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CBNUH(외주) NGS유전자 패널검사 list_(2023.07) CBNUH(외주) NGS 유전자 패널검사 List (2023.01)---------------------------유전성(유전질환)---------------------------------------------------1. [N147] 유전성 부정맥 유전자 패널검사(NGS-Arrhythmia panel)ANK2, CACNA1C, CALM1, CALM2, CALM3, CASQ2, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A, TRDN, CACNA2D1, CACNB2, SLC4A3, TANGO2, TECRL2. [N148] 유전성 심근병증 유전자 패널검사(NGS-Cardiomyopathy panel)AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALMS1, ALPK3, ARSB, ATP5F1D, ATPAF2, BAG3, BRAF, CACNA1C, CBL, CDH2, COA5, COA6, COX10, COX14, COX15, COX20, COX6B1, CPT2, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EPG5, FAH, FHL1, FHOD3, FKTN, FLNC, GAA, GLB1, GUSB, HADHA, HADHB, HCN4, HRAS, IDH2, IDS, IDUA, JPH2, JUP, KRAS, LAMP2, LMNA, LRPPRC, LZTR1, MAP2K1, MAP2K2, MIB1, MLYCD, MMUT, MRPL44, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEXN, NF1, NKX2-5, NONO, NRAS, NUBPL, PCCA, PCCB, PDLIM3, PKP2, PLN, PNPLA2, PPA2, PPCS, PPP1CB, PPP1R13L, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SGCD, SHOC2, SLC22A5, SLC25A20, SLC25A4, SOS1, SOS2, SURF1, TAFAZZIN, TMEM126B, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TSFM, TTN, TTR, VCL, ANK2, COX7B, CRYAB, EYA4, FASTKD2, FKRP, FLII, FNIP1, FOXRED1, GATA6, GLA, HFE, HGSNAT, LDB3, MMACHC, MRAS, MYLK3, NAA15, NAGLU, NDUFA4, NDUFB8, NRAP, PET100, PLD1, RASA2, RHBDF1, RPL3L, SGSH, SHMT2, SLC30A5, SPEG, TOR1AIP1, UQCC23. [N149] 유전성 수포성 표피박리증 및 어린선 패널검사(NGS-Dermatology panel)AAGAB, ABCA12, ALAS2, ALOX12B, ALOXE3, ANAPC1, APCDD1, AQP5, CARD14, CAST, CDH3, CDSN, CERS3, COL17A1, COL7A1, CSTA, CTSC, CYP4F22, DSC2, DSG1, DSG4, DSP, DST, EDA, EDAR, EDARADD, ENPP1, EXPH5, FECH, FERMT1, GJA1, GJB2, GJB3, GJB4, GJB6, HOXC13, HR, IKBKG, ITGA3, ITGA6, ITGB4, JUP, KDSR, KLHL24, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT74, KRT85, KRT9, LAMA3, LAMB3, LAMC2, LIPH, LPAR6, LSS, MSX1, NECTIN1, NECTIN4, NFKB2, NFKBIA, NIPAL4, PKP1, PLEC, PNPLA1, PORCN, RHBDF2, RMRP, RSPO1, SDR9C7, SERPINB7, SERPINB8, SLC27A4, SLURP1, SNAP29, ST14, STS, SULT2B1, TAT, TGM1, TGM5, TP63, TRPV3, TSPEAR, WNT10A, ALDH3A2, C3orf52, SMARCAD1, SNRPE4. [N151] 유전성 골격이형성증 유전자 패널검사(NGS-Skeletal dysplasia panel)ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARL6, ARSB, ARSL, ASXL1, ASXL2, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B3GLCT, B4GALT7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CCNQ, CDC45, CDH3, CDKN1C, CDT1, CEP120, CEP290, CFAP410, CHST14, CHST3, CHSY1, CILK1, CLCN5, CLCN7, COG1, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP27B1, CYP2R1, DDR2, DHCR24, DHCR7, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DMP1, DNMT3A, DOCK6, DPAGT1, DPM1, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EED, EFTUD2, EIF2AK3, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20C, FBN1, FBN2, FERMT3, FGF10, FGF16, FGF23, