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Header NGS

Paneles de secuenciación. NGS

Gracias a la gran evolución experimentada por los equipos de secuenciación de nueva generación (NGS) ha sido posible desarrollar tests que incluyen desde un solo gen hasta paneles con amplios grupos de genes e incluso el exoma, aumentando la capacidad diagnóstica, con plazos más cortos y precios más ajustados.

Los Paneles de NGS son tests genéticos que engloban genes implicados en una misma patología. Se utilizan cuando el fenotipo del paciente es claro y su causa puede tener origen en múltiples genes. Pueden incluir desde dos genes a cientos. Los paneles disponibles en ICM son desarrollados por nuestro equipo de expertos basándose en las recomendaciones de las sociedades científicas y los últimos artículos publicados. Son paneles dinámicos, por lo que pueden variar los genes incluidos, dependiendo de dichas publicaciones científicas. ICM ofrece la posibilidad de diseñar paneles por petición de especialistas. Si necesita algún panel en concreto, háganoslo saber.

  • Acidemia glutárica. Panel NGS 4 genes: GCDH, ETFA, ETFB, ETFDH
  • Acidemia y aciduria metilmalónica. Panel NGS 11 Genes: MUT, MMAA, MMAB, MCEE, MMADHC, SUCLA2, ACSF3, MMACHC, LMBRD1, ABCD4, SUCLG1
  • Aciduria 3-Metilglutacónica. Panel NGS 5 genes: AUH, OPA3, DNAJC19, TAZ, ATPAF2
  • Acromatopsia. Panel NGS 5 genes: CNGA3, CNGB3, GNAT2, PDE6H, PDE6C
  • Albinismo oculocutáneo. Panel NGS 17 genes: GPR143, TYR, OCA2, SLC45A2, TYRP1, MC1R, SLC24A5, LYST, HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, BLOC1S6
  • Amaurosis congénita de Leber. Panel NGS 19 genes: AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, LCA5, LRAT, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1, KCNJ13, NMNAT1
  • Panel ampliado de epilepsias. Panel NGS 194 genes: HSD17B10, DPYD, ADSL, ABCD1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, GFAP, AMACR, UBE3A, MECP2, ASPA, AGA, SCN1B, BTD, PHF6, CPT2, ATRX, NOTCH3, FOLR1, CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1, TPP1, CACNA1H, SCN8A, EARS2, MARS2, ALG13, SLC35A2, TCF4, SLC6A8, TBC1D24, GCH1, ADAR, KCNB1, SERPINI1, DOCK7, GABRB3, DEPDC5, LGI1, GRIN2A, EFHC1, CHRNA2, CHRNA4, CHRNB2, KCNT1, GOSR2, PRICKLE2, CERS1, CSTB, EPM2A, KCNC1, KCTD7, NHLRC1, PRICKLE1, SCARB2, ALDH7A1, SYN1, CHD2, ARHGEF9, DNM1, GNAO1, HCN1, KCNA2, NECAP1, PCDH19, PLCB1, SIK1, SLC12A5, SLC13A5, SLC25A22, SPTAN1, STXBP1, SZT2, PNKP, KCNQ2, GABRA1, EEF1A2, GRIN2B, ST3GAL3, CDKL5, SCN2A, WWOX, CACNB4, KCNA1, PRRT2, SLC46A1, FLNA, GRN, ST3GAL5, STX1B, GABRG2, GCDH, ETFA, ETFB, ETFDH, AMT, GLDC, GAMT, FH, MTHFR, ARG1, GPHN, SLC25A15, PTS, QDPR, PRODH, CASR, GNE, HNRNPU, GALC, PSAP, DNAJC5, L2HGDH, COX15, FOXRED1, AIMP1, FAM126A, POLR3A, POLR3B, TUBB4A, CLCN2, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, RNASET2, CSF1R, RELN, ARX, DCX, TSC1, TSC2, MLC1, HEPACAM, GRIA3, IQSEC2, MBD5, MEF2C, PURA, SYNGAP1, CASK, SMS, CUL4B, SLC9A6, KDM5C, UBE2A, OPHN1, ARSA, SCN1A, CACNA1A, NDUFAF5, MOCS1, ZEB2, PIGA, SUMF1, SNAP25, SLC6A1, WDR45, CTSF, MED12, ATP13A2, SCN9A, SOX10, PGK1, CNTNAP2, NRXN1, PNPO, FOXG1, COL4A1, KCNQ3, NEU1, OFD1, MTOR, AFG3L2, HSPD1, GJC2, KIF1A, PLP1, ASAH1, SLC2A1, ALDH5A1, SUOX, SLC19A3, TREX1, RAB39B
  • Patologías cardiacas; Arritmias; Miocardiopatías, Defectos en la conducción. Panel NGS 61 genes: ABCC9, ACTC1, ACTN2, AKAP9, AMPD, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, CSRP3, CTF1, DES, DMD, DMPK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, GLA, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, LAMP2, LDB3, LMNA, LMX1B, MYBPC3, MYH6, MYH7, MYL2, MYL3, PKP2, PLN, PMP22, PRKAG2, RyR2, SCN1B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TAZ, TCAP, TM, M43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
  • Anemia de Diamond-Blackfan. Panel NGS 9 genes: RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17, RPS7
  • Anemia de Fanconi. Panel NGS 15 genes: FANCA, FANCB, FANCC, BRCA2, FANCD2, FANCE, FANCF, FANCG,  FANCI, BRIP1, FANCL, FANCM, PALB2, RAD51C, SLX4
  • Anemia diseritorpoyética congénita. Panel NGS 3 Genes: CDAN1, SEC23B, KLF1
  • Angiopatía amiloide cerebral. Panel NGS 3 genes: CST3, APP, ITM2B
  • Panel gen único NGS Aniridia. Panel NGS Gen PAX6
  • Atrofia muscular espinal. Panel NGS 7 genes: PLEKHG5, ATP7A, IGHMBP2, UBA1, DYNC1H1, TRPV4, SMN1
  • Atrofia óptica. Panel NGS 3 genes: OPA1, OPA3, TMEM126A
  • de cáncer colorectal hereditario (Incluye mutaciones frecuentes de POLE y POLD1). Panel NGS 14 Genes: APC, AXIN2, EPCAM, MLH1, MLH3, MSH2, MSH6, MUTYH, PMS1, PMS2, STK11, PTEN, SMAD4, BMPR1A
  • Cáncer de endometrio. Panel NGS 5 genes: MLH1, MSH2, MSH6, PMS2, EPCAM
  • Cáncer de mama/ ovario. Panel NGS 21 genes: BRCA1, BRCA2, CHEK2, PALB2, BRIP1, TP53, PTEN, STK11, CDH1, ATM, BARD1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, RAD50, RAD51C
  • Cáncer de páncreas. Panel NGS 2 Genes: BRCA2, PALB2
  • Cáncer de paratiroides. Panel NGS 2 genes: CDC73, MEN1
  • Cáncer de próstata. Panel NGS 3 genes: BRCA1, BRCA2, CHEK2
  • Cáncer de tiroides. Panel NGS 2 genes: RET, NTRK1
  • Cáncer gástrico. Panel NGS 6 Genes: CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM
  • Carcinoma renal. Panel NGS 4 Genes: VHL, MET, FH, FLCN
  • Ceguera nocturna congénita y hereditaria. Panel NGS 11 genes: RHO, PDE6B, GNAT1, CACNA1F, NYX, GRM6, SLC24A1, TRPM1, CABP4, SAG, GRK1
  • Colestasis intrahepática familiar progresiva. Panel NGS 3 genes: ATP8B1, ABCB11, ABCB4
  • Condrosarcoma. Panel NGS 2 genes: EXT1, EXT2
  • Cáncer de mama/ ovario. Panel NGS 2 genes: BRCA1, BRCA2
  • Cutis Laxa. Panel NGS 8 Genes: ATP6V0A2, FBLN5, EFEMP2, ELN, ATP7A, LTBP4, PYCR1, ALDH18A1
  • Cáncer hereditario masculino (15 tipos de cáncer hereditario). Panel NGS 41 genes: APC, AXIN2, BMPR1A, BRCA1, BRCA2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, EPCAM, EXT1, EXT2, FH, FLCN, MAX, MEN1, MET, MLH1, MLH3, MSH2, MSH6, MUTYH, NF1, NF2, NTRK1, PALB2, PMS1, PMS2, PTEN, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, VHL
