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Header NGS

Sequencing panels. NGS

Thanks to significant advances in next-generation sequencing (NGS), it has been possible to develop tests ranging from one single gene to panels with large groups of genes, including the exome, enhancing diagnostic capacity in a shorter amount of time and at more affordable prices.

NGS panels are genetic tests that include genes involved in a single disease. They are used when the phenotype of the patient is clear and the cause can be attributed to multiple genes. They can include from two to hundreds of genes. The panels available at ICM are developed by our team of experts based on the recommendations of the scientific community and the latest published articles. The genes included in these dynamic panels can vary depending on the scientific publications. ICM can also design panels at the request of specialists. If you need a specific panel, please let us know.

  • Glutaric acidaemia. 4-gene NGS panel: GCDH, ETFA, ETFB, ETFDH
  • Methylmalonic acidaemia and aciduria. 11-gene NGS panel: MUT, MMAA, MMAB, MCEE, MMADHC, SUCLA2, ACSF3, MMACHC, LMBRD1, ABCD4, SUCLG1
  • 3-Methylglutaconic aciduria. 5-gene NGS panel: AUH, OPA3, DNAJC19, TAZ, ATPAF2
  • Achromatopsia. 5-gene NGS panel: CNGA3, CNGB3, GNAT2, PDE6H, PDE6C
  • Oculocutaneous albinism. 17-gene NGS panel: GPR143, TYR, OCA2, SLC45A2, TYRP1, MC1R, SLC24A5, LYST, HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, BLOC1S6
  • Leber congenital amaurosis. 19-gene NGS panel: AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, LCA5, LRAT, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1, KCNJ13, NMNAT1
  • Expanded epilepsy panel. 194-gene NGS panel: 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
  • heart conditions, arrhythmia; cardiomyopathies, conduction defects. 61-gene NGS panel: 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
  • Diamond-Blackfan Anaemia. 9-gene NGS panel: RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17, RPS7
  • Fanconi Anaemia. 15-gene NGS panel: FANCA, FANCB, FANCC, BRCA2, FANCD2, FANCE, FANCF, FANCG,  FANCI, BRIP1, FANCL, FANCM, PALB2, RAD51C, SLX4
  • Congenital dyserythropoietic anaemia. 3-gene NGS panel: CDAN1, SEC23B, KLF1
  • Cerebral amyloid angiopathy. 3-gene NGS panel: CST3, APP, ITM2B
  • Single-gene NGS panel for Aniridia. Panel NGS Gen PAX6
  • Spinal muscular atrophy. 7-gene NGS panel: PLEKHG5, ATP7A, IGHMBP2, UBA1, DYNC1H1, TRPV4, SMN1
  • Optic atrophy. 3-gene NGS panel: OPA1, OPA3, TMEM126A
  • Hereditary colorectal cancer (including common POLE and POLD1 mutations). 14-gene NGS panel: APC, AXIN2, EPCAM, MLH1, MLH3, MSH2, MSH6, MUTYH, PMS1, PMS2, STK11, PTEN, SMAD4, BMPR1A
  • Endometrial cancer. 5-gene NGS panel: MLH1, MSH2, MSH6, PMS2, EPCAM
  • Breast/ovarian cancer. 21-gene NGS panel: BRCA1, BRCA2, CHEK2, PALB2, BRIP1, TP53, PTEN, STK11, CDH1, ATM, BARD1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, RAD50, RAD51C
  • Pancreatic cancer. 2-gene NGS panel: BRCA2, PALB2
  • Parathyroid cancer. 2-gene NGS panel: CDC73, MEN1
  • Prostate cancer. 3-gene NGS panel: BRCA1, BRCA2, CHEK2