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FUCA1, FZD2, GALNS, GALNT3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GSC, GUSB, HDAC8, HES7, HGSNAT, HOXA13, HOXD13, HPGD, HSPG2, IDH1, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IKBKG, IL11RA, IL1RN, INPPL1, KAT6B, KIAA0753, KIF22, KIF7, KMT2D, LBR, LEMD3, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LTBP3, MAFB, MAN2B1, MAP3K7, MASP1, MATN3, MEGF8, MEOX1, MESP2, MGP, MKKS, MKS1, MMP13, MMP2, MNX1, MPDU1, MSX2, MYCN, NAGLU, NANS, NBAS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPR2, NSD1, NSDHL, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAPSS2, PAX3, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGT, PIGV, PIK3C2A, PIK3R1, PITX1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RASGRP2, RBM8A, RBPJ, RECQL4, RFT1, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SCARF2, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SFRP4, SGSH, SH3BP2, SH3PXD2B, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC35C1, SLC35D1, SLC39A13, SLCO2A1, SMAD3, SMAD4, SMARCAL1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SUMF1, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCIRG1, TCOF1, TCTN2, TCTN3, TENT5A, TERT, TGFB1, TGFB2, TGFBR2, TMCO1, TMEM165, TMEM216, TMEM231, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TTC8, TWIST1, TYROBP, VDR, WDPCP, WDR19, WDR35, WNT1, WNT10B, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, YY1, ZMPSTE24, ZSWIM6, ABL1, ANAPC1, ARCN1, B9D1, COG4, CSGALNACT1, DCC, EFNB1, EN1, FBLN1, GNPNAT1, GPX4, GZF1, HDAC4, HHAT, HNRNPK, HS2ST1, IGF1R, KAT6A, KDELR2, KIAA1217, LTBP1, MANBA, MBTPS1, MIR17HG, MMP9, MTX2, MYO18B, NEPRO, NMNAT1, NPR3, NXN, PAM16, PFN1, PISD, PKDCC, PLEKHM1, POLR1B, PRKG2, RAD21, RINT1, SCUBE3, SMAD6, TCF12, TGFBR1, TMEM251, TONSL, TWIST2, UBA2, UFSP2, VPS35L, WBP11, ZIC15. [N152] 유전성 저신장증 유전자 패널검사(NGS-Proportionate short stature panel)ACAN, ANKRD11, BLM, BRAF, BRCA2, BRIP1, CBL, CCDC8, CDKN1C, CUL7, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FGFR3, HMGA2, HRAS, IGF1, IGF1R, IGF2, KRAS, LZTR1, MAP2K1, MAP2K2, NBN, NRAS, OBSL1, PALB2, PIK3R1, PLAG1, PPP1CB, PTPN11, RAF1, RIT1, SHOC2, SLX4, SOS1, SOS2, SRCAP, TOP3A, TRIM37, UBE2T, ANAPC1, CCDC186, CEP57, COG4, FOXP4, INTS1, KDM3B, MSTO1, MTX2, NBAS, NHLRC2, NLRP2, NLRP5, NLRP7, PADI6, PLK4, RAP1B, RNPC3, SETD5, ZFP576. [N153] 유전성 결합조직질환 유전자 패널검사(NGS-Connective tissue disorder panel)ABL1, ACTA2, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, GORAB, IPO8, LOX, LTBP4, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, ROBO3, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469, ADAMTS10, ADAMTSL2, DCC, EFEMP1, GGCX, LTBP1, PIEZO2, SERPINA1, TSC1, TSC27. [N154] 유전성 근육퇴행위축질환 유전자 패널검사(NGS-Muscular dystrophy