  • Panel de déficit intelectual. Panel NGS 514 genes:  AASS, ABAT, ABCD1, ABHD5, ACOX1, ACSL4, ADAR, ADAT3, ADCK3, ADSL, AGA, AHI1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARG1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARSA, ARSB, ARX, ASAH1, ASL, ASPA, ASPM, ASS1, ASXL1, ATL1, ATP6AP2, ATP7A, ATP8A2, ATRX, AUH, B3GALNT2, B3GALTL, B3GNT1, B4GALT1, B4GALT7, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, BRCA2, BRIP1, BRWD3, BSCL2, BTD, C5ORF42, CA2, CA8, CACNA1C, CACNG2, CANT1, CASC5, CBS, CC2D1A, CC2D2A, CCBE1, CD96, CDH15, CDK5RAP2, CDKL5, CENPJ, CEP135, CEP152, CEP290, CEP41, CHD7, CHKB, CHMP1A, CLIC2, CLN3, CLN5, CLN6, CLN8, CNKSR2, COG1, COG4, COG5, COG6, COG7, COG8, COL2A1, COL4A1, COMP, COQ2, COQ4, COQ6, COQ9, CPS1, CRADD, CRBN, CTCF, CTNNB1, CTSA, CTSD, CUL4B, CYB5R3, CYP27A1, DARS2, DCX, DDC, DDOST, DDX59, DHCR7, DKC1, DLG3, DNAJC19, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EIF2S3, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, FAM126A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FOXG1, FOXL2, FTCD, FTSJ1, FUCA1, GABRG2, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GFAP, GJB1, GJB6, GJC2, GK, GLB1, GLDC, GLI3, GLYCTK, GM2A, GMPPB, GNAS, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPI, GPR56, GRIA3, GRIK2, GRIN1, GRIN2B, GSS, GTDC2, GUSB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HPRT1, HRAS, HSD17B10, HSPD1, HSPG2, HUWE1, HYAL1, IDS, IDUA, IGBP1, IL1RAPL1, INPP5E, INSR, IQSEC2, ISPD, ITPR1, JAG1, KCNC3, KCNJ10, KDM5C, KDM6A, KIAA2022, KIF1A, KIF7, KIRREL3, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LARGE, LRP5, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MBD5, MCOLN1, MCPH1, MECP2, MED12, MED23, MFSD8, MGAT2, MID1, MKKS, MKS1, MLC1, MLL2, MLYCD, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MVK, MYCN, MYO5A, NAA10, NAGLU, NBN, NDE1, NDP, NFIX, NGLY1, NHS, NIPBL, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NSD1, NSDHL, NSUN2, NTRK1, OCRL, OFD1, OPA3, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PAX3, PAX6, PCBD1, PCCA, PCDH19, PDHA1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PGM1, PHC1, PHF6, PHF8, PIGL, PLA2G6, PLP1, PMM2, PNKP, PNP, PNPO, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PORCN, PPT1, PQBP1, PRKAR1A, PRPS1, PRSS12, PTCH1, PTEN, PTPN11, PTS, PVRL1, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RARS2, RBM10, RECQL4, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPS6KA3, SACS, SAMHD1, SAR1B, SBDS, SC5DL, SCN1A, SCN2A, SCN9A, SEMA3E, SEPSECS, SETBP1, SGSH, SH3PXD2B, SHROOM4, SIL1, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A22, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMAD4, SMARCA4, SMARCB1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX3, SPAST, SPG11, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STIL, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAT, TBCE, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TECR, TGFBR1, TGFBR2, TIMM8A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TPI1, TPP1, TRAPPC9, TREM2, TREX1, TRIM32, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTC8, TUBA1A, TUBB4A, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBR1, UMPS, UPF3B, UROC1, VLDLR, VPS13B, VRK1, WDPCP, WDR62, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZNF335, ZNF423, ZNF711, ZNF81
  • Panel de degeneración macular. Panel NGS 15 genes: HMCN1,ABCA4, FBLN5, RAX2,CNGB3,RPGR,BEST1,GUCA1B,C1QTNF5,IMPG2, ELOVL4, PRPH2, RP1L1, CDH3, PROM1
  • Panel de miopatías hereditarias. Panel NGS 68 genes: CRYAB,  LDB3,  BAG3,  TPM3,  NEB,  ACTA1,  TPM2,  TNNT1,  KBTBD13,  CFL2,  TTN,  ISCU,  MTM1,  GNE,  VCP,  CLCN1,  SCN4A,  RYR1,  SEPN1,  DYSF,  MYH7,  COL6A1,  COL6A2,  COL6A3,  ATP2A1,  MATR3,  FLNC,  CACNA1S,  LAMA2,  SYNE1,  DMD,  POMT1,  POMT2,  FKTN,  FKRP,  LARGE,  POMGNT1,  SGCG,  SGCA,  SGCB,  SGCD,  CAPN3,  TCAP,  TRIM32,  ANO5,  PLEC,  DES,  MYOT,  LMNA,  CAV3,  DNAJB6,  EMD,  FHL1,  SYNE1,  SYNE2,  TMEM43,  DPAGT1,  AGRN,  CHAT,  CHRNA1,  CHRNB1,  CHRND,  CHRNE,  COLQ,  DOK7,  GFPT1,  MUSK,  RAPSN
  • Panel de nefropatías y enfermedad renal. Panel NGS 355 genes:  ABCC6, ACAT1, ACE, ACTN4, AGL, AGXT, AHI1, AKT1, AKT3, ALDOA, ALDOB, ALMS1, ALPL, APC, APOA1, APOL1, APRT, AQP2, ARL6, ASL, ATP6V0A4, ATP6V1B1, ATP7B, ATRX, AVPR2, AXIN2, B3GALTL, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP4, BMPER, BSND, BUB1B, C3, CA2, CASR, CC2D2A, CCBE1, CCDC28B, CCND1, CD2AP, CD46, CD96, CDC73, CDKN1B, CDKN1C, CEP290, CFH, CFHR1, CFHR3, CFHR5, CHD7, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, COA5, COL4A1, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ9, COX14, COX6B1, CPT1A, CPT2, CTNS, DGKE, DHCR7, DHODH, DIRC2, DIS3L2, DKC1, DMP1, DYNC2H1, EGF, EIF2AK3, ENO3, ENPP1, EPO, ERBB3, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, EYA1, FAH, FAM20A, FAM20C, FAM58A, FAN1, FANCA, FANCC, FANCD2, FANCE, FGA, FGF10, FGF23, FGFR2, FGFR3, FH, FLCN, FLNB, FN1, FOXC2, FRAS1, FREM1, FREM2, FXYD2, G6PC, G6PC3, GAA, GALNT3, GALT, GATA3, GBE1, GDNF, GLA, GLI3, GLIS2, GNAS, GNAS-AS1, GPC3, GRHPR, GSN, GYG1, GYS1, GYS2, H19, HMGA2, HNF1A, HNF1B, HOGA1, HOXA13, HPRT1, HPS1, HRAS, HSD11B2, HSD17B4, IFNG, IFT122, IFT140, IFT43, IKBKAP, INF2, INPP5E, INSL3, INVS, IQCB1, IRF4, JAG1, JAM3, KAL1, KANSL1, KAT6B, KCNJ1, KCNJ10, KCNQ1OT1, KIF1B, KL, KRAS, LAMB2, LDHA, LMBRD1, LMX1B, LPIN1, LRP4, LYZ, MAFB, MAX, MBTPS2, MEFV, MET, MKKS, MKS1, MLH3, MLL2, MMAA, MMAB, MMACHC, MMADHC, MNX1, MTHFR, MTR, MTRR, MUT, MVK, MYH9, MYO1E, NEK1, NEK8, NF1, NIPBL, NLRP3, NME1, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C2, NRAS, NSD1, NSDHL, OCRL, ODC1, OFD1, OGG1, PAX2, PC, PDGFRL, PDSS2, PEX1, PEX5, PFKM, PGAM2, PGK1, PGM1, PHEX, PHKA1, PHKA2, PHKB, PHKG2, PIGL, PIGN, PIK3CA, PKD2, PKHD1, PLA2G2A, PLCE1, PLG, PMM2, POR, PORCN, PQBP1, PRCC, PROC, PROKR2, PRPS1, PTEN, PTPN11, PTPRJ, PTPRO, PYGL, PYGM, RAB40AL, RAD51C, RAI1, REN, RET, RNF139, RNU4ATAC, ROBO2, ROR2, RRM2B, RXFP2, SALL1, SALL4, SARS2, SCARB2, SCNN1A, SCNN1B, SCNN1G, SDHB, SDHD, SEMA3E, SERPINH1, SF3B4, SI, SIX1, SIX5, SLC12A1, SLC12A3, SLC22A12, SLC22A5, SLC26A3, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC37A4, SLC3A1, SLC4A1, SLC4A4, SLC5A1, SLC5A2, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3R1, SMARCAL1, SMARCB1, SMPD1, SOX17, SRCAP, STRA6, STX16, SUCLA2, TCTN3, TFAP2A, TFE3, TLR2, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TP53, TP63, TREX1, TRIM32, TRPC6, TSC1, TSC2, TTC8, UMOD, UPK3A, VDR, VEGFA, VHL, VIPAS39, VPS33B, WDPCP, WDR19, WNK1, WNK4, WNT3, WNT4, WNT5A, WT1, XDH, XPNPEP3, XYLT1, XYLT2, ZMPSTE24, ZNF423
  • Panel de neuropatías periféricas hereditarias. Panel NGS 47 genes: PMP22, MPZ, LITAF, EGR2, NEFL, BSCL2, KIF1B, MFN2, RAB7A, LMNA, MED25, TRPV4, GARS, HSPB1, GDAP1, HSPB8, AARS, DYNC1H1, LRSAM1, DHTKD1, MTMR2, SBF2, SBF1, SH3TC2, NDRG1, PRX, FGD4, FIG4, DNM2, YARS, INF2, GNB4, KARS, GJB1, AIFM1, PRPS1, PDK3, SPTLC1, ATL1, DNMT1, WNK1, KIF1A, NTRK1, NGF, DST, POLG, GAN
