MEN1, POU1F1, PRKAR1A, PRKCA, SDHA, SDHB, SDHC, SDHD

ANEMIA DE BLACKFAN-DIAMOND: 21 genes – Plazos de entrega: 3-4 semanas

EPO, GATA1, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, TSR2

ANEMIA DE FANCONI: 26 genes – Plazos de entrega: 3-4 semanas

ATM, ATR, BLM, BRCA1, BRCA2, BRIP1, CXCR4, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, NBN, PALB2, RAD51, RAD51C, SLX4, UBE2T, XRCC2

CÁNCER COLORRECTAL HEREDITARIO: 41 genes – Plazos de entrega: 3-4 semanas

AKT1, APC, ATM, AXIN2, BLM, BMPR1A, BRCA1, BRCA2, BUB1, CDC73, CDH1, CHEK2, CTNNA1, DIS3L2, EPCAM, FAN1, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PIF1, PIK3CA, PMS1, PMS2, POLD1, POLE, PTEN, RBL1, SCG5, SMAD4, STK11, TELO2, TGFBR2, TP53, TSC1, TSC2

CÁNCER DE ENDOMETRIO HEREDITARIO: 13 genes – Plazos de entrega: 3-4 semanas

BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, PTEN, STK11, TP53

CÁNCER DE HUESO Y TEJIDO BLANDO (SARCOMA Y OSTEOSARCOMA): 33 genes – Plazos de entrega: 3-4 semanas

APC, BLM, CDKN1C, CDKN2A, DICER1, EPCAM, EXT1, EXT2, FH, FN1, HRAS, KIT, MLH1, MSH2, MSH6, NBN, NF1, PDGFRA, PMS2, PRKAR1A, PTCH1, PTCH2, RB1, RECQL4, SDHA, SDHB, SDHC, SDHD, SUFU, TP53, TSC1, TSC2, WRN

CÁNCER DE MAMA Y OVARIO: 51 genes – Plazos de entrega: 3-4 semanas

APC, ATM, ATR, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CYP17A1, EPCAM, ERCC2, ERCC4, FANCC, FANCD2, FANCI, FANCM, HOXB13, MEN1, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, PALB2, PMS1, PMS2, PPM1D, PSMC3IP, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RECQL, SLX4, SMARCA4, STK11, TNFRSF13B, TP53, WRN, XRCC2, XRCC3

CÁNCER DE OVARIO: 31 genes – Plazos de entrega: 3-4 semanas

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK1, CHEK2, DICER1, EPCAM, FANCA, FANCM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS1, PMS2, PTEN, RAD1, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53, TP53I3

CÁNCER DE PÁNCREAS HEREDITARIO: 35 genes – Plazos de entrega: 3-4 semanas

AKT1, APC, ATM, BMPR1A, BRCA1, BRCA2, BUB1B, CASR, CDC73, CDK4, CDKN1B, CDKN2A, CFTR, CHEK2, CTRC, EPCAM, FANCA, FANCC, MEN1, MLH1, MSH2, MSH6, NF1, PALB2, PALLD, PMS1, PMS2, PRSS1, SMAD4, SPINK1, STK11, TP53, TSC1, TSC2, VHL

CÁNCER DE PRÓSTATA FAMILIAR: 33 genes – Plazos de entrega: 3-4 semanas

ABRAXAS1, APC, AR, ATM, ATR, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCA, FANCD2, FANCM, GEN1, HOXB13, MLH1, MRE11, MSH2, MSH6, MSR1, MUTYH, NBN, PALB2, PMS1, PMS2, PTEN, RAD51C, RAD51D, RNASEL, STK11, TP53

CÁNCER DE TIROIDES HEREDITARIO: 17 genes – Plazos de entrega: 3-4 semanas

APC, CDC73, CHEK2, DICER1, FOXE1, HABP2, MEN1, MINPP1, NTRK1, PRKAR1A, PTEN, RET, SDHB, SDHD, SEC23B, TP53, WRN

CÁNCER DE ÚTERO/ ENDOMETRIO: 27 genes – Plazos de entrega: 3-4 semanas

APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CTNNB1, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, POLD1, POLE, PTEN, RAD51C, SMAD4, STK11, TP53, VHL

CÁNCER DEL SISTEMA NERVIOSO CENTRAL Y CEREBRO: 41 genes – Plazos de entrega: 3-4 semanas

AIP, ALK, APC, ATM, BAP1, BARD1, BRCA2, CDKN1B, CDKN2A, DICER1, EPCAM, EZH2, GPC3, HRAS, KIF1B, LZTR1, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTCH2, PTEN, RB1, SETD2, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL, WRN