panel)ACAD9, ACADM, ACADVL, ACTA1, ACTN2, ADSS1, AGL, AGRN, ALDOA, ALG14, ALG2, ANO5, AR, ASAH1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNBP, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM2, DYNC1H1, DYSF, ECEL1, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, EXOSC3, FHL1, FKBP14, FKRP, FKTN, FLNC, FXR1, GAA, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HADHA, HADHB, HNRNPDL, HSPB1, HSPB8, IGHMBP2, INPP5K, ISCU, ITGA7, KBTBD13, KLHL40, KLHL41, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAP3K20, MATR3, MEGF10, MICU1, MSTO1, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH7, MYH8, MYL1, MYMK, MYO18B, MYO9A, MYOT, MYPN, NEB, ORAI1, PAX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PLEC, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PYGM, PYROXD1, RAPSN, RBCK1, RRM2B, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC18A3, SLC22A5, SLC25A1, SLC25A4, SLC52A2, SLC52A3, SLC5A7, SMN1, SPEG, SPG11, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, SYNE2, SYT2, TCAP, TIA1, TK2, TNNI2, TNNT1, TNNT3, TNPO3, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TSEN54, TSFM, TTN, TYMP, UBA1, VAMP1, VCP, VMA21, VRK1, ALS2, ASCC3, ATP7A, CASQ1, CAVIN1, CNTN1, COL4A1, DHX16, DPM1, DPM3, EXOSC8, FDX2, GFER, GGPS1, GIPC1, GOLGA2, HACD1, HNRNPA2B1, JAG2, KY, LRIF1, MTMR14, MYBPC3, MYF5, MYL2, MYOD1, NEFL, POGLUT1, POPDC3, PPA2, REEP1, SETX, SLC25A42, SMCHD1, SVIL, TANGO2, TNNC2, TOR1AIP1, TRDN, UNC45B, VAPB8. [N155] 유전성 근육병증 유전자 패널검사(NGS-Myopathy panel)ACTA1, ACTN2, ADSS1, BIN1, CACNA1S, CCDC78, CFL2, COL12A1, COL6A1, COL6A2, COL6A3, DNM2, DOK7, ECEL1, EPG5, FKBP14, FXR1, KBTBD13, KLHL40, KLHL41, LMNA, LMOD3, MAP3K20, MEGF10, MICU1, MTM1, MYBPC1, MYH2, MYH3, MYH7, MYH8, MYL1, MYMK, MYO18B, MYPN, NEB, ORAI1, PAX7, PIEZO2, PYROXD1, RYR1, RYR3, SCN4A, SELENON, SLC25A4, SPEG, STAC3, STIM1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRIP4, TTN, VMA21, ASCC3, CASQ1, CHRNE, CNTN1, DHX16, FLNC, GAA, GFER, HACD1, HNRNPA2B1, KY, LAMP2, MTMR14, MYBPC3, MYF5, MYL2, MYOD1, NEFL, PFKM, PPA2, PYGM, RAPSN, SLC25A42, SVIL, TNNC2, TRDN, UNC45B9. [N165] 샤르코 마리 투스병 유전자 패널검사(NGS-Charcot-Marie-Tooth disease panel)GJB1, MFN2, MPZ, PMP22+AARS1, ABCA1, ABHD12, AGTPBP1, AIFM1, APTX, ARSA, ATL1, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CD59, CHCHD10, CNTNAP1, COA7, COX6A1, CPOX, CTDP1, CYP27A1, DARS2, DCTN1, DEGS1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, FAH, FAM126A, FBLN5, FGD4, FIG4, FLVCR1, FXN, GALC, GAN, GARS1, GBA2, GDAP1, GJC2, GLA, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HSPB1, HSPB8, IARS2, IGHMBP2, INF2, KCNA2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, LYST, MCM3AP, MMACHC, MME, MORC2, MPV17, MTMR2, MTRFR, MTTP, NAGA, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, OPA3, PDHA1, PEX10, PEX7, PHYH, PLEKHG5, PMM2, PMP2, PNKP, POLG, POLR3A, PPOX, PRDM12, PRNP, PRPS1, PRX, PTPN11, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SOX10, SPAST, SPG11, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TFG, TRIM2, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, VPS13A, VRK1, WARS1, WNK1, XK, XPA, YARS1, ZFYVE26, ABCD1, AGXT, AP1S1, APOA1, ARHGEF10, ATL3, C1orf94, DNAJC3, DRP2, ETFDH, FBXO38, JAG1, MYH14, PDYN, PLP1, PNPLA6, PRKCG, PTEN, PTRH2, SCARB2, SCYL1, SORD, SPG7, SUCLA2, TWNK, VCP, VWA1, XRCC110. [N156] 