  • Patología esquelética hereditaria. Panel NGS 363 genes: ABCC9, ACAN, ACE, ACP5, ACVR1, ADAMTS2, ADAMTSL2, AGA, AGPS, AGT, AGTR1, AKT1, ALDH18A1, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANO5, ANTXR2, AP2S1, ARHGAP31, ARSB, ARSE, ASPM, ATP6V0A2, ATP6V0A4, ATP6V1B1, B3GALNT2, B3GAT3, B3GNT1, B4GALT7, BMP1, BMP2, BMPER, BMPR1B, BSND, CA2, CANT1, CASR, CC2D2A, CCDC8, CDC73, CDH3, CDKN1B, CDKN1C, CEP290, CHRNA1, CHRND, CHRNG, CHST14, CHST3, CHSY1, CIAS1, ClCN5, CLCN7, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, COG1, COL10A1, COL11A1, COL11A2, COL18A1, COL1A1, COL1A1, COL1A2, COL1A1,COL1A2, COL1A2, COL1A3, COL2A1, COL3A1, COL3A1 , COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRTAP, CTSA, CTSC, CTSK, CUL7, DAG1, DDR2, deleción, duplicación, o reordenamiento del cromosoma 7q21.3, DHCR24, DHODH, DLL3, DLX3, DLX5, DMP1, Duplicación en el cluster HOXD, duplicaciones del cromosoma 2q35, DYM, DYNC2H1, EBP, EFNB1, EFTUD2, EGF, EIF2AK3, ENPP1, EP300, ERCC1, ERCC2, ERCC6, ESCO2, EVC, EVC2, EXT1, EXT2, EZH2, FAH, FAM111A, FAM123B, FAM20C, FAM58A, FANCA, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF12, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKRP, FKTN, FLNA, FLNB, FUCA1, FXYD2, G6PC, GALNS, GALNT3, GATA3, GBA, GCM2, GDF3, GDF5, GDF6, GDF7, GHR, GJA1, GJA1 , GLB1, GLI3, GNAS, GNAS-AS1, GNPAT , GNPTAB, GNPTG, GNS, GORAB, GPC6, GTDC2, GUSB, HDAC4, HES7, HGSNAT, HOXA11, HOXA13, HOXD13, HPGD, HSPG2, HYAL1, ICK, IDS, IDUA, IFITM5, IFT122, IFT140, IFT43, IFT80, IGF1, IHH, IKBKG, IL1RN, INPPL1, ISPD, JAG1, KAT6B, KCNJ1, KCNJ10, KIF22, KIF7, LARGE, LBR, LEMD3, LEPRE1, LFNG, LIFR, LMBR1, LMNA, LMX1B, LPIN2, LRP4, LRP5, LTBP3, MAFB, MAN2B1 , MANBA, MATN3, MCM6, MCOLN1, MCPH1, MEN1, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MNX1, MSTN, MSX2, MYCN, MYH3, NAGLU, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH2, NPR2, NSD1, NSDHL, OBSL1, OFD1, ORC1, OSTM1, PAPSS2, PCNT, PDE4D, PEX7, PHEX, PIGV, PITX1, PLEKHM1, PLOD1, PLOD2, POC1A, POLR1C, POLR1D, POMGNT1, POMT1, POMT2, POR, PPIB, PRKAR1A, PTH, PTH1R, PTHLH, PTPN11, PYCR1, RAB23, RBM8A, RECQL4, REN, RET, RIN2, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SBDS, SEC23A, SEPN1, SERPINF1, SERPINH1, SF3B4, SGK196, SGSH, SH3BP2 , SH3PXD2B, SHH, SHOX, SKI, SLC12A1, SLC12A3, SLC17A5, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLC4A1, SLC9A3R1, SLCO2A1, SMAD4, SMARCAL1, SNX10, SOST, SOX9, SP7, SQSTM1, STX16, SULF1 and SLCO5A1, SUMF1, TBCE, TBX1, TBX15, TBX3, TBX4, TBX5, TBXAS1, TCIRG1, TCOF1, TCTN3, TFAP2A, TGFB1, TGFBR1, TGFBR2, THPO, TMCO1, TMEM216, TMEM38B, TMEM5, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNNI2, TNNT3, TNXB, TP63, TPM2, TRAPPC2, TREM2, TRIP11, TRPM6, TRPS1, TRPS1 , TRPV4, TTC21B, TWIST1, TYROBP, VCP, VDR, VPS13B, WDR19, WDR35, WISP3, WNT1, WNT10B, WNT3, WNT7A, WRN, ZMPSTE24
  • Panel de retrasos en el desarrollo. Panel NGS 463 genes: AAAS, ABCB11, ACADS, ACAN, ACP5, ACTB, ADA, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, AGA, AGL, AGPS, AKT3, ALDH18A1, ALDH3A2, ALDOA, ALMS1, ALPL, ANKRD11, AP4B1, AP4E1, AP4S1, AQP2, ARSB, ARSE, ARX, ASPM, ASXL1, ATM, ATP6V0A2, atp7a, ATP8B1, ATPAF2, ATR, ATRX, B3GALTL, B3GAT3, B4GALT7, BANF1, BCOR, BIPPs, BLM, BMP1, BMPR1B, BRAF, BTK, BUB1B, C16orf57, CA2, CANT1, CASK, CASP8, CASR, CCBE1, CCDC8, CD96, CDC6, CDT1, CENPJ, CEP152, CEP57, CEP63, CHD7, CHMP1A, CHRNA1, CHRND, CHRNG, CHST3, CLCN5, COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL9A1, COL9A2, COL9A3, COMP, COX4I2, CREBBP, CRLF1, CRTAP, CTC1, CTDP1, CTNS, CTSA, CTSK, CUL4B, CUL7, CYP11B1, CYP27B1, CYP2R1, DDR2, DDX11, DHCR7, DKC1, DLL3, DLX5, DUOX2, DUOXA2, DYM, DYNC2H1, EBP, EFNB1, EFTUD2, EIF2AK3, ENPP1, EP300, ERCC2, ERCC3, ERCC6, ERCC8, ESCO2, EVC, EVC2, EXOSC3, EXT1, EXT2, FAM123B, FAM20C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FBN1, FGD1, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNB, FNLA, FOXE1, FOXG1, Foxi1, FTO, fucA1, G6PC, G6PC3, GALNS, GATA1, GBA, GCM2, GDF5, GDF6, GH1, GHR, GHRHR, GHSR, GJB6, GK, GLA, GLB1, GNAS, GNPAT, GNPTAB, GNPTG, Gorab, GPC6, GPD1, GRM1, GTF2H5, GUSB, H19, HBA1, HBB, HCCS, HCFC1, HDAC4, HDAC8, Hes7, HESX1, HEX, HGD, HOXD13, HPRT1, HRAS, HSD11B2, HSD17B4, HSPG2, HYAL1, HYLS1, IDS, IDUA, IFITM5, IFT140, IFT43, IGBP1, IGF1R, IGF2, IHH, IKBKAP, IKBKG, IMPAD1, INSR, ITCH, KANSL1, KAT6B, KCNJ1, KCNJ10, KCNJ2, KDM5C, KIF1A, KIF22, KIF7, KLF1, KRAS, L1CAM, LAMTOR2, LARGE, LBR, LEPRE1, LHX3, LHX4, LIFR, LMNA, LMX1B, LRBA, LRP2, LRP5, LTBP2, LTBP3, LTBP4, MAN2B1, MAP2K1, map2k2, MATN3, MBTPS2, MCPH1, MECP2, med12, MGAT2, MIR17HG, MKS1, MLL, MLYCD, MMP13, MMP2, MMP9, MPO, Mpv17, MVK, MYCN, MYH3, MYH8, NAA10, NBAS, NBN, NDE1, NDN, NEK1, NF1, NIN, NIPBL, NKX2-1, NKX2-5, NOG, NOTCH2, NPR2, NSD1, NSDHL, NSUN2, OCRL, OFD1, ORC1, Orc4, ORC6, OTX2, PAPSS2, PAX8, PCCB, PCNT, PDE4D, PEX7, PFKM, PGAM2, PGMs, PHF6, PHGDH, PHKA1, PHKA2, PHKB, PIGO, PIK3R2, PITX2, PLEC1, PLOD2, PLOD3, POC1A, POR, PORCN, POU1F1, PQBP1, PRKAR1A, PROP1, PTH1R, PTHLH, PTPN11, PYCR1, RAB18, RAB23, RAB3GAP1, RAB3GAP2, RAB40AL, RAD21, RAD51C, RAF1, RAI1, RAPSN, rbbp8, RBM8A, RECQL4, RIN2, RIPK4, RMRP, RNU4ATAC, ROR2, ROR3, RPS19, RPS6KA3, RTTN, RUNX2, SBDS, SDHA, SEC23A, SECISBP2, Sema3E, SEPN1, SERPINF1, SERPINH1, SF3B4, SH3BP2, SHH, SHROOM4, SIL1, SLC12A2, SLC16A2, SLC17A5, SLC19A2, SLC26A2, SLC26A4, SLC29A3, SLC34A1, SLC34A3, SLC35C1, SLC35D1, SLC37A4, SLC39A13, SLC39A4, SLC5A5, SLC6A19, SLC6A8, SLC9A6, SLX4, SMAD4, SMARCA2, SMARCAL1, SMC1A, SMC3, SMOC1, SMPD1, SMS, SNRPN, SOS1, SOST, SOX2, SOX3, SOX9, SP7, SPG20, SRCAP, Stra6, SUMF1, TAZ, TBCE, TBX1, TBX15, TBX3, TCTN3, TERT, TFAP2A, TG, THRA, THRB, TINF2, TMCO1, TMEM165, TMEM237, TNFRSF11B, TNNI2, TNNT3, TP63, TPM2, TPO, TRAPPC2, TRH, TRHR, TRIM37, Trip11, TRPS1, TRPV4, TSHB, TSHR, TWIST1, UBR1, UROC1, UROS, VDR, VLDLR, VPS13B, WDR19, WDR19, WDR35, WEIRD, WFS1, WISP3, WNT5A, WNT7A, WRN, ZEB2, Zinc finger and BTB domain-containing protein16, ZMPSTE24, ZNF592
  • Panel de trastornos del desarrollo sexual. Panel NGS 219 genes: AGPAT2, AIRE, AKR1C2, AKR1C4, ALMS1, ALX4, AMH, AMHR2, AR, ARID1B, ARL6, ARX, ATR, ATRX, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BLM, BMP15, BMP4, BMPR1B, BRAF, BRCC3, BRWD3, BSCL2, BUB1B, CBX2, CD96, CDKN1C, CEP290, CFTR, CHD7, CHRM3, CREBBP, CUL4B, CUL7, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DCAF17, DDX3Y, DGKK, DHCR7, DHH, DIAPH2, DMRT1, DMRT2, DMRT3, DOCK8, EBP, EIF1AY, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC8, EVC, EVC2, FGD1, FGF8, FGFR1, FGFR2, FIGLA, FLNA, FMR1, FOXL2, FRAS1, FREM2, FSHB, FSHR, GATA1, GATA4, GHR, GK, GLI3, GNAS, GNRH1, GNRHR, GPC6, H6PD, HARS2, HCCS, HDAC8, HFE, HOXA13, HOXD13, HPRT1, HS6ST1, HSD11B1, HSD17B3, HSD17B4, HSD3B2, ICK, IGSF1, INPP5E, INSL3, INSR, IRF6, IRX5, KAL1, KDM5C, KDM5D, KIF7, KISS1, KISS1R, KLHL4, KRAS, LEP, LEPR, LHB, LHCGR, LMNA, MAMLD1, MAP2K1, MAP3K1, MBTPS2, MECP2, MED12, MID1, MKKS, MKS1, MLL2, MTCP1, MTM1, NAA10, NBN, NOBOX, NOTCH2, NR0B1, NR3C1, NR5A1, NRAS, NSDHL, NSMF, OCRL, OFD1, OPHN1, ORC1, PAPSS2, PAX2, PCDH11Y, PCSK1, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PHF6, PITX2, PMM2, POF1B, POLG, POLR3A, POR, PRKAR1A, PROK2, PROKR2, PSMC3IP, PTPN11, RAB23, RAB3GAP2, RAB40AL, RAF1, RECQL4, RET, RIPK4, ROR2, RSPO1, RXFP2, SEMA3A, SEMA3E, SF3B4, SLC29A3, SLC39A4, SMARCA2 , SMS, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, STK11, STRA6, TAC3, TACR3, TBCE, TBX3, TMEM67, TP63, TRIM32, TSHR, TSPYL1, TTC8, UBR1, UPK3A, USP26, USP9Y, WDPCP, WDR11, WNT3, WNT4, WNT5A, WNT7A, WT1, ZBTB16