  • Thyroid cancer. 2-gene NGS panel: RET, NTRK1
  • Gastric cancer. 6-gene NGS panel: CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM
  • Renal carcinoma. 4-gene NGS panel: VHL, MET, FH, FLCN
  • Congenital and hereditary night blindness. 11-gene NGS panel: : RHO, PDE6B, GNAT1, CACNA1F, NYX, GRM6, SLC24A1, TRPM1, CABP4, SAG, GRK1
  • Progressive familial intrahepatic cholestasis. 3-gene NGS panel: ATP8B1, ABCB11, ABCB4
  • Chondrosarcoma. 2-gene NGS panel: EXT1, EXT2
  • Breast/ovarian cancer. 2-gene NGS panel: BRCA1, BRCA2
  • Cutis Laxa. 8-gene NGS panel: : ATP6V0A2, FBLN5, EFEMP2, ELN, ATP7A, LTBP4, PYCR1, ALDH18A1
  • Male hereditary cancer (15 forms of hereditary cancer). 41-gene NGS panel: 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
  • Intellectual disability panel. 514-gene NGS panel: 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
  • Macular degeneration panel. 15-gene NGS panel: HMCN1,ABCA4, FBLN5, RAX2,CNGB3,RPGR,BEST1,GUCA1B,C1QTNF5,IMPG2, ELOVL4, PRPH2, RP1L1, CDH3, PROM1
  • Panel of hereditary myopathies. 68-gene NGS panel: 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
  • Nephropathy and renal disease panel. 355-gene NGS panel: 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 of hereditary peripheral neuropathies. 47-gene NGS panel: 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
  • Hereditary skeletal pathology. 363-gene NGS panel: 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, chromosome deletion, duplication or rearrangement 7q21.3, DHCR24, DHODH, DLL3, DLX3, DLX5, DMP1, Duplication in the HOXD cluster, duplications of chromosome 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
  • Developmental delay panel. 463-gene NGS panel: 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 of sexual development disorders. 219-gene NGS panel: 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 of disorders on the autistic spectrum. 13-gene NGS panel: CACNA1C, DHCR7, EN2, GAMT, MECP2, NLGN3, NLGN4X, NSD1, PDE8B, PTEN, RPL10, TSC1, TSC2
  • Congenital disorders of glycosylation. 33-gene NGS panel: 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 
  • Peroxisome biogenesis disorders; Spectrum of Zellweger Syndrome. 14-gene NGS panel: PHYH, PEX7, PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13,  PEX14, PEX16, PEX19, PEX26
  • Combined pituitary hormone deficiency. 8-gene NGS panel: POU1F1, PROP1, LHX3, LHX4, HESX1, OTX2, GLI2, SOX2
  • Carnitine-palmitoyltransferase deficiency. 2-gene NGS panel: CPT1A, CPT2
  • Primary coenzyme Q10 deficiency. 7-gene NGS panel: COQ2, PDSS1, PDSS2, ADCK3, COQ9, COQ6, APTX
  • Combined oxidative phosphorylation deficiency. 9-gene NGS panel: MRPS22, GFM1, FARS2, AARS2, MRPS16, TSFM, C12orf65, MTFMT, TUFM
  • Age-related macular degeneration. 57-gene NGS panel: 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
  • Permanent neonatal diabetes mellitus (PNDM). 15-gene NGS panel: KCNJ11 , ABCC8 , HNF1B, GCK, INS, PTF1A,  PDX1, GLIS3, RFX6, SLC19A2, GATA6, IER3IP1, PAX6, NEUROD1, NEUROG3
  • Transient neonatal diabetes mellitus (TNDM). 7-gene NGS panel: ZFP57, PLAGL1, HYMAI, ABCC8, KCNJ11, HNF1B, INS