유전성 운동실조증 유전자 패널검사(NGS-Ataxia panel)AAAS, ABCB7, ABHD12, AFG3L2, AMPD2, ANO10, AP1S2, APTX, ARSA, ATCAY, ATM, ATP1A3, CA8, CACNA1A, CACNA1G, CACNA2D2, CAMTA1, CASK, CHMP1A, CLCN2, CLN6, CLP1, COQ8A, COX20, CP, CWF19L1, CYP27A1, CYP2U1, DARS2, DDHD2, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, EXOSC3, FGF14, FLVCR1, FMR1, FOLR1, FXN, GBA2, GFAP, GJC2, GOSR2, GPAA1, GRID2, GRM1, HEXA, HEXB, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, MARS2, MMACHC, MRE11, MTTP, NHLRC1, NKX6-2, NPC1, NPC2, OPA3, OPHN1, PAX6, PDYN, PEX16, PLA2G6, PMPCA, PNKP, PNPLA6, POLG, POLR3A, PRKCG, PRNP, PRRT2, RARS2, RNF170, RNF216, SACS, SCN8A, SEPSECS, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SNX14, SPG7, SPTBN2, SRD5A3, STUB1, SYNE1, TGM6, TMEM240, TPP1, TSEN2, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, TWNK, UCHL1, VLDLR, VPS13D, VRK1, WDR73, WDR81, WFS1, WWOX, XRCC1, COG5, DMXL2, EEF2, MVK, NUS1, PEX7, POLR3K, SAR1B, SLC52A2, VAMP111. [N157] 유전성 강직성 하반신마비 유전자 패널검사(NGS-Hereditary spastic paraplegia panel)ABCD1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, ARG1, ATL1, ATP13A2, B4GALNT1, BSCL2, C19orf12, CAPN1, CYP27A1, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN1, ERLIN2, FA2H, FARS2, GBA2, HACE1, HIKESHI, HSPD1, KIDINS220, KIF1A, KIF5A, L1CAM, MTRFR, NIPA1, NKX6-2, NT5C2, OPA3, PCYT2, PLP1, PNPLA6, POLR3A, REEP1, RNASEH2B, RTN2, SACS, SERAC1, SLC16A2, SLC1A4, SLC25A46, SLC2A1, SPART, SPAST, SPG11, SPG21, SPG7, TFG, TUBB4A, UBAP1, WASHC5, WDR45B, ZFYVE26, ARSA, CDK16, DARS1, EIF2B5, GCH1, IBA57, KDM5C, KIF1C, LYST, MAG, MARS2, MTPAP, POLR3K, REEP2, SARS2, SLC33A1, SOD112. [N158] 유전성 성분화이상 유전자 패널검사(NGS-Disorders of sexual development panel)AMH, AMHR2, AR, ARX, ATRX, CDKN1C, CHD7, CUL4B, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DHCR7, DHH, HSD17B3, HSD3B2, LHCGR, MAMLD1, MAP3K1, NR0B1, NR5A1, POR, RPL10, RSPO1, SAMD9, SGPL1, SOX10, SOX9, SRD5A2, SRY, STAR, TOE1, WT1, ANOS1, BBS1, BBS10, CTU2, DHX37, ESR2, FGF8, FGFR1, FGFR2, GATA4, GNRH1, GNRHR, HOXA13, KISS1R, MYRF, NR2F2, NR3C1, PAX8, PBX1, PPP1R12A, PROK2, PROKR2, PROP1, TAC3, TACR3, TCF12, TSPYL1, ZFPM213. [N159] 라이소좀 축적 질환 유전자 패널검사(NGS-Lysosomal storage disease panel)AGA, ARSA, ARSB, ASAH1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNE, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1, ABCD1, AGL, ALDOB, ARSG, ATP13A2, CTSF, G6PC1, GALE, GALK1, GALK2, GALT, GBE1, HPRT1, PEX1, PEX10, PHKA2, PYGL, PYGM, SLC37A4, VPS16, VPS33A14. [N160] 선천성 대사이상 유전자 패널검사(NGS-Inborn error of metabolism