  • Panel de trastornos del espectro autista. Panel NGS 13 genes: CACNA1C, DHCR7, EN2, GAMT, MECP2, NLGN3, NLGN4X, NSD1, PDE8B, PTEN, RPL10, TSC1, TSC2
  • Defectos congénitos de la glicosilación. Panel NGS 33 Genes: ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1,  DPM1, DPM3, MAGT1, MGAT2, MOGS, MPDU1, MPI, PGM1, PMM2, RFT1, SLC35A1, SLC35C1, SRD5A3, TMEM165, TUSC3 
  • Defectos en la biogénesis de peroxisomas; Espectro del Síndrome de Zellweger. Panel NGS 14 Genes: PHYH, PEX7, PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13,  PEX14, PEX16, PEX19, PEX26
  • Déficit combinado de hormona pituitaria. Panel NGS 8 genes: POU1F1, PROP1, LHX3, LHX4, HESX1, OTX2, GLI2, SOX2
  • Déficit de carnitin-palmitoiltransferasa. Panel NGS 2 genes: CPT1A, CPT2
  • Déficit primario de coenzima Q10. Panel NGS 7 genes: COQ2, PDSS1, PDSS2, ADCK3, COQ9, COQ6, APTX
  • Déficits combinados de la fosforilación oxidativa. Panel NGS 9 genes: MRPS22, GFM1, FARS2, AARS2, MRPS16, TSFM, C12orf65, MTFMT, TUFM
  • Degeneración macular asociada a la edad. Panel NGS 57 genes: ABCA1, ABCA4, ACE, ADIPOR1, APOE, ARMS2, BEST1, C1QTNF5, C3, C4orf14, C9, CACNA1F, CACNA2D4, CCR2, CETP, CFD, CFH, CFHR1, CFHR3, CFI, COL1A2, CRP, CST3, CX3CR1, EFEMP1, ELOVL4, ERCC6, ESR1, FBLN5, GUCA1A, HMCN1, HTRA1, IGFBP7, KCNV2, LIPC, LPL, LRP6, PDE6C, PLEKHA1, POLR2B, PON1, PROM1, PRPH2, RAX2, REST, RLBP1, ROBO1, RORA, RP1L1, RS1, SERPING1, TIMP3, TLR3, TLR4, TNFRSF10A, VEGFA, VLDLR
  • Diabetes Mellitus neonatal permanente (PNDM). Panel NGS 15 genes: KCNJ11 , ABCC8 , HNF1B, GCK, INS, PTF1A,  PDX1, GLIS3, RFX6, SLC19A2, GATA6, IER3IP1, PAX6, NEUROD1, NEUROG3
  • Diabetes Mellitus neonatal transitoria (TNDM). Panel NGS 7 genes: ZFP57, PLAGL1, HYMAI, ABCC8, KCNJ11, HNF1B, INS
  • Diabetes MODY. Panel NGS 13 genes: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11
  • Disfunción del metabolismo del surfactante pulmonar. Panel NGS 5 genes: SFTPB, ABCA3, CSF2RA, CSF2RB, SFTPC
  • Disostosis espondilocostal autosómica recesiva. Panel NGS 4 genes: DLL3, MESP2, LFNG, HES7
  • Displasia ectodérmica. Panel NGS 6 genes: EDA, EDAR, EDARADD, GJB6, IKBKG, NFKBIA
  • Displasia epifiseal múltiple. Panel NGS 6 genes: COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
  • Displasia esquelética. Panel NGS 44 genes: ADAMTSL2, AGPS, ANKH, ARSE, CHST3, COL10A1, COL2A1, COMP, CTSK, DLL3, EBP, EVC, EVC2, FBN1, FGFR1, FGFR2, FGFR3, FLNB,  GNPAT, HES7, LFNG, LMNA, MESP2, PEX7, PTH1R, RUNX2, SLC26A2,  SLC35D1, SMARCAL1, SOST, SOX9, TGFB1, TNFRSF11A, TREM2, TYROBP, WNT7A, ZMPSTE24, CUL7, OBSL1, CCDC8, WNT5A, ROR2, TRAPPC2, GNAS
  • Displasia mandibuloacral con lipodistrofia tipo A (MADA). Panel NGS 2 genes: LMNA, ZMPSTE24
  • Disqueratosis congénita. Panel NGS 7 genes: CTC1, DKC1, TERT, TINF2, NHP2, NOP10, WRAP53
  • Distonía. Panel NGS 5 genes: GCH1, TAF1, ATP1A3, SGCE, PANK2
  • Distrofia corneal. Panel NGS 8 genes: TGFBI, UBIAD1, CHST6, VSX1, PIKFYVE, DCN, KRT12, KRT3
  • Distrofia de conos y bastones. Panel NGS 22 genes: PDE6H, KCNV2, GUCA1A, CACNA2D4, RPGR, CRX, ABCA4, CACNA1F, PDE6C, PITPNM3, GUCY2D, RIMS1, SEMA4A, RAX2, PROM1, RPGRIP1, CDHR1, RLBP1, UNC119, BEST1, CERKL, AIPL1
  • Distrofia macular. Panel NGS 11 genes: ABCA4, FBLN5, RAX2, CNGB3, RPGR, BEST1, ELOVL4, PRPH2, RP1L1, CDH3, PROM1
  • Encefalopatía epiléptica infantil. Panel NGS 36 genes: ALDH7A1, ARHGEF9, ARX, CDKL5, CHRNA2, CHRNA4, CHRNB2,  CSTB, EPM2A, GOSR2, KCNQ2, KCTD7, NHLRC1, PCDH19, PLCB1,  PNKP, PNPO, POLG, PRICKLE1, PRICKLE2, RARS2, SCARB2, SCN1A,  SCN2A, SCN8A, SLC25A22, SLC2A1, SPTAN1, ST3GAL3, ST3GAL5,  STXBP1, TBC1D24, TSEN2, TSEN34, TSEN54, VRK1
  • Enfermedad de almacenamiento de glucógeno. Panel NGS 19 genes: AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYS1, GYS2, LDHA, PFKM,  PGAM2, PHKA1, PHKA2, PHKB, PHKG2, PYGL, PYGM, SLC37A4,  PGM1
  • Enfermedad de Alzheimer. Panel NGS 82 Genes: A2M, ABCA1, ABCA2, ABCA7, ACE, ACTL9, ADAM10, ADRB2, APBB1, APBB2, APOE, APP, BACE1, BCHE, BIN1, BLMH, CALHM1, CCR2, CD33, CELF2, CETP, CHRNB2, CLU, COMT, CR1, CRB1, CST3, CTNNA2, CTNNA3, CTSD, DGKB, DLST, EPHA1, EXOC3L2, FAS, FLG, FPR2, GAB2, GSK3B, GSTO1, HFE, HSD11B1, IDE, IL1A, IL1B, IL8, KIF3A, KLK6, LDLR, LRP1, MEOX2, MPO, MS4A10, MTFR1, MTHFR, MYOCD, NEDD9, NOS3, NRG1, OPRD1, OVOL1, PAXIP1, PDE7A, PICALM, PLAU, PPARGC1A, PRNP, PSEN1, PSEN2, RCAN1, SLC30A3, SORCS1, SORL1, SREBF2, SRF, TF, TNK1, TOMM40, TREM2, UBQLN1, VEGFA, VLDLR 
  • Enfermedad de la orina con olor a jarabe de arce. Panel NGS 4 genes: BCKDHA, BCKDHB, DBT, DLD
  • Enfermedad de Niemann-Pick. Panel NGS 3 Genes: SMPD1, NPC1, NPC2
  • Enfermedad de Parkinson. Panel NGS 34 genes: ADH1C, ATP12A, ATP13A2, ATP1A3, ATXN2, ATXN3, COMT, EIF4G1, FAS, FBXO7, GBA, GIGYF2, GSK3B, GSTO1, HTRA2, IL1B, KLK6, LAMP2, LRRK2, MAPT, MC1R, NR4A2, PARK2, PARK7, PINK1, PLA2G6, PRKAG2, SNCA, SNCAIP, TAF1, TARDBP, TBP, UCHL1, VPS35 
  • Enfermedad no sindrómica de Hirschsprung. Panel NGS 5 genes: GDNF, EDNRB, EDN3, ECE1, RET
  • Enfermedades relacionadas con enfermedad de Marfan y aneurismas. Panel NGS 14 genes: ACTA2, CBS, FBN1, FBN2, MYH11, COL3A1, SMAD3, TGFBR1, TGFBR2,  MYLK, MSTN, COL5A2, TGFB2, SLC2A10
  • Epidermolisis Bullosa. Panel NGS 10 genes: KRT5, KRT14, ITGB4, ITGA6, PLEC, LAMB3, COL17A1, LAMC2, LAMA3, COL7A1
  • Epilepsia mioclónica progresiva. Panel NGS 8 genes: CSTB, SCARB2, NHLRC1, EPM2A, PRICKLE1, KCTD7, GOSR2, PRICKLE2
  • Epilepsia nocturna dominante del lóbulo frontal. Panel NGS 3 genes: CHRNA4, CHRNB2, CHRNA2
  • Esclerosis lateral amiotrófica familiar. Panel NGS 18 genes: ALS2, ANG, C9orf72, CHMP2B, FIG4, FUS, OPTN, PFN1, SETX, SIGMAR1,  SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, HNRNPA1, MATR3
  • Feocromocitoma. Panel NGS 9 genes: SDHAF2, SDHB, SDHC, SDHD, RET, VHL, MAX, NF1, TMEM127
  • Fibrosis congénita de los músculos extraoculares. Panel NGS 3 genes: KIF21A, TUBB3, PHOX2A
  • Demencia Frontotemporal. Panel NGS 8 genes: APOE, CHMP2B, FUS, GRN, MAPT, PSEN1, TARDBP, VCP
  • Gangliosidosis. Panel NGS 4 genes: Gen GLB1, GM2A, HEXA, HEXB