  • Maturity onset diabetes of the young (MODY). 13-gene NGS panel: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11
  • Pulmonary surfactant metabolism dysfunction. 5-gene NGS panel: SFTPB, ABCA3, CSF2RA, CSF2RB, SFTPC
  • Autosomal recessive spondylocostal dysostosis. 4-gene NGS panel: DLL3, MESP2, LFNG, HES7
  • Ectodermal dysplasia. 6-gene NGS panel: EDA, EDAR, EDARADD, GJB6, IKBKG, NFKBIA
  • Multiple epiphyseal dysplasia. 6-gene NGS panel: COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
  • Skeletal dysplasia. 44-gene NGS panel: 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
  • Mandibuloacral dysplasia with type A lipodystrophy (MADA). 2-gene NGS panel: LMNA, ZMPSTE24
  • Dyskeratosis congenita. Panel NGS 7 genes: CTC1, DKC1, TERT, TINF2, NHP2, NOP10, WRAP53
  • Distonía. Panel NGS 5 genes: GCH1, TAF1, ATP1A3, SGCE, PANK2
  • Corneal dystrophy. 8-gene NGS panel: TGFBI, UBIAD1, CHST6, VSX1, PIKFYVE, DCN, KRT12, KRT3
  • Cone-rod dystrophy. 22-gene NGS panel: PDE6H, KCNV2, GUCA1A, CACNA2D4, RPGR, CRX, ABCA4, CACNA1F, PDE6C, PITPNM3, GUCY2D, RIMS1, SEMA4A, RAX2, PROM1, RPGRIP1, CDHR1, RLBP1, UNC119, BEST1, CERKL, AIPL1
  • Macular dystrophy. 11-gene NGS panel: ABCA4, FBLN5, RAX2, CNGB3, RPGR, BEST1, ELOVL4, PRPH2, RP1L1, CDH3, PROM1
  • Infantile epileptic encephalopathy. 36-gene NGS panel: 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
  • Glycogen storage disease. 19-gene NGS panel: AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYS1, GYS2, LDHA, PFKM,  PGAM2, PHKA1, PHKA2, PHKB, PHKG2, PYGL, PYGM, SLC37A4,  PGM1
  • Alzheimer’s Disease. 82-gene NGS panel: 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 
  • Maple syrup urine disease. 4-gene NGS panel: BCKDHA, BCKDHB, DBT, DLD
  • Enfermedad de Niemann-Pick. Panel NGS 3 Genes: SMPD1, NPC1, NPC2
  • Parkinson’s disease. 34-gene NGS panel: 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 
  • Hirschsprung’s disease. 5-gene NGS panel: GDNF, EDNRB, EDN3, ECE1, RET
  • Diseases related to Marfan syndrome and aneurysms. 14-gene NGS panel: ACTA2, CBS, FBN1, FBN2, MYH11, COL3A1, SMAD3, TGFBR1, TGFBR2,  MYLK, MSTN, COL5A2, TGFB2, SLC2A10
  • Epidermolysis bullosa. 10-gene NGS panel: KRT5, KRT14, ITGB4, ITGA6, PLEC, LAMB3, COL17A1, LAMC2, LAMA3, COL7A1
  • Progressive myoclonus epilepsy. 8-gene NGS panel: CSTB, SCARB2, NHLRC1, EPM2A, PRICKLE1, KCTD7, GOSR2, PRICKLE2
  • Dominant nocturnal frontal lobe epilepsy. 3-gene NGS panel: CHRNA4, CHRNB2, CHRNA2
  • Familial amyotrophic lateral sclerosis. 18-gene NGS panel: ALS2, ANG, C9orf72, CHMP2B, FIG4, FUS, OPTN, PFN1, SETX, SIGMAR1,  SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, HNRNPA1, MATR3
  • Pheochromocytoma. 9-gene NGS panel: SDHAF2, SDHB, SDHC, SDHD, RET, VHL, MAX, NF1, TMEM127
  • Congenital fibrosis of the extraocular muscles. 3-gene NGS panel: KIF21A, TUBB3, PHOX2A
  • Frontotemporal dementia. 8-gene NGS panel: APOE, CHMP2B, FUS, GRN, MAPT, PSEN1, TARDBP, VCP
  • Gangliosidosis. 4-gene NGS panel: Gen GLB1, GM2A, HEXA, HEXB
  • Hereditary deafness (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
