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.

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.
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.