CÁNCER ENDOCRINO HEREDITARIO: 31 genes – Plazos de entrega: 3-4 semanas

AIP, APC, CASR, CDC73, CDKN1B, CHEK2, DICER1, FH, HABP2, KIF1B, MAX, MEN1, MET, NF1, NTRK1, PHOX2B, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, TMEM127, TP53, TSC1, TSC2, VHL, WRN

CÁNCER GASTROINTESTINAL HEREDITARIO: 52 genes – Plazos de entrega: 3-4 semanas

APC, ATM, AXIN2, BAP1, BLM, BMPR1A, BRCA1, BRCA2, BUB1B, CDH1, CDKN1B, CDKN2A, CHEK2, CTNNA1, EPCAM, FANCC, GALNT12, GREM1, KIT, MAP3K6, MEN1, MLH1, MLH3, MSH2, MSH3, MSH6, MSR1, MUTYH, NF1, NTHL1, PALB2, PC, PDGFRA, PMS1, PMS2, POLD1, POLE, PTEN, RHBDF2, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, TMEM127, TP53, TSC1, TSC2, VHL, WRN

CÁNCER HEREDITARIO GLOBAL: 282 genes – Plazos de entrega: 3-4 semanas

ABRAXAS1, ACVRL1, AIP, AKT1, ALK, ANKRD26, APC, APOA1, APOA2, AR, ARID1A, ATM, ATR, ATRX, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BTK, BUB1, BUB1B, CABIN1, CARD11, CASP10, CASP8, CASR, CBL, CCND1, CD27, CD40LG, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CEBPA, CEP57, CHEK2, COQ6, CREBBP, CSF3R, CST3, CTC1, CTLA4, CTNNA1, CTPS1, CTRC, CYLD, DDB2, DICER1, DIS3L2, DKC1, DLST, DOCK8, EGFR, EGLN1, ELANE, EP300, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ETV6, EXO1, EXT1, EXT2, EZH2, FADD, FAM111B, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FERMT1, FGA, FH, FLCN, FN1, FOXE1, G6PC3, GALNT12, GATA2, GCM2, GDNF, GFI1, GPC3, GPC4, GPR101, GREM1, GSN, HABP2, HAX1, HNF1A, HNF1B, HOXA11, HOXB13, HRAS, IDH1, IKZF1, IL1B, IL1RN, ITK, JAGN1, JAK2, KDM1A, KIF1B, KIT, KITLG, KMT2D, KRAS, LIG4, LYZ, LZTR1, MAGT1, MAP2K1, MAP2K2, MAX, MBD4, MC1R, MDH2, MECOM, MEN1, MET, MINPP1, MITF, MLH1, MLH3, MNX1, MPL, MRE11, MRTFA, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NDUFA13, NF1, NF2, NFIX, NHP2, NOP10, NPAT, NPM1, NRAS, NSD1, NSUN2, NTHL1, NTRK1, NUDT1, OGG1, PALB2, PALLD, PARN, PAX5, PAX6, PC, PDE11A, PDE8B, PDGFRA, PGM3, PHOX2B, PIK3CA, PIK3CD, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPM1D, PRCC, PRF1, PRKAR1A, PRSS1, PSMC3IP, PTCH1, PTCH2, PTEN, PTPN11, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAF1, RASA2, RASGRP1, RB1, RBM8A, RECQL, RECQL4, REST, RET, RHBDF2, RIT1, RNASEL, RNF139, RPL11, RPL35A, RPS24, RRAS, RTEL1, RUNX1, SAMD9, SBDS, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SH2B3, SH2D1A, SHOC2, SLC45A2, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPINK1, SPRED1, SRP72, STAT3, STK11, SUFU, TERT, TET2, TGFBR1, TGFBR2, THPO, TINF2, TMEM127, TNFRSF13B, TNFRSF9, TP53, TRIP13, TSC1, TSC2, TTR, TYR, UBE2T, UNC13D, USB1, VHL, VPS45, WAS, WRAP53, WRN, WT1, XIAP, XPA, XPC, XRCC2, XRCC3