  • Hereditary haemochromatosis. 5-gene NGS panel: : HAMP, HFE, HFE2, SLC40A1, TFR2
  • Congenital hyperinsulinism (CHI). 11-gene NGS panel: ABCC8, KCNJ11, GCK, HADH, INSR, GLUD1, HNF4A, HNF1A, UCP2, FOXA2, SLC16A1
  • Primary hyperoxaluria. 2-gene NGS panel: AGXT, GRHPR
  • Hyperprolinaemia. 2-gene NGS panel: : PRODH, ALDH4A1
  • Congenital hypogonadotropic hypogonadism. 18-gene NGS panel: KAL1, FGF8, FGFR1, SPRY4, PROK2, CHD7, GNRHR, KISS1R, TAC3,  TACR3, GNRH1, KISS1, WDR11, IL17RD, DUSP6, FGF17, FLRT3, PROKR2
  • Pontocerebellar hypoplasia. 5-gene NGS panel: : TSEN2, TSEN34, TSEN54, RARS2, VRK1
  • Nonsyndromic holoprosencephaly. 14-gene NGS panel: : SIX3, SHH, TGIF1, ZIC2, PTCH1, GLI2, DISP1, CDON, FOXH1, NODAL,  TDGF1, GAS1, DLL1, FGF8
  • Homocystinuria. 6-gene NGS panel: CBS, MTHFR, MTR, MTRR, MMADHC, MMACHC
  • Ichthyosis and ichthyosiform erythroderma. 25-gene NGS panel: 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
  • Immunodeficiency. 32-gene NGS panel: 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 
  • Severe combined immunodeficiency. 9-gene NGS panel: IL2RG, ADA, JAK3, ZAP70, RAG1, RAG2, DCLRE1C, PTPRC, IL7R 
  • Common variable immunodeficiency. 8-gene NGS panel: ICOS, TNFRSF13B, CD19, TNFRSF13C, MS4A1, CD81, CR2, LRBA
  • Leukoencephalopathy. 54-gene NGS panel: 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
  • Familial haemophagocytic lymphohistiocytosis. 4-gene NGS panel: PRF1, STX11, STXBP2, UNC13D
  • Congenital generalised lipodystrophy (CGL)/Berardinelli-Seip syndrome. 4-gene NGS panel: AGPAT2, BSCL2, CAV1, PTRF
  • Generalised congenital lipodystrophy. 4-gene NGS panel: AGPAT2, BSCL2, CAV1, PTRF
  • Neuronal ceroid lipofuscinosis. 13-gene NGS panel: PPT1, TPP1, CLN3, CLN6, CLN5, MFSD8, CLN8, CTSD, DNAJC5,  CTSF, KCTD7, ATP13A2, GRN
  • Melanoma. 2-gene NGS panel: CDKN2A, CDK4
  • Microphthalmia/Anophthalmia. 38-gene NGS panel: 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
  • Arrhythmogenic right ventricular cardiomyopathy/ARVC. 7-gene NGS panel: DSC2, DSG2, TMEM43, PKP2, DSP, RyR2, JUP
  • Cardiomyopathy with conduction defects/ DCM+CCD. 2-gene NGS panel: SCN5A, LMNA
  • Dilated cardiomyopathy/DCM. 23-gene NGS panel: TNNT2, MYH7, CSRP3, PLN, TCAP, ABCC9, LMNA, DMD, TAZ, TTN, VCL, EYA4, EMD, ACTN2, SGCD, ACTC1, TNNI3, TPM1, MYBPC3, LDB3, MYH6, CTF1, DES
  • Hypertrophic cardiomyopathy/HCM. 16-gene NGS panel: MYH7, MYBPC3, TNNT2, TNNI3, TPM1, ACTC1, MYL2, MYL3, MYH6, LAMP2, PRKAG2, CSRP3, GLA, VCL, TNNC1, TTR
  • Restrictive cardiomyopathy/RCM. 3-gene NGS panel: MYH7, TNNT2, TNNI3
  • Mucolipidosis. 4-gene NGS panel: NEU1, GNPTAB, GNPTG, MCOLN1
  • Mucopolysaccharidosis. 10-gene NGS panel: ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, IDS, IDUA, SGSH, NAGLU
  • Multiple endocrine neoplasia. 3-gene NGS panel: MEN1, RET, CDKN1B
  • Neurofibromatosis. 2-gene NGS panel: NF1, NF2
  • Hereditary sensory motor neuropathies. 37-gene NGS panel: 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
  • Hereditary sensory and autonomic neuropathies. 10-gene NGS panel: WNK1, FAM134B, KIF1A, NTRK1, NGF, DNMT1, SPTLC1, SPTLC2, DST, ATL1