panel)AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACY1, ADA, ADAR, ADSL, AFG3L2, AGA, AGK, AGL, AGPS, AGXT, AHCY, AIFM1, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, ALPL, AMACR, AMN, AMT, ANO10, APOA1, APOA5, APOB, APOC2, APOE, APRT, APTX, ARG1, ARSA, ARSB, ARSL, ASAH1, ASL, ASPA, ASS1, ATAD3A, ATIC, ATP13A2, ATP6AP1, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, BAAT, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA3, BTD, C19orf12, CA5A, CAT, CBLIF, CBS, CCDC115, CHCHD10, CHKB, CHST14, CHST3, CHST6, CHSY1, CISD2, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNNM2, COA8, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CPOX, CPS1, CPT1A, CPT2, CRPPA, CTH, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CYC1, CYP27A1, CYP7B1, D2HGDH, DARS1, DARS2, DBH, DBT, DCXR, DDC, DGUOK, DHCR24, DHCR7, DHFR, DHODH, DHTKD1, DLAT, DLD, DNA2, DNAJC12, DNAJC19, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, EARS2, EBP, ECHS1, ELAC2, ENO3, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, FA2H, FAH, FAR1, FARS2, FASTKD2, FBP1, FBXL4, FDX2, FECH, FGFR2, FH, FKRP, FKTN, FMO3, FOLR1, FOXRED1, FTCD, FUCA1, FUT8, FXN, G6PC1, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GARS1, GATM, GBA, GBE1, GCDH, GCH1, GCLC, GDAP1, GFER, GFM1, GFPT1, GK, GLA, GLB1, GLDC, GLRA1, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GPD1, GPHN, GRHPR, GSS, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAMP, HARS2, HCCS, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HPD, HPRT1, HPS1, HS2ST1, HSD17B10, HSD17B4, HSD3B7, HSPD1, HTRA2, HYAL1, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, ISCA2, ISCU, ITPA, IVD, KARS1, KYNU, L2HGDH, LAMP2, LARGE1, LARS1, LARS2, LBR, LCAT, LCT, LDHA, LDLR, LDLRAP1, LIAS, LIPA, LIPT1, LMBRD1, LONP1, LPIN1, LPL, LRPPRC, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MFF, MFN2, MFSD8, MGAT2, MGME1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MRPL3, MRPS22, MSMO1, MTFMT, MTHFR, MTO1, MTPAP, MTR, MTRFR, MTRR, MTTP, MVK, NAGA, NAGLU, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NFU1, NGLY1, NHLRC1, NNT, NPC1, NPC2, NSDHL, NT5C3A, NUBPL, OAT, OCRL, OPA1, OPA3, OTC, OXCT1, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PCK1, PCSK9, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PINK1, PLA2G6, PMM2, PMPCA, PNP, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMGNT2, POMT1, POMT2, POR, PPA2, PPOX, PPT1, PRKAG2, PRODH, PRPS1, PSAP, PSAT1, PTS, PUS1, PYCR1, PYGL, PYGM, QDPR, RARS2, RBCK1, RBP4, RFT1, RMND1, RNASEH1, RPIA, RPL10, RRM2B, RXYLT1, SACS, SAMHD1, SAR1B, SARS2, SC5D, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SERAC1, SETX, SGSH, SI, SKIV2L, SLC12A3, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC6A19, SLC6A20, SLC6A3, SLC6A8, SLC7A7, SLC7A9, SMPD1, SPG7, SPR, SPTLC1, SPTLC2, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STS, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, TACO1, TAFAZZIN, TALDO1, TANGO2, TAT, TCN2, TFR2, TIMM8A, TK2, TMEM165, TMEM70, TPK1, TPP1, TRAP1, TREX1, TRIM37, TRMU, TRNT1, TRPM6, TSFM, TTC19, TTC37, TTPA, TUFM, TUSC3, TWNK, TYMP, UGT1A1, UMOD, UMPS, UQCRB, UROD, UROS, VARS2, VIPAS39, VKORC1, VPS33B, WDR45, WFS1, XDH, XYLT1, XYLT2, YARS2, ALG13, ATP5F1A, ATP5F1E, COX4I2, CSTB, DHDDS, GLS, HSPA9, LIPC, MRPS16, NDUFA12, NDUFB9, NDUFC2, OPLAH, PDK3, PIGM, PSPH, RANBP2, RNASET2, RYR1, SDHAF2, SDHC, STAT2, TH, UQCRQ, UROC115. [N161] 누난증후군 유전자 패널검사(NGS-Rasopathies panel)BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2, SPRED1, RASA2, RRAS16. [N162] 유전성 갑상선기능저하증 유전자 패널검사(NGS-Hypothyroidism panel)DUOX2, DUOXA2, FOXE1, GLIS3, GNAS, HESX1, IGSF1, IRS4, IYD, LHX3, LHX4, NKX2-1, OTX2, PAX8, POU1F1, PRKAR1A, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC26A7, SLC5A5, TBL1X, TG, THRA, THRB, TPO, TRHR, TSHB, TSHR, CDCA8, NKX2-5, TRH, TUBB117. [N163] 유전성 혈액응고장애 유전자 패널검사(NGS-Coagulation panel)ABCG5, ABCG8, ACTB, ACTN1, ACVRL1, ADAMTS13, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S6, CDC42, CHST14, COL1A1, COL5A1, COL5A2, CYCS, DIAPH1, DTNBP1, ENG, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FYB1, GATA1, GBA, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, IKZF5, ITGA2B, ITGB3, KDSR, KLKB1, KNG1, LMAN1, LYST, MCFD2, MECOM, MPIG6B, MPL, MYH9, NBEA, NBEAL2, P2RY12, PLA2G4A, PLAT, PLAU, PLG, PROC, PROS1, PTPN11, RASGRP2, RBM8A, RNU4ATAC, RUNX1, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SLC45A2, SLFN14, SMAD4, SRC, STIM1, STXBP2, TBXA2R, TBXAS1, THBD, THPO, TUBB1, VIPAS39, VKORC1, VPS33B, VWF, WAS, LAT, ORAI1, PTPRJ, SLC35A1, TPM418. [N164] 유전성 뇌전증 유전자 패널검사(NGS-Epilepsy panel)AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADGRG1, ADPRS, ADSL, AFF3, AIMP1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG13, ALG3, ALG6, ALG8, ALG9, ALPL, AMPD2, AMT, AP2M1, AP3B2, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARV1, ARX, ASAH1, ASPA, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP6V0A2, ATP6V1A, ATP7A, ATRX, BCKDHA, BCKDHB, BCS1L, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12orf57, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA2D2, CAD, CASK, CC2D2A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN4, CLN3, CLN8, CLTC, CNKSR2, CNNM2, CNPY3, CNTNAP2, COG7, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ9, CPA6, CREBBP, CSNK2B, CSTB, CTNNA2, CTSD, CUL4B, CUX2, CYFIP2, D2HGDH, DBT, DCX, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHDDS, DHPS, DHX30, DIAPH1, DNM1, DNM1L, DOCK7, DPAGT1, DPM1, DPYD, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EML1, EPG5, EPM2A, ETHE1, EXOSC3, FARS2, FBXL4, FBXO11, FGF12, FKTN, FLNA, FOLR1, FOXG1, FRRS1L, FUCA1, FUT8, GABBR2, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRG2, GALC, GAMT, GBA, GFAP, GLB1, GLDC, GLUD1, GLUL, GM2A, GNAO1, GNAQ, GNB1, GNB5, GOSR2, GOT2, GPAA1, GPHN, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, GTPBP2, HACE1, HAX1, HCFC1, HCN1, HCN2, HECW2, HEPACAM, HEXA, HEXB, HMGCL, HNRNPH2, HNRNPR, HNRNPU, HRAS, HSD17B4, HTRA2, IER3IP1, IFIH1, IKBKG, IQSEC2, IRF2BPL, ITPA, KARS1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KIAA1109, KIF1A, KIF2A, KIF5C, KMT2E, KRAS, LGI1, LIAS, MACF1, MAF, MAGI2, MAP2K1, MAP2K2, MBD5, MBOAT7, MDH2, MECP2, MED12, MEF2C, MFF, MFSD8, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MTHFR, MTOR, NACC1, NAGA, NARS2, NBEA, NDE1, NDUFA1, NDUFA10, NDUFAF2, NDUFAF5, NDUFS4, NDUFS8, NDUFV1, NEXMIF, NGLY1, NHLRC1, NPRL2, NPRL3, NRXN1, NSD1, NSDHL, NTRK2, NUS1, OCLN, OPHN1, OTUD6B, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PARS2, PCCA, PCCB, PCDH12, PCDH19, PDHA1, PDHX, PET100, PHACTR1, PHGDH, PIGA, PIGB, PIGC, PIGG, PIGH, PIGN, PIGO, PIGQ, PIGT, PIGU, PIGW, PIK3R2, PLAA, PLCB1, PLPBP, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, PPP2CA, PPP3CA, PPT1, PRICKLE1, PRMT7, PRRT2, PSAP, PTPN23, PTS, PURA, QARS1, RAB11B, RAB18, RALA, RARS2, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RORA, RORB, RTN4IP1, RTTN, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SEPSECS, SETBP1, SGSH, SIK1, SLC12A5, SLC13A5, SLC16A2, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNAP25, SNORD118, SPATA5, SPTAN1, ST3GAL5, STAG1, STAMBP, STRADA, STX1B, STXBP1, SUCLA2, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TANGO2, TBC1D24, TBCD, TBCK, TBL1XR1, TCF4, TDP2, TPP1, TRAK1, TREX1, TRIM8, TRPM6, TSC1, TSC2, TSEN54, TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, UBA5, UBE2A, UBE3A, UFM1, UNC80, VAMP2, VARS1, VPS11, WARS2, WASF1, WDR37, WDR45, WDR73, WWOX, YWHAG, ZBTB18, ZDHHC9, ZEB2, ZNF142, ABCA2, ADAM22, ADARB1, ADAT3, AIMP2, ALG14, ALKBH8, ANKRD11, APC2, ASNS, ATP5F1A, ATP6AP2, CACNA1H, CACNB4, CARS2, CCDC88A, CCDC88C, CDC42BPB, CDK19, CELF2, CEP85L, CERS1, CLN6, CLPB, COG4, COG6, COG8, COQ6, COX10, COX15, CPLX1, CRPPA, CTSF, CTU2, CUL3, CYP27A1, DDC, DHCR24, DHCR7, DHX16, DLL1, DMXL2, DNAJC5, DNAJC6, DOLK, DPM2, EFHC1, EIF2AK2, EMC10, EMX2, EXOC7, EXT2, FAM50A, FAR1, FASTKD2, FBXO28, FCSK, FDFT1, FGF13, FGFR3, FH, FKRP, FOXRED1, GABRB1, GAD1, GALNT2, GCH1, GFM1, GLI3, GLRA1, GLS, GLYCTK, GRIA2, GRM7, GRN, GSS, GTPBP3, GUF1, H3-3A, H3-3B, HCCS, HEATR5B, HERC2, HLCS, HOXA1, HPDL, HPRT1, HSPD1, KAT5, KAT8, KATNB1, KCNA1, KCNH1, KIFBP, KPTN, LARGE1, LARS1, LIPT1, LIPT2, LMAN2L, LMBRD2, LMNB1, LNPK, LSS, LYST, MADD, MANBA, MAST1, MED17, MED27, MINPP1, MTHFS, MTR, NARS1, NCDN, NDP, NDUFA2, NDUFAF3, NDUFAF4, NDUFS1, NDUFS2, NDUFS6, NDUFS7, NECAP1, NEDD4L, NEUROD2, NR4A2, NRROS, NSF, NUBPL, NUP214, OTX2, OXR1, PCDHGC4, PCLO, PCYT2, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX19, PEX2, PEX3, PEX5, PEX6, PEX7, PIGK, PIGP, PIGS, PLA2G6, PMPCB, PNPT1, POLG2, POMT2, PPIL1, PRODH, PSAT1, PSPH, PTF1A, PUM1, QDPR, RAB3GAP1, RAB3GAP2, RALGAPA1, RALGAPB, RANBP2, RARS1, RNF113