CÁNCER PEDIÁTRICO: 168 genes – Plazos de entrega: 3-4 semanas

ABL1, ABL2, ACVR1, AKT1, ALK, ANKRD26, APC, ARID1A, ARID1B, ASXL1, ATM, ATRX, AXIN2, BAP1, BLM, BMPR1A, BRAF, BUB1B, CALR, CBL, CCND3, CCR5, CDC73, CDK4, CDKN1C, CDKN2A, CDKN2B, CEBPA, CHD7, CIC, CREBBP, CRLF1, CSF1R, CSF3R, CTNNB1, DAXX, DDX3X, DICER1, DIS3L2, DNMT3A, EGFR, EP300, EPCAM, ERBB2, ERBB3, ERBB4, ESR1, ETV6, EXT1, EXT2, EZH2, FAS, FASLG, FBXW7, FGFR2, FGFR3, FH, FLT3, GATA1, GATA2, GATA3, GNA11, GNA13, GNAQ, GPC3, HDAC9, HRAS, ID3, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KDM4C, KDM6A, KDR, KIF1B, KIT, KMT2D, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MEN1, MET, MLH1, MPL, MSH2, MSH6, MTOR, MYOD1, NBN, NF1, NF2, NOTCH1, NPM1, NRAS, NSD1, NSD2, NSUN2, NT5C2, PAX5, PDGFRA, PDGFRB, PHF6, PHOX2B, PIK3CA, PIK3R1, PMS2, POT1, PPM1D, PRF1, PRKAR1A, PRPS1, PTCH1, PTCH2, PTEN, PTPN11, RAF1, RASA2, RB1, RECQL4, REST, RET, RIT1, RRAS, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETD2, SH2B3, SH2D1A, SHOC2, SMAD4, SMARCA4, SMARCB1, SMARCE1, SMO, SOS1, SOS2, SRP72, STAT3, STAT5B, STK11, SUFU, SUZ12, TCF3, TERT, TET2, TMEM127, TP53, TPMT, TRIP13, TSC1, TSC2, USP7, VHL, WRN, WT1, XIAP, ZMYM3

CÁNCER RENAL/URINARIO HEREDITARIO: 40 genes – Plazos de entrega: 3-4 semanas

BAP1, BUB1B, CDC73, CDKN1C, CEP57, CHEK2, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3, HNF1A, HNF1B, HRAS, MET, MITF, MLH1, MSH2, MSH6, MUTYH, PALB2, PBRM1, PMS1, PMS2, PRCC, PTEN, REST, RNF139, SDHA, SDHB, SDHC, SDHD, SMARCA4, SMARCB1, TP53, TSC1, TSC2, VHL, WT1

DISQUERATOSIS CONGÉNITA: 15 genes – Plazos de entrega: 3-4 semanas

AK2, CTC1, DKC1, GRHL2, LIG4, NHP2, NOP10, PARN, POT1, RTEL1, TERT, TINF2, TYMS, USB1, WRAP53

ENFERMEDAD DE COWDEN/ COWDEN-LIKE: 9 genes – Plazos de entrega: 3-4 semanas

AKT1, BMPR1A, KLLN, PIK3CA, PTEN, SDHB, SDHC, SDHD, SEC23B

FEOCROMOCITOMA Y PARAGANGLIOMA: 27 genes – Plazos de entrega: 3-4 semanas

ATRX, CDC73, CDKN1B, DLST, EGLN1, EPAS1, FH, GDNF, HRAS, IDH1, KIF1B, KMT2D, MAX, MDH2, MEN1, MET, NF1, PRKAR1A, RET, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

LEUCEMIA HEREDITARIA Y SÍNDROMES MIELODISPLÁSICOS: 81 genes – Plazos de entrega: 3-4 semanas

ANKRD26, ASXL1, ATM, BCL2, BLM, BRAF, BRCA1, BRCA2, BRIP1, BTK, CBL, CDKN2A, CEBPA, CHD2, CHEK2, CREBBP, DKC1, DNMT3A, EGR2, ELANE, EPCAM, ERCC6L2, ETV6, EZH2, FANCA, FBXW7, FLT3, G6PC3, GATA2, GFI1, HAX1, HRAS, IDH1, IDH2, IKZF1, IKZF3, IRF4, JAK2, KIT, KRAS, MAP2K1, MAP2K2, MECOM, MLH1, MSH2, MSH6, MYD88, NBN, NF1, NOTCH1, NPM1, NRAS, PALB2, PAX5, PDGFRB, PHF6, PMS2, POT1, PTPN11, RAD21, RIT1, RPS15, RTEL1, RUNX1, SAMD9, SAMHD1, SBDS, SF3B1, SMC1A, SMC3, SOS1, SRP72, SRSF2, STAG2, TERT, TET2, TINF2, TP53, U2AF1, WT1, XPO1

MEDULOBLASTOMA: 14 genes – Plazos de entrega: 3-4 semanas

APC, BRCA2, ELP1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTCH1, PTCH2, SMARCB1, SUFU, TP53

MELANOMA HEREDITARIO/ CÁNCER DE PIEL: 34 genes – Plazos de entrega: 3-4 semanas

BAP1, BRCA1, BRCA2, BRIP1, CDK4, CDKN2A, CDKN2B, CHEK2, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, MC1R, MITF, MUTYH, NBN, POLE, POLH, POT1, PTCH1, PTEN, RB1, SLC45A2, SUFU, TERT, TP53, TYR, WRN, XPA, XPC, XRCC2, XRCC3

NEOPLASIA MÚLTIPLE ENDROCRINA: 9 genes – Plazos de entrega: 3-4 semanas

AIP, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, MEN1, RET

NEUROFIBROMATOSIS/ SCHWANNOMATOSIS: 16 genes – Plazos de entrega: 3-4 semanas

CABIN1, CCND1, COQ6, KIT, KITLG, LZTR1, NF1, NF2, PRKAR1A, PTPN11, RAF1, SMARCB1, SPRED1, TSC1, TSC2, VHL

PARAGANGLIOMA Y FEOCROMOCITOMA: 27 genes – Plazos de entrega: 3-4 semanas

ATRX, CDC73, CDKN1B, DLST, EGLN1, EPAS1, FH, GDNF, HRAS, IDH1, KIF1B, KMT2D, MAX, MDH2, MEN1, MET, NF1, PRKAR1A, RET, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

POLIPOSIS ADENOMATOSA FAMILIAR (FAP) & POLIPOSIS JUVENIL: 24 genes – Plazos de entrega: 3-4 semanas

APC, AXIN2, BMPR1A, BRCA1, BRCA2, DIS3L2, ENG, EZH2, GALNT12, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PIK3CA, PMS2, POLD1, POLE, PTEN, SCG5, SMAD4, STK11

PREDISPOSICIÓN A TUMORES SÓLIDOS PEDIÁTRICOS: 106 genes – Plazos de entrega: 3-4 semanas

AIP, ALK, APC, ATM, AXIN2, BAP1, BLM, BMPR1A, BRAF, BRCA2, BRIP1, BUB1B, CBL, CDC73, CDKN1C, CEBPA, CREBBP, CTC1, DDB2, DICER1, DIS3L2, DKC1, EP300, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCE, FANCG, FERMT1, FH, FLCN, GATA2, GPC3, GPC4, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, NRAS, NSD1, NSUN2, PAX5, PAX6, PHOX2B, PIK3CA, PMS2, POLH, POT1, PRF1, PRKAR1A, PTCH1, PTEN, PTPN11, RAF1, RASA2, RB1, RECQL4, REST, RET, RIT1, RRAS, RTEL1, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SHOC2, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, STK11, SUFU, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, USB1, VHL, WRN, WT1, XPA, XPC

SCHWANNOMATOSIS/ NEUROFIBROMATOSIS: 16 genes – Plazos de entrega: 3-4 semanas

CABIN1, CCND1, COQ6, KIT, KITLG, LZTR1, NF1, NF2, PRKAR1A, PTPN11, RAF1, SMARCB1, SPRED1, TSC1, TSC2, VHL

SÍNDROME LINFOPROLIFERATIVO AUTOINMUNE: 38 genes – Plazos de entrega: 3-4 semanas

ADA2, AICDA, CARD11, CASP10, CASP8, CD40LG, CTLA4, DEF6, FADD, FAS, FASLG, IL2RA, ITK, KRAS, LRBA, LYST, MAGT1, MYO5A, NRAS, PIK3CD, PIK3R1, PRF1, PRKCD, RAB27A, RASGRP1, RECQL4, SH2D1A, STAT3, STK4, STX11, STXBP2, TET2, TNFAIP3, TNFRSF9, TPP2, UNC13D, WAS, XIAP

TUMOR DE WILMS: 37 genes – Plazos de entrega: 3-4 semanas

AMER1, ARID1A, ASXL1, BLM, BRCA2, BUB1B, CDC73, CDKN1C, CHD4, COL6A3, CTNNB1, DGCR8, DICER1, DIS3L2, DROSHA, EP300, FBXW7, GPC3, GPC4, HACE1, HDAC4, IGF2, NF1, PALB2, PIK3CA, POU6F2, REST, RLIM, SIX1, SIX2, SMARCA4, TP53, TRIM28, TRIM37, TRIP13, WT1, XPO5

XERODERMA PIGMENTOSO: 10 genes – Plazos de entrega: 3-4 semanas

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, POLH, XPA, XPC

BUSCADOR POR ENFERMEDAD O GEN