  • Primary ciliary dyskinesia. 20-gene NGS panel: RMC4, CCDC103, CCDC114, CCDC39, CCDC40, DNAAF1, DNAAF2,  DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, HEATR2, HYDIN,  LRRC6, NME8, RSPH4A, RSPH9, ZMYND10
  • Nystagmus. 2-gene NGS panel: FRMD7, GPR143
  • Osteopetrosis; Albers-Schönberg disease. 10-gene NGS panel: LRP5, CLCN7, TCIRG1, TNFSF11, CA2, OSTM1, PLEKHM1, TNFRSF11A, SNX10, IKBKG
  • Hereditary pancreatitis. 5-gene NGS panel: PRSS1, SPINK1, CFTR, SBDS, UBR1
  • Hereditary female cancer (16 types of hereditary cancer). 49-gene NGS panel: 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
  • NGS panel for the analysis of >500 genes involved in response, prediction, toxicity or chemotherapy selection. LIQUID BIOPSY. NGS Chemotherapy Panel: 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,   targeted therapy: 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 for the analysis of >500 genes involved in response, prediction, toxicity or chemotherapy selection. TISSUE/PARAFFIN. NGS Chemotherapy Panels:  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,  targeted therapy: 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 for the molecular characterisation of lung cancer. LIQUID BIOPSY. NGS Panel therapies approved by the FDA for lung cancer: Erlotinib, Gefitinib, Crizotinib, Afatinib, Ceritinib, Cetuximab; Therapies approved by the FDA for other types of tumours that are also relevant to lung cancer: Transtuzumab, Panitumubab, Cabozantinib, Vermurafenib, Drabafenib, Dasatinib, Trametinib, Selumetinib, Vandetanib. NGS Panel Genes: EGFR, KRAS, ERBB2 (HER2), BRAF,DDR2, ALK, ROS1, MET, EGFR, PIK3CA, RET, Includes 30 deletions, 9 insertions and 18 fusions
  • Panel for the molecular characterisation of lung cancer. TISSUE/PARAFFIN. NGS Panel therapies approved by the FDA for lung cancer: Erlotinib, Gefitinib, Crizotinib, Afatinib, Ceritinib, Cetuximab; Therapies approved by the FDA for other types of tumours that are also relevant to lung cancer: Transtuzumab, Panitumubab, Cabozantinib, Vermurafenib, Drabafenib, Dasatinib, Trametinib, Selumetinib, Vandetanib. NGS Panel Genes: EGFR, KRAS, ERBB2 (HER2), BRAF,DDR2, ALK, ROS1, MET, EGFR, PIK3CA, RET, Includes 30 deletions, 9 insertions and 18 fusions
  • Panel for the molecular characterisation of colorectal cancer. LIQUID BIOPSY. NGS Panel Chemotherapies: Cetuximab, Panitumumab, Nimotuzumab, Gefitinib, Vemurafenib, Bevacizumab, Regorafenib, PF-03084014 Genes: KRAS, NRAS, BRAF, PIK3CA, EGFR, PTEN, NOTCH2
  • Panel for the molecular characterisation of colorectal cancer. TISSUE/PARAFFIN. NGS Panel Chemotherapies: Cetuximab, Panitumumab, Nimotuzumab, Gefitinib, Vemurafenib, Bevacizumab, Regorafenib, PF-03084014 Genes: KRAS, NRAS, BRAF, PIK3CA, EGFR, PTEN, NOTCH3
  • Familial paraganglioma. 5-gene NGS panel: SDHB, SDHC, SDHD, SDHAF2, VHL
  • Hereditary spastic paraplegia. 37-gene NGS panel: 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 
  • Hereditary muscular disorders. 81-gene NGS panel: 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  
  • Hereditary renal cystic disorders in adults. 7-gene NGS panel: VHL, TSC1, TSC2, UMOD, PKD1, PKD2, MUC1