A, RNF13, RNF2, RNU4ATAC, RPIA, RRM2B, RUSC2, RYR2, SAMD12, SATB1, SATB2, SCAF4, SCAMP5, SCO1, SCO2, SDHA, SEMA6B, SERPINI1, SETD1A, SETD1B, SETD5, SIX3, SLC35A1, SLC35A3, SLC39A8, SLC45A1, SLC5A6, SNIP1, SNX27, SPR, SPTBN1, SPTBN4, ST3GAL3, STARD7, SUCLG1, TANC2, TBC1D20, TBC1D2B, TELO2, TET3, TFE3, TIMM50, TMEM106B, TMEM222, TMEM70, TMX2, TNK2, TRAF7, TRAPPC12, TRAPPC4, TRAPPC6B, TRIP13, TRPM3, TRRAP, TSEN15, TSEN2, TSEN34, TSFM, TUBA8, TUBB, TUBGCP2, TXNRD1, UBR7, UFC1, UFSP2, UGDH, UGP2, USP18, USP7, VLDLR, WDR45B, WDR62, YIF1B, YIPF5, ZMIZ1, ZNF33519. [N279] 유전성 일차성 면역결핍증 유전자 패널검사(NGS-Primary immune deficiency panel)ACD, ACP5, ADA, ADA2, ADAR, AICDA, AIRE, AK2, AP3B1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CD19, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CDCA7, CEBPE, CFD, CFH, CFI, CFP, CHD7, CIITA, CLPB, COPA, CORO1A, CSF2RA, CSF2RB, CSF3R, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1B, DCLRE1C, DKC1, DNAJC21, DNASE2, DNMT3B, DOCK2, DOCK8, ELANE, EPG5, ERCC6L2, EXTL3, F12, FADD, FAS, FASLG, FAT4, FERMT3, FOXN1, FOXP3, G6PC3, G6PD, GATA1, GATA2, GFI1, GINS1, HAX1, HELLS, HPS1, HPS4, HPS6, HTRA2, ICOS, IFIH1, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL17RC, IL1RN, IL21R, IL2RA, IL2RG, IL36RN, IL7R, INO80, IRAK4, IRF8, ISG15, ITCH, ITGB2, ITK, JAGN1, JAK3, LAMTOR2, LAT, LCK, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MCM4, MEFV, MOGS, MSN, MTHFD1, MVK, MYD88, MYO5B, MYSM1, NBN, NCF1, NCF2, NCF4, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP12, NLRP3, NOD2, NSMCE3, ORAI1, OTULIN, PARN, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PNP, POLA1, POMP, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAG1, RAG2, RASGRP1, RBCK1, RFX5, RFXANK, RFXAP, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RORC, RPSA, RTEL1, SAMHD1, SBDS, SERPING1, SGPL1, SH2D1A, SKIV2L, SLC29A3, SLC35C1, SLC37A4, SLC46A1, SMARCAL1, SP110, SPINK5, SPPL2A, STAT1, STAT2, STAT3, STAT5B, STIM1, STING1, STK4, STX11, STXBP2, TAFAZZIN, TAP1, TAP2, TBK1, TCF3, TCN2, TICAM1, TLR3, TMC6, TMC8, TNFAIP3, TNFRSF1A, TPP2, TRAC, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNC93B1, UNG, USB1, VPS13B, VPS45, WAS, WIPF1, XIAP, ZAP70, ZBTB24, ADAM17, ALPI, AP1S3, AP3D1, BCL10, BCL11B, BLOC1S6, CD247, CD4, CD81, CD8A, CDC42, CFB, CFHR1, CFHR3, CFHR4, CFHR5, CFTR, CIB1, COL7A1, CR2, CTC1, CXCR2, CYBC1, DBR1, DEF6, DNASE1L3, EFL1, ERBIN, FCGR3A, FCHO1, FNIP1, FPR1, GIMAP5, GUCY2C, HAVCR2, IFNAR1, IGKC, IL17F, IL21, IL2RB, IL6R, IL6ST, IPO8, IRF3, IRF7, IRF9, ITPKB, IVNS1ABP, KRAS, LIG1, MBL2, MPEG1, MPO, MRTFA, NCKAP1L, NCSTN, NFE2L2, NLRP1, NOP10, NPC1, NRAS, OAS1, PAX1, PIK3CG, PLG, PMS2, POLD1, POLE, POLR3A, POLR3C, PRIM1, PSENEN, PSMA3, PSMB10, PSMB4, PSMB9, PTEN, PTPN2, RAC2, RC3H1, RECQL4, RELA, RHOH, RNF31, RNU7-1, SAMD9, SAMD9L, SASH3, SEC61A1, SLC39A7, SLC7A7, SLC9A3, SMARCD2, SNORA31, SOCS1, SPI1, SRP54, STXBP3, SYK