Paneles de secuenciaci�n. 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.

Trabajamos con tecnología Illumina, utilizando sondas IDT, lo que nos permite alcanzar una cobertura superior al 98%.

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.

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.
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