  • Branchiootorenal spectrum disorders. 3-gene NGS panel: EYA1, SIX5, SIX1
  • Polyposis. 11-gene NGS panel: MLH1, MSH2, MSH6, EPCAM, APC, MUTYH, STK11, PTEN, SMAD4, BMPR1A, NF1
  • Porphyria. 8-gene NGS panel: FECH, ALAS2, CPOX, HMBS, UROS, ALAD, PPOX, UROD
  • Pseudohypoaldosteronism. 8-gene NGS panel: NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK4, WNK1, KLHL3, CUL3
  • Hereditary rickets. 14-gene NGS panel: ALPL, CLCN5, CLCNKB, CYP27B1, CYP2R1, DMP1, ENPP1, FAH,  FGF23, PHEX, SLC34A1, SLC34A3, VDR, OCRL
  • Retinitis pigmentosa. 57-gene NGS panel: 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
  • Long QT syndrome. 12-gene NGS panel: KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP9, SNTA1
  • Autoimmune lymphoproliferative syndrome. 3-gene NGS panel: FAS, FASLG, CASP10
  • Cardiofaciocutaneous syndrome. 4-gene NGS panel: BRAF, KRAS, MAP2K1, MAP2K2
  • Alport syndrome and thin basement membrane nephropathy. 3-gene NGS panel: COL4A3, COL4A4, COL4A5
  • Autosomal Alport syndrome. 2-gene NGS panel: COL4A3, COL4A4
  • Bardet-Biedl syndrome. 18-gene NGS panel: BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10,  TRIM32, BBS12, MKS1, CEP290, SDCCAG8, WDPCP, TMEM67, LZTFL1
  • Bartter syndrome. 4-gene NGS panel: BSND, KCNJ1, SLC12A1, CLCNKB
  • Brugada syndrome. 7-gene NGS panel: SCN5A, CACNA1C, CACNB2, GPD1L, SCN1B, KCNE3, SCN3B
  • Cornelia de Lange syndrome. 5-gene NGS panel: NIPBL, SMC1A, SMC3, RAD21, HDAC8
  • Cowden syndrome. 6-gene NGS panel: PTEN, SDHB, KLLN, SDHD, PIK3CA, AKT1
  • Ehlers-Danlos syndrome. 9-gene NGS panel: ADAMTS2, B4GALT7, COL5A1, COL5A2, PLOD1, COL3A1, SLC39A13, COL1A1, COL1A2
  • Griscelli syndrome. 3-gene NGS panel: MYO5A, RAB27A, MLPH
  • Joubert syndrome and related disorders. 21-gene NGS panel: AHI1, ARL13B, CC2D2A, CEP41, CEP290, INPP5E, NPHP1, RPGRIP1L, TCTN1, TCTN2, TMEM67, TMEM138, TMEM216, TMEM237, TTC21B,  OFD1, KIF7, C5orf42, TCTN3, TMEM231, ZNF423
  • Kallmann syndrome. 6-gene NGS panel: KAL1, FGFR1, PROKR2, PROK2, CHD7, FGF8
  • Multiple lentigines syndrome; Leopard syndrome. 3-gene NGS panel: : PTPN11, RAF1, BRAF
  • Lynch syndrome. 4-gene NGS panel: MLH1, MSH2, MSH6, EPCAM
  • Noonan syndrome. 7-gene NGS panel: PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF, MAP2K1
  • Pendred syndrome. 3-gene NGS panel: FOXI1, KCNJ10, SLC26A4
  • Senior-Loken syndrome. 5-gene NGS panel: NPHP1, NPHP4, IQCB1, CEP290, SDCCAG8
  • Stickler syndrome. 5-gene NGS panel: COL2A1, COL11A1, COL9A1, COL9A2, COL11A2
  • Treacher Collins syndrome. 3-gene NGS panel: TCOF1, POLR1D, POLR1C
  • Usher syndrome. 13-gene NGS panel: CDH23, DFNB31, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A, CLRN1, HARS, PDZD7, CIB2, ABHD12
  • Waardenburg syndrome. 7-gene NGS panel: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
  • Weill-Marchesani syndrome. 3-gene NGS panel: ADAMTS10, FBN1, LTBP2
  • Sick sinus syndrome. 2-gene NGS panel: : SCN5A, HCN4
  • X-linked lymphoproliferative disease. 2-gene NGS panel: SH2D1A, XIAP
  • Congenital myasthenic syndrome. 8-gene NGS panel: CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, RAPSN, SCN4A