  • Sordera hereditaria (127 genes): ACTG1, ALMS1, ATP2B2, BSND, CACNA1D, CCDC50, CDH23, CEACAM16, CHD7, CLDN14, CLRN1, COCH, COL11A1, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, CRYM, DFNA5, DFNB31, DFNB59/PJVK, DIABLO, DIAPH1, DIAPH3, DLX5, DSPP, EDN3, EDNRB, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GLI3, GPR98, GPSM2, GRHL2, GRXCR1, HGF, HOXA1, HOXA2, IGF1, ILDR1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRP2, LRTOMT, MARVELD2, MIR96, MITF, MSRB3, MT-RNR1, MT-TE, MT-TK, MT-TL1, MT-TS1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NDP, OPA1, OTOA, OTOF, OTOG, PAX2, PAX3, PCDH15, PDSS1, PDZD7, PHEX, POU3F4, POU4F3, PRPS1, PRRX1, PTPRQ, RDX, SEMA3E, SERAC1, SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC4A11, SMAD4, SMPX, SNAI2, SOBP, SOX10, SOX9, STRC, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNFRSF11B, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1  Sordera no sindrómica (81 genes): GJB2, GJB3, MT-RNR1, SLC26A4, ACTG1, ATP2B2, BSND, CACNA1D, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, CRYM, DFNA5, DFNB31, DFNB59/PJVK, DIABLO, DIAPH1, DIAPH3, DSPP, ESPN, ESRRB, EYA4, FOXI1, GIPC3, GJA1, GJB6, GPR98, GPSM2, GRHL2, GRXCR1, HGF, ILDR1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MIR96, MSRB3, MT-TS1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, OTOG, PCDH15, PDZD7, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8, SLC26A5, SMPX, STRC, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1 Sordera sindrómica (66 genes): ACTG1, ALMS1, ATP2B2, BSND, CACNA1D, CCDC50, CDH23, CEACAM16, CHD7, CLDN14, CLRN1, COCH, COL11A1, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, CRYM, DFNA5, DFNB31, DFNB59/PJVK, DIABLO, DIAPH1, DIAPH3, DLX5, DSPP, EDN3, EDNRB, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GLI3, GPR98, GPSM2, GRHL2, GRXCR1, HGF, HOXA1, HOXA2, IGF1, ILDR1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRP2, LRTOMT, MARVELD2, MIR96, MITF, MSRB3, MT-RNR1, MT-TE, MT-TK, MT-TL1, MT-TS1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NDP, OPA1, OTOA, OTOF, OTOG, PAX2, PAX3, PCDH15, PDSS1, PDZD7, PHEX, POU3F4, POU4F3, PRPS1, PRRX1, PTPRQ, RDX, SEMA3E, SERAC1, SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC4A11, SMAD4, SMPX, SNAI2, SOBP, SOX10, SOX9, STRC, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNFRSF11B, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1
  • Hemocromatosis hereditaria. Panel NGS 5 genes: HAMP, HFE, HFE2, SLC40A1, TFR2
  • Hiperinsulinismo congénito (CHI). Panel NGS 11 Genes: ABCC8, KCNJ11, GCK, HADH, INSR, GLUD1, HNF4A, HNF1A, UCP2, FOXA2, SLC16A1
  • Hiperoxaluria primaria. Panel NGS 2 Genes: AGXT, GRHPR
  • Hiperprolinemia. Panel NGS 2 Genes: PRODH, ALDH4A1
  • Hipogonadismo hipogonadotrópico congénito. Panel NGS 18 genes: KAL1, FGF8, FGFR1, SPRY4, PROK2, CHD7, GNRHR, KISS1R, TAC3,  TACR3, GNRH1, KISS1, WDR11, IL17RD, DUSP6, FGF17, FLRT3, PROKR2
  • Hipoplasia pontocerebelar. Panel NGS 5 genes: TSEN2, TSEN34, TSEN54, RARS2, VRK1
  • Holoprosencefalia no sindrómica. Panel NGS 14 genes: SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1, CDON, FOXH1, NODAL,  TDGF1, GAS1, DLL1, FGF8
  • Homocistinuria. Panel NGS 6 genes: CBS, MTHFR, MTR, MTRR, MMADHC, MMACHC
  • Ictiosis y erirtroderma ictiosiforme. Panel NGS 25 genes: ABCA12, ALOX12B, ALOXE3, CLDN1, COL17A1, COL7A1, CYP4F22, FLG, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MBTPS2,  NIPAL4, PLEC, PNPLA1, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1
  • Immunodeficiencia. Panel NGS 32 genes: ADA, AK2, ATM, BLNK, BTK, CD19, CD3D, CD3E, CD3G, CD79A,  CD79B, CD81, CORO1A, CR2, DCLRE1C, ICOS, IKBKG, IL2RG, IL7R,  JAK3, LIG4, LRBA, MS4A1, NFKBIA, PNP, PTPRC, RAG1, RAG2, SP110, TNFRSF13B, TNFRSF13C, ZAP70 
  • Inmunodeficiencia combinada severa. Panel NGS 9 genes: IL2RG, ADA, JAK3, ZAP70, RAG1, RAG2, DCLRE1C, PTPRC, IL7R 
  • Inmunodeficiencia común variable. Panel NGS 8 genes: ICOS, TNFRSF13B, CD19, TNFRSF13C, MS4A1, CD81, CR2, LRBA
  • Leucoencefalopatía. Panel NGS 54 genes: ABCD1, ACOX1, ALDH3A2, ARSA, ASPA, CSF1R, CYP27A1, DARS2,  EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HSD17B4, HTRA1, L2HGDH,  MLC1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19,  PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC17A5, SOX10,  SUMF1, TREM2, TREX1, TYROBP
  • Linfohistiocitosis hemofagocítica familiar. Panel NGS 4 genes: PRF1, STX11, STXBP2, UNC13D
  • Lipodistrofia congénita generalizada (CGL) / Síndrome de Berardinelli-Seip. Panel NGS 4 genes: AGPAT2, BSCL2, CAV1, PTRF
  • Lipodistrofia congénita generalizada. Panel NGS 4 genes: AGPAT2, BSCL2, CAV1, PTRF
  • Lipofucinosis ceroide neuronal. Panel NGS 13 genes: PPT1, TPP1, CLN3, CLN6, CLN5, MFSD8, CLN8, CTSD, DNAJC5,  CTSF, KCTD7, ATP13A2, GRN
  • Melanoma. Panel NGS 2 genes: CDKN2A, CDK4
  • Microftalmia / Anoftalmia. Panel NGS 38 genes: ABCB6, BCOR, BMP4, CHD7, ERCC6, ERCC8, GDF3, GDF6, HCCS,  HESX1, IKBKG, MFRP, MKS1, NDP, OTX2, PAX2, PAX6, POMT1,  PRSS56, RAX, SHH, SIX6, SMOC1, SOX2, STRA6, TMEM67, VAX1, VSX2
  • Miocardiopatía arritmogénica del ventrículo derecho / ARVC. Panel NGS 7 genes: DSC2, DSG2, TMEM43, PKP2, DSP, RyR2, JUP
  • Miocardiopatía con defectos en la conducción / DCM+CCD. Panel NGS 2 genes: SCN5A, LMNA
  • Miocardiopatía dilatada / DCM. Panel NGS 23 genes: TNNT2, MYH7, CSRP3, PLN, TCAP, ABCC9, LMNA, DMD, TAZ, TTN, VCL, EYA4, EMD, ACTN2, SGCD, ACTC1, TNNI3, TPM1, MYBPC3, LDB3, MYH6, CTF1, DES
  • Miocardiopatía hipertrófica / HCM. Panel NGS 16 genes: MYH7, MYBPC3, TNNT2, TNNI3, TPM1, ACTC1, MYL2, MYL3, MYH6, LAMP2, PRKAG2, CSRP3, GLA, VCL, TNNC1, TTR
  • Miocardiopatía restrictiva / RCM. Panel NGS 3 genes: MYH7, TNNT2, TNNI3
  • Mucolipidosis. Panel NGS 4 genes: NEU1, GNPTAB, GNPTG, MCOLN1
  • Mucopolisacaridosis. Panel NGS 10 genes: ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, IDS, IDUA, SGSH, NAGLU
  • Neoplasia endocrina múltiple. Panel NGS 3 genes: MEN1, RET, CDKN1B
  • Neurofibromatosis. Panel NGS 2 genes: NF1, NF2
  • Neuropatías motoras sensoriales hereditarias. Panel NGS 37 genes: AARS, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1,  HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2,  MPZ, MTMR2, NDRG1, NEFL, PMP22, PRPS1, PRX, RAB7A, SBF2,  SBF1, SH3TC2, TRPV4, YARS, BSCL2, INF2, AIFM1, DHTKD1, PDK3, GNB4
  • Neuropatías sensitivas y autonómicas hereditarias. Panel NGS 10 genes: WNK1, FAM134B, KIF1A, NTRK1, NGF, DNMT1, SPTLC1, SPTLC2, DST, ATL1
  • Diasquinesia ciliar primaria. Panel NGS 20 genes: RMC4, CCDC103, CCDC114, CCDC39, CCDC40, DNAAF1, DNAAF2,  DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, HEATR2, HYDIN,  LRRC6, NME8, RSPH4A, RSPH9, ZMYND10
  • Nistagmus. Panel NGS 2 genes: FRMD7, GPR143
  • Osteopetrosis; Síndrome de Albers-Schonberg. Panel NGS 10 genes: LRP5, CLCN7, TCIRG1, TNFSF11, CA2, OSTM1, PLEKHM1, TNFRSF11A, SNX10, IKBKG
  • Pancreatitis hereditaria. Panel NGS 5 genes: PRSS1, SPINK1, CFTR, SBDS, UBR1
  • Cáncer hereditario femenino (16 tipos de cáncer hereditario). Panel NGS 49 genes: APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, EPCAM, EXT1, EXT2, FH, FLCN, MAX, MEN1, MET, MLH1, MLH3, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NTRK1, PALB2, PMS1, PMS2, PTEN, RAD50, RAD51C, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TMEM127, TP53, VHL
  • Panel NGS para análisis de >500 genes implicados en respuesta, predicción, toxicidad o selección de quimioterapia. BIOPSIA LÍQUIDA. Panel NGS Quimioterapias: 5-FU, Anastrozole, Azathioprine, Bisantrene, Capecitabine, Carboplatin, Cisplatin, Cyclophosphamide, Cytarabine, Daunorubicin, Docetaxel, Doxorubicin, Epirubicin, Etoposide, Gemcitabine, Idarubicin, Ifosfamide, Irinotecan, Letrozole, Mercaptopurine, Methotrexate, Oxaliplatin, Paclitaxel, Tamoxifen, Thioguanine, Vincristine     Clinical trial / Pre Trial: Crenolanib, Neratinib, Midostaurin, Nintedanib, Ridaforolimus, Linsitinib, Tivantinib, Necitumumab, Epratuzumab, Mogamulizumab, Lumiliximab, Galiximab, Adecatumumab, Elotuzumab, Farletuzumab, Ocrelizumab, Quizartinib, Triciribine, AP26113, AZD4547, MEK162, NVP-TAE684, PR81, R1507, SU5614, WZ4002, XL888,     Terapia dirigida: Ado-trastuzumab, Afatinib, Alectinib, Alemtuzumab, Axitinib, Bevacizumab, Bortezomib, Bosutinib, Cabozantinib, Carfilzomib, Ceritinib, Cetuximab, Crizotinib, Dabrafenib, Dasatinib, Erlotinib, Everolimus, Gefitinib, Ibrutinib, Icotinib, Imatinib, Ipilimumab, Lapatinib, Lenvatinib, Nilotinib, Nivolumab, Obinutuzumab, Olaparib, Osimertinib(AZD9291), Palbociclib, Panitumumab, Pazopanib, Pembrolizumab, Pertuzumab, Ponatinib, Ramucirumab, Regorafenib, Rituximab, Ruxolitinib, Sirolimus, Sorafenib, Sunitinib, Temsirolimus, Trametinib, Trastuzumab, Vandetanib, Vemurafenib, Vismodegib, Vorinostat Genes: ABL1, C1R, DIS3, FGF19, HSPA4, MIR142, PAX5, RB1, SRSF2, ABL2, C1S, DNMT1, FGF23, IDH1, MITF, PBRM1, REL, SSTR2, ABL2, C1S, DNMT1, FGF23, IDH1, MITF, PBRM1, REL, SSTR2, ACVR1B, CARD11, DNMT3A, FGF3, IDH2, MLH1, PCBP1, RET, STAG2, ACVR2A, CASP8, DOT1L, FGF4, IFNAR1, MLH3, PCM1, RHEB, STAT4, AJUBA, CBFB, DUSP6, FGF6, IFNAR2, MLL, PDGFRA, RICTOR, STAT5B, AKT1, CBL, EDNRA, FGF7, IGF1, MLL2, PDGFRB, RNASEL, STK11, AKT2, CBLB, EGFR, FGFR1, IGF1R, MLL3, PDK1, RNF43, SUFU, AKT3, CBR1, EGR3, FGFR2, IGF2, MLL4, PHF6, ROBO1, SUZ12, ALK, CCND1, EIF4A2, FGFR3, IKBKB, MPL, PIGF, ROBO2, SYK, ALOX12B, CCND2, ELAC2, FGFR4, IKBKE, MRE11A, PIK3C2A, ROS1, TAF1, ANGPT1, CCND3, ELF3, FH, IKZF1, MS4A1, PIK3C2B, RPA1, TBL1XR1, ANGPT2, CCNE1, EML4, FLCN, IL7R, MSH2, PIK3C2G, RPL22, TBX3, APC, CD79A, EP300, FLT1, INHBA, MSH3, PIK3C3, RPL5, TEK, APCDD1, CD79B, EPCAM, FLT3, IRF4, MSH4, PIK3CA, RPS14, TERT, AR, CDC25C, EPHA2, FLT4, IRS2, MSH5, PIK3CB, RPS6KB1, TET2, ARAF, CDC42, EPHA3, FNTA, ITGB2, MSH6, PIK3CG, RPTOR, TFG, ARFRP1, CDC73, EPHA5, FOXA1, JAK1, MSR1, PIK3R1, RUNX1, TGFBR2, ARHGAP35, CDH1, EPHB1, FOXA2, JAK2, MTOR, PIK3R2, RUNX1T1, TIPARP, ARID1A, CDK12, EPHB2, FOXL2, JAK3, MUC1, PLK1, RXRA, TLR4, ARID1B, CDK2, EPHB6, FPGS, JUN, MUTYH, PML, RXRB, TMEM127, ARID2, CDK4, EPPK1, FUBP1, KAT6A, MYC, PMS1, RXRG, TNFAIP3, ARID5B, CDK6, ERBB2, FYN, KDM5A, MYCL1, PMS2, SDHAF2, TNFRSF14, ASXL1, CDK8, ERBB3, GAB2, KDM5C, MYCN, PNRC1, SDHB, TNFRSF8, ATM, CDKN1A, ERBB4, GATA1, KDM6A, MYD88, POLQ, SDHC, TNFSF11, ATR, CDKN1B, ERCC2, GATA2, KDR, NAV3, PPP2R1A, SDHD, TNFSF13B, ATRX, CDKN2A, ERCC3, GATA3, KEAP1, NBN, PRDM1, SEMA3A, TOP1, AURKA, CDKN2B, ERG, GID4, KIF1B, NCOA1, PRKAA1, SEMA3E, TOP2A, AURKB, CDKN2C, ESR1, GNA11, KIF5B, NCOA2, PRKAR1A, SETBP1, TOP2B, AXIN1, CDX2, ETV1, GNA13, KIT, NCOR1, PRKCA, SETD2, TP53, AXIN2, CEBPA, ETV6, GNAQ, KLF4, NEK11, PRKCB, SF1, TRAF7, AXL, CFLAR, EWSR1, GNAS, KLHL6, NF1, PRKCG, SF3B1, TSC1, B2M, CHD1, EXT1, GNRHR, KRAS, NF2, PRKDC, SH2B3, TSC2, B4GALT3, CHD2, EXT2, GPR124, LCK, NFE2L2, PRSS8, SIN3A, TSHR, BACH1, CHD4, EZH2, GRIN2A, LIMK1, NFE2L3, PSMB1, SLAMF7, TSHZ2, BAK1, CHEK1, FAM123B, GRM3, LRRK2, NFKBIA, PSMB2, SLC4A1, TSHZ3, BAP1, CHEK2, FAM46C, GSK3B, LYN, NKX2-1, PSMB5, SLIT2, TUBA1A, BARD1, CHUK, FANCA, H3F3A, MALAT1, NKX3-1, PTCH1, SMAD2, TUBB, BCL2, CIC, FANCC, H3F3C, MAP2K1, NOTCH1, PTCH2, SMAD3, TUBD1, BCL2A1, CRBN, FANCD2, HCK, MAP2K2, NOTCH2, PTEN, SMAD4, TUBE1, BCL2L1, CREBBP, FANCE, HDAC1, MAP2K4, NOTCH3, PTP4A3, SMARCA1, TUBG1, BCL2L11, CRIPAK, FANCF, HDAC2, MAP3K1, NOTCH4, PTPN11, SMARCA4, TYR, BCL2L2, CRKL, FANCG, HDAC3, MAP3K13, NPM1, PTPRD, SMARCB1, U2AF1, BCL6, CRLF2, FANCI, HDAC4, MAPK1, NR3C1, RAC1, SMARCD1, USP9X, BCOR, CROT, FANCL, HDAC6, MAPK3, NRAS, RAC2, SMC1A, VEGFA, BCORL1, CSF1R, FANCM, HDAC8, MAPK8, NSD1, RAD21, SMC3, VEGFB, BCR, CTCF, FAT3, HGF, MAPK8IP1, NTRK1, RAD50, SMO, VEZF1, BLM, CTLA4, FBXW7, HIF1A, MAX, NTRK2, RAD51, SOCS1, VHL, BMPR1A, CTNNA1, FCGR1A, HIST1H1C, MC1R, NTRK3, RAD51B, SOX10, WHSC1L1, BRAF, CTNNB1, FCGR2A, HIST1H2BD, MCL1, NUP93, RAD51C, SOX17, WISP3, BRCA1, CUL4A, FCGR2B, HIST1H3B, MDM2, PAK3, RAD51D, SOX2, WWP1, BRCA2, CUL4B, FCGR2C, HNF1A, MDM4, PAK7, RAD52, SOX9, XIAP, BRIP1, CYLD, FCGR3A, HRAS, MECOM, PALB2, RAD54L, SPEN, XPA, BTG1, CYP17A1, FCGR3B, HRH2, MED12, PARP1, RAF1, SPOP, XPC, BTK, DAXX, FGF10, HSD17B3, MEF2B, PARP2, RARA, SPRY4, XPO1, C11orf30, DDR1, FGF12, HSD3B2, MEN1, PARP3, RARB, SRC, XRCC3, C1QA, DDR2, FGF14, HSP90AA1, MET, PARP4, RARG, SRD5A2, YES1, ZNF217, ZNF703, ZRSR2, WT1
  • Panel para análisis de >500 genes implicados en respuesta, predicción, toxicidad o selección de quimioterapia. TEJIDO/PARAFINA. Panel NGS  Quimioterapias:  5-FU, Anastrozole, Azathioprine, Bisantrene, Capecitabine, Carboplatin, Cisplatin, Cyclophosphamide, Cytarabine, Daunorubicin, Docetaxel, Doxorubicin, Epirubicin, Etoposide, Gemcitabine, Idarubicin, Ifosfamide, Irinotecan, Letrozole, Mercaptopurine, Methotrexate, Oxaliplatin, Paclitaxel, Tamoxifen, Thioguanine, Vincristine     Clinical trial / Pre Trial: Crenolanib, Neratinib, Midostaurin, Nintedanib, Ridaforolimus, Linsitinib, Tivantinib, Necitumumab, Epratuzumab, Mogamulizumab, Lumiliximab, Galiximab, Adecatumumab, Elotuzumab, Farletuzumab, Ocrelizumab, Quizartinib, Triciribine, AP26113, AZD4547, MEK162, NVP-TAE684, PR81, R1507, SU5614, WZ4002, XL888,  Terapia dirigida: Ado-trastuzumab, Afatinib, Alectinib, Alemtuzumab, Axitinib, Bevacizumab, Bortezomib, Bosutinib, Cabozantinib, Carfilzomib, Ceritinib, Cetuximab, Crizotinib, Dabrafenib, Dasatinib, Erlotinib, Everolimus, Gefitinib, Ibrutinib, Icotinib, Imatinib, Ipilimumab, Lapatinib, Lenvatinib, Nilotinib, Nivolumab, Obinutuzumab, Olaparib, Osimertinib(AZD9291), Palbociclib, Panitumumab, Pazopanib, Pembrolizumab, Pertuzumab, Ponatinib, Ramucirumab, Regorafenib, Rituximab, Ruxolitinib, Sirolimus, Sorafenib, Sunitinib, Temsirolimus, Trametinib, Trastuzumab, Vandetanib, Vemurafenib, Vismodegib, Vorinostat     Genes: ABL1, C1R, DIS3, FGF19, HSPA4, MIR142, PAX5, RB1, SRSF2, ABL2, C1S, DNMT1, FGF23, IDH1, MITF, PBRM1, REL, SSTR2, ABL2, C1S, DNMT1, FGF23, IDH1, MITF, PBRM1, REL, SSTR2, ACVR1B, CARD11, DNMT3A, FGF3, IDH2, MLH1, PCBP1, RET, STAG2, ACVR2A, CASP8, DOT1L, FGF4, IFNAR1, MLH3, PCM1, RHEB, STAT4, AJUBA, CBFB, DUSP6, FGF6, IFNAR2, MLL, PDGFRA, RICTOR, STAT5B, AKT1, CBL, EDNRA, FGF7, IGF1, MLL2, PDGFRB, RNASEL, STK11, AKT2, CBLB, EGFR, FGFR1, IGF1R, MLL3, PDK1, RNF43, SUFU, AKT3, CBR1, EGR3, FGFR2, IGF2, MLL4, PHF6, ROBO1, SUZ12, ALK, CCND1, EIF4A2, FGFR3, IKBKB, MPL, PIGF, ROBO2, SYK, ALOX12B, CCND2, ELAC2, FGFR4, IKBKE, MRE11A, PIK3C2A, ROS1, TAF1, ANGPT1, CCND3, ELF3, FH, IKZF1, MS4A1, PIK3C2B, RPA1, TBL1XR1, ANGPT2, CCNE1, EML4, FLCN, IL7R, MSH2, PIK3C2G, RPL22, TBX3, APC, CD79A, EP300, FLT1, INHBA, MSH3, PIK3C3, RPL5, TEK, APCDD1, CD79B, EPCAM, FLT3, IRF4, MSH4, PIK3CA, RPS14, TERT, AR, CDC25C, EPHA2, FLT4, IRS2, MSH5, PIK3CB, RPS6KB1, TET2, ARAF, CDC42, EPHA3, FNTA, ITGB2, MSH6, PIK3CG, RPTOR, TFG, ARFRP1, CDC73, EPHA5, FOXA1, JAK1, MSR1, PIK3R1, RUNX1, TGFBR2, ARHGAP35, CDH1, EPHB1, FOXA2, JAK2, MTOR, PIK3R2, RUNX1T1, TIPARP, ARID1A, CDK12, EPHB2, FOXL2, JAK3, MUC1, PLK1, RXRA, TLR4, ARID1B, CDK2, EPHB6, FPGS, JUN, MUTYH, PML, RXRB, TMEM127, ARID2, CDK4, EPPK1, FUBP1, KAT6A, MYC, PMS1, RXRG, TNFAIP3, ARID5B, CDK6, ERBB2, FYN, KDM5A, MYCL1, PMS2, SDHAF2, TNFRSF14, ASXL1, CDK8, ERBB3, GAB2, KDM5C, MYCN, PNRC1, SDHB, TNFRSF8, ATM, CDKN1A, ERBB4, GATA1, KDM6A, MYD88, POLQ, SDHC, TNFSF11, ATR, CDKN1B, ERCC2, GATA2, KDR, NAV3, PPP2R1A, SDHD, TNFSF13B, ATRX, CDKN2A, ERCC3, GATA3, KEAP1, NBN, PRDM1, SEMA3A, TOP1, AURKA, CDKN2B, ERG, GID4, KIF1B, NCOA1, PRKAA1, SEMA3E, TOP2A, AURKB, CDKN2C, ESR1, GNA11, KIF5B, NCOA2, PRKAR1A, SETBP1, TOP2B, AXIN1, CDX2, ETV1, GNA13, KIT, NCOR1, PRKCA, SETD2, TP53, AXIN2, CEBPA, ETV6, GNAQ, KLF4, NEK11, PRKCB, SF1, TRAF7, AXL, CFLAR, EWSR1, GNAS, KLHL6, NF1, PRKCG, SF3B1, TSC1, B2M, CHD1, EXT1, GNRHR, KRAS, NF2, PRKDC, SH2B3, TSC2, B4GALT3, CHD2, EXT2, GPR124, LCK, NFE2L2, PRSS8, SIN3A, TSHR, BACH1, CHD4, EZH2, GRIN2A, LIMK1, NFE2L3, PSMB1, SLAMF7, TSHZ2, BAK1, CHEK1, FAM123B, GRM3, LRRK2, NFKBIA, PSMB2, SLC4A1, TSHZ3, BAP1, CHEK2, FAM46C, GSK3B, LYN, NKX2-1, PSMB5, SLIT2, TUBA1A, BARD1, CHUK, FANCA, H3F3A, MALAT1, NKX3-1, PTCH1, SMAD2, TUBB, BCL2, CIC, FANCC, H3F3C, MAP2K1, NOTCH1, PTCH2, SMAD3, TUBD1, BCL2A1, CRBN, FANCD2, HCK, MAP2K2, NOTCH2, PTEN, SMAD4, TUBE1, BCL2L1, CREBBP, FANCE, HDAC1, MAP2K4, NOTCH3, PTP4A3, SMARCA1, TUBG1, BCL2L11, CRIPAK, FANCF, HDAC2, MAP3K1, NOTCH4, PTPN11, SMARCA4, TYR, BCL2L2, CRKL, FANCG, HDAC3, MAP3K13, NPM1, PTPRD, SMARCB1, U2AF1, BCL6, CRLF2, FANCI, HDAC4, MAPK1, NR3C1, RAC1, SMARCD1, USP9X, BCOR, CROT, FANCL, HDAC6, MAPK3, NRAS, RAC2, SMC1A, VEGFA, BCORL1, CSF1R, FANCM, HDAC8, MAPK8, NSD1, RAD21, SMC3, VEGFB, BCR, CTCF, FAT3, HGF, MAPK8IP1, NTRK1, RAD50, SMO, VEZF1, BLM, CTLA4, FBXW7, HIF1A, MAX, NTRK2, RAD51, SOCS1, VHL, BMPR1A, CTNNA1, FCGR1A, HIST1H1C, MC1R, NTRK3, RAD51B, SOX10, WHSC1L1, BRAF, CTNNB1, FCGR2A, HIST1H2BD, MCL1, NUP93, RAD51C, SOX17, WISP3, BRCA1, CUL4A, FCGR2B, HIST1H3B, MDM2, PAK3, RAD51D, SOX2, WWP1, BRCA2, CUL4B, FCGR2C, HNF1A, MDM4, PAK7, RAD52, SOX9, XIAP, BRIP1, CYLD, FCGR3A, HRAS, MECOM, PALB2, RAD54L, SPEN, XPA, BTG1, CYP17A1, FCGR3B, HRH2, MED12, PARP1, RAF1, SPOP, XPC, BTK, DAXX, FGF10, HSD17B3, MEF2B, PARP2, RARA, SPRY4, XPO1, C11orf30, DDR1, FGF12, HSD3B2, MEN1, PARP3, RARB, SRC, XRCC3, C1QA, DDR2, FGF14, HSP90AA1, MET, PARP4, RARG, SRD5A2, YES1, ZNF217, ZNF703, ZRSR2, WT1
  • Panel para la caracterización molecular de cáncer de pulmón. BIOPSIA LÍQUIDA. Panel NGS Terapias aprobadas por la FDA para cáncer de pulmón: Erlotinib, Gefitinib, Crizotinib, Afatinib, Ceritinib, Cetuximab; Terapias aprobadas por la FDA para otro tipo de tumores pero con relevancia en cáncer de pulmón: Transtuzumab, Panitumubab, Cabozantinib, Vermurafenib, Drabafenib, Dasatinib, Trametinib, Selumetinib, Vandetanib. Panel NGS Genes: EGFR, KRAS, ERBB2 (HER2), BRAF,DDR2, ALK, ROS1, MET, EGFR, PIK3CA, RET, Incluye 30 deleciones, 9 inserciones y 18 fusiones
  • Panel para la caracterización molecular de cáncer de pulmón. TEJIDO/PARAFINA. Panel NGS  Terapias aprobadas por la FDA para cáncer de pulmón: Erlotinib, Gefitinib, Crizotinib, Afatinib, Ceritinib, Cetuximab; Terapias aprobadas por la FDA para otro tipo de tumores pero con relevancia en cáncer de pulmón: Transtuzumab, Panitumubab, Cabozantinib, Vermurafenib, Drabafenib, Dasatinib, Trametinib, Selumetinib, Vandetanib. Panel NGS Genes: EGFR, KRAS, ERBB2 (HER2), BRAF,DDR2, ALK, ROS1, MET, EGFR, PIK3CA, RET, Incluye 30 deleciones, 9 inserciones y 18 fusiones
  • Panel para la caracterización molecular de cáncer colorectal. BIOPSIA LÍQUIDA. Panel NGS  Quimioterápicos: Cetuximab, Panitumumab, Nimotuzumab, Gefitinib, Vemurafenib, Bevacizumab, Regorafenib, PF-03084014 Genes: KRAS, NRAS, BRAF, PIK3CA, EGFR, PTEN, NOTCH2
  • Panel para la caracterización molecular de cáncer colorectal. TEJIDO/PARAFINA. Panel NGS  Quimioterápicos: Cetuximab, Panitumumab, Nimotuzumab, Gefitinib, Vemurafenib, Bevacizumab, Regorafenib, PF-03084014 Genes: KRAS, NRAS, BRAF, PIK3CA, EGFR, PTEN, NOTCH3
  • Paraganglioma familiar. Panel NGS 5 genes: SDHB, SDHC, SDHD, SDHAF2, VHL
  • Paraplejia espástica hereditaria. Panel NGS 37 genes: AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, BSCL2, C12orf65, CYP2U1,  CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GJC2, KIAA0196,  KIF1A, KIF5A, L1CAM, NIPA1, PLP1, PNPLA6, REEP1, RTN2, SLC16A2,  SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, VPS37A,  ZFYVE26, ZFYVE2, HSPD1 
  • Patología muscular hereditaria. Panel NGS 81 genes: ACTA1, AGRN, ANO5, ATP2A1, ATP1A3, BAG3, CACNA1S, CAPN3, CAV3, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, CLCN1, COL6A1, COL6A2, COL6A3, CRYAB, DES, DMD, DNAJB6, DOK7, DPAGT1, DRD2, DYSF, EMD, EPN1, FLNC, FHL1, FKRP, FKTN, GCH1, GFPT1, GNE, ISCU, ISPD, KBTBD13, LMNA, LAMA2, LARGE, LDB3, MATR3, MTM1, MUSK, MYH7, MYOT, NEB, PLEC, POMT1, POMT2, POMGNT1, PUS1, RAPSN, RYR1, SCN4A, SEPN1, SGCG, SGCA, SGCB, SGCD, SGCE, SLC30A10, SPR, SYNE1, SYNE2, TPM3, TPM2, TNNT1, TTN, TIMM8A, TH, TOR1A, TCAP, TRIM32, POMT1, TRAPPC11, TMEM43, VCP  
  • Patología renal quística hereditaria del adulto. Panel NGS 7 genes: VHL, TSC1, TSC2, UMOD, PKD1, PKD2, MUC1
  • Patologías del espectro branquio-oto-renal. Panel NGS 3 genes: EYA1, SIX5, SIX1
  • Poliposis. Panel NGS 11 genes: MLH1, MSH2, MSH6, EPCAM, APC, MUTYH, STK11, PTEN, SMAD4, BMPR1A, NF1
  • Porfiria. Panel NGS 8 genes: FECH, ALAS2, CPOX, HMBS, UROS, ALAD, PPOX, UROD
  • Pseudohipoaldosteronismo. Panel NGS 8 genes: NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK4, WNK1, KLHL3, CUL3
  • Raquitismo hereditario. Panel NGS 14 genes: ALPL, CLCN5, CLCNKB, CYP27B1, CYP2R1, DMP1, ENPP1, FAH,  FGF23, PHEX, SLC34A1, SLC34A3, VDR, OCRL
  • Retinitis pigmentosa. Panel NGS 57 genes: RP1, RP2, RPGR, RHO, PRPH2, ROM1, RP9, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, PRPF3, ABCA4, RPE65, EYS, CERKL, NRL, FAM161A, FSCN2, TOPORS, SNRNP200, SEMA4A, PRCD, NR2E3, MERTK, USH2A, PDE6B, PROM1, KLHL7, PDE6A, RGR, CNGB1, IDH3B, SAG, GUCA1B, CNGA1, BEST1, TTC8, C2orf71, ARL6, IMPG2, PDE6G, ZNF513, DHDDS, PRPF6, CLRN1, MAK, CDHR1, FLVCR1, RLBP1, SPATA7, AIPL1, LRAT, OFD1, CYP4V2
  • Sídrome QT largo. Panel NGS 12 genes: KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP9, SNTA1
  • Síndrome autoinmune proliferativo. Panel NGS 3 genes: FAS, FASLG, CASP10
  • Síndrome cardio-facio-cutáneo. Panel NGS 4 genes: BRAF, KRAS, MAP2K1, MAP2K2
  • Síndrome de Alport  y nefropatía por membrana basal fina. Panel NGS 3 genes: COL4A3, COL4A4, COL4A5
  • Síndrome de Alport autosómico. Panel NGS 2 genes: COL4A3, COL4A4
  • Síndrome de Bardet-Biedl. Panel NGS 18 genes: BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10,  TRIM32, BBS12, MKS1, CEP290, SDCCAG8, WDPCP, TMEM67, LZTFL1
  • Síndrome de Bartter. Panel NGS 4 genes: BSND, KCNJ1, SLC12A1, CLCNKB
  • Síndrome de Brugada. Panel NGS 7 genes: SCN5A, CACNA1C, CACNB2, GPD1L, SCN1B, KCNE3, SCN3B
  • Síndrome de Cornelia de Lange. Panel NGS 5 genes: NIPBL, SMC1A, SMC3, RAD21, HDAC8
  • Síndrome de Cowden. Panel NGS 6 genes: PTEN, SDHB, KLLN, SDHD, PIK3CA, AKT1
  • Síndrome de Ehlers-Danlos. Panel NGS 9 genes: ADAMTS2, B4GALT7, COL5A1, COL5A2, PLOD1, COL3A1, SLC39A13, COL1A1, COL1A2
  • Síndrome de Griscelli. Panel NGS 3 genes: MYO5A, RAB27A, MLPH
  • Síndrome de Joubert y patologías relacionadas. Panel NGS 21 genes: AHI1, ARL13B, CC2D2A, CEP41, CEP290, INPP5E, NPHP1, RPGRIP1L, TCTN1, TCTN2, TMEM67, TMEM138, TMEM216, TMEM237, TTC21B,  OFD1, KIF7, C5orf42, TCTN3, TMEM231, ZNF423
  • Síndrome de Kallmann. Panel NGS 6 genes: KAL1, FGFR1, PROKR2, PROK2, CHD7, FGF8
  • Síndrome de léntigo múltiple; Síndrome de Leopard. Panel NGS 3 genes: PTPN11, RAF1, BRAF
  • Síndrome de Lynch. Panel NGS 4 genes:  MLH1, MSH2, MSH6, EPCAM
  • Síndrome de Noonan. Panel NGS 7 genes:  PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF, MAP2K1
  • Síndrome de Pendred. Panel NGS 3 genes:  FOXI1, KCNJ10, SLC26A4
  • Síndrome de Senior-Loken. Panel NGS 5 genes:  NPHP1, NPHP4, IQCB1, CEP290, SDCCAG8
  • Síndrome de Stickler. Panel NGS 5 genes:  COL2A1, COL11A1, COL9A1, COL9A2, COL11A2
  • Síndrome de Treacher Collins. Panel NGS 3 genes: TCOF1, POLR1D, POLR1C
  • Síndrome de Usher. Panel NGS 13 genes: CDH23, DFNB31, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A, CLRN1, HARS, PDZD7, CIB2, ABHD12
  • Síndrome de Waardenburg. Panel NGS 7 genes: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
  • Síndrome de Weill-Marchesani. Panel NGS 3 genes: ADAMTS10, FBN1, LTBP2
  • Síndrome del nodo enfermo. Panel NGS 2 genes: SCN5A, HCN4
  • Síndrome linfoproliferativo ligado al X. Panel NGS 2 genes: SH2D1A, XIAP
  • Síndrome miasténico congénito. Panel NGS 8 genes: CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, RAPSN, SCN4A
  • Síndrome QT corto. Panel NGS 5 genes: KCNH2, KCNJ2, CACNA1C, CACNB2, KCNQ1
  • Síndromes de craneosinostosis asociados a FGFR. Panel NGS 3 genes: FGFR1, FGFR2, FGFR3
  • Síndromes por déficit de creatina. Panel NGS 2 genes: GAMT, SLC6A8
  • Taquicardia polimórfica ventricular catecolaminérgica / CPVT. Panel NGS 2 genes: RYR2, CASQ2
  • Telangiectasia Hemorrágica Hereditaria. Panel NGS 3 genes: ENG, ACVRL1, SMAD4
  • Tirosinemia. Panel NGS 3 genes: FAH, TAT, HPD
  • Transtornos del ciclo de la urea. Panel NGS 8 genes: ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15
  • Trastornos de la coagulación. Panel NGS 20 genes: F8, F9, VWF, F2, F5, FGA, FGB, FGG, GP1BA, WAS, ENG, ACVRL1, SMAD4, LYST, RBM8A, GATA1, MYH9, GALT, RASA1, ADAMTS13
  • Ventrículo izquierdo no compactado / LVNC. Panel NGS 13 genes: LDB3, TAZ, MYH7, MYBPC3, ACTC1, TNNT2, SCN5A, LMNA, DMPK, DTNA, AMPD1, PMP22, LMX1B
  • Vitroretinopatía exudativa familiar. Panel NGS 4 genes: FZD4, LRP5, TSPAN12, NDP 
  • Xeroderma Pigmentum. Panel NGS 9 genes: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
  • Displasia múltiple epifisaria. Panel NGS 6 genes: COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2 
  • Microcefalia primaria autosómica recesiva 10 genes: MCPH1, WDR62, CDK5RAP2, CEP152, CENPJ, STIL, SLC25A19, ASPM, CASC5, CEP135
  • Miopatía miofibrilar. Panel NGS 8 genes: BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT
  • Osteogénesis imperfecta. Panel NGS 13 genes: COL1A1, COL1A2, CRTAP, LEPRE1, SERPINF1, IFITM5, FKBP10, PPIB,  SP7, BMP1, SERPINH1, TMEM38B, WNT1
  • Paquioniquia congénita. Panel NGS 4 genes: KRT6A, KRT16, KRT6B, KRT17
     

No todas las opciones del mercado ofrecen la misma cobertura y la misma capacidad diagnóstica. Para saber la capacidad diagnóstica ante la que nos encontramos es muy importante tener claros dos conceptos: cobertura y profundidad.

  1. Cobertura es el porcentaje de regiones codificantes que se están estudiando. Una cobertura del 100% significa que somos capaces de detectar una mutación en cualquier parte del gen. Si tenemos una cobertura inferior al 100%, habrá regiones que no estaremos analizando.
     
  2. Profundidad es el número de veces que una región codificante está siendo amplificada o copiada. La secuenciación NGS se lleva a cabo mediante un sistema de lectura múltiple, es decir, cada región se copia múltiples veces. Para poder detectar una mutación en heterocigosis es necesaria una profundidad mínima de 20X. Por debajo de este número de copias muchas mutaciones pueden no ser detectadas. A mayor profundidad mayor capacidad de detección.

Todos los paneles de NGS de ICM presentan una profundidad media de 200X y mínima de 20X y con una cobertura del 100% de las regiones codificantes de todos los genes, lo que les otorga una capacidad diagnóstica. Las mutaciones por inserción/deleción de 10 nucleótidos o más no pueden ser detectadas mediante esta metodología. Esta tecnología tampoco permite la identificación de algunos tipos de mutaciones denominadas grandes deleciones o reordenamientos
 

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