  • Short QT syndrome. 5-gene NGS panel: KCNH2, KCNJ2, CACNA1C, CACNB2, KCNQ1
  • FGFR-related craniosynostosis syndromes. 3-gene NGS panel: FGFR1, FGFR2, FGFR3
  • Creatine deficiency syndromes. 2-gene NGS panel: GAMT, SLC6A8
  • Catecholaminergic polymorphic ventricular tachycardia/CPVT. 2-gene NGS panel: : RYR2, CASQ2
  • Hereditary haemorrhagic telangiectasia. 3-gene NGS panel: ENG, ACVRL1, SMAD4
  • Tyrosinaemia. 3-gene NGS panel: FAH, TAT, HPD
  • Urea cycle disorders. 8-gene NGS panel: : ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15
  • Coagulation disorders. 20-gene NGS panel: F8, F9, VWF, F2, F5, FGA, FGB, FGG, GP1BA, WAS, ENG, ACVRL1, SMAD4, LYST, RBM8A, GATA1, MYH9, GALT, RASA1, ADAMTS13
  • Left ventricular noncompaction/LVNC. 13-gene NGS panel: LDB3, TAZ, MYH7, MYBPC3, ACTC1, TNNT2, SCN5A, LMNA, DMPK, DTNA, AMPD1, PMP22, LMX1B
  • Familial exudative vitreoretinopathy. 4-gene NGS panel: FZD4, LRP5, TSPAN12, NDP 
  • Xeroderma pigmentosum. 9-gene NGS panel: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
  • Multiple epiphyseal dysplasia. 6-gene NGS panel: : COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2 
  • Autosomal recessive primary microcephaly, 10 genes: MCPH1, WDR62, CDK5RAP2, CEP152, CENPJ, STIL, SLC25A19, ASPM, CASC5, CEP135
  • Myofibrillar myopathy. 8-gene NGS panel: BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT
  • Osteogenesis imperfecta. 13-gene NGS panel: COL1A1, COL1A2, CRTAP, LEPRE1, SERPINF1, IFITM5, FKBP10, PPIB,  SP7, BMP1, SERPINH1, TMEM38B, WNT1
  • Pachyonychia congenita. 4-gene NGS panel: KRT6A, KRT16, KRT6B, KRT17

 
Not all the options available on the market offer the same coverage and same diagnostic capacity. To ascertain the diagnostic capacity of a technique, it is vital to understand two key concepts: coverage and depth.

  1. Coverage is the percentage of coding regions that are studied. A coverage of 100% indicates that we are capable of detecting a mutation in any part of the gene. If we have a coverage of less than 100%, there will be regions that will not be analysed.
     
  2. The depth is the number of times that a coding region is amplified or copied. NGS is carried through a multiple reading system, meaning that each region is copied multiple times. In order to detect a mutation in heterozygosis, the depth must be at least 20X. Depth below this number of copies means that many mutations may not be detected. Greater depth means greater detection capacity.

All of ICM’s NGS panels offer an average depth of 200X and a minimum of 20X as well as 100% coverage of the coding regions of all the genes, guaranteeing their diagnostic capacity. Mutations by insertion/deletion of 10 nucleotides or more cannot be detected using this methodology. This technology can also not be used to identify certain mutation types known as large deletions and rearrangements.

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Centro de Diagnóstico autorizado por la Xunta de Galicia, inscrito en el Registro de Centros Sanitarios con el Nº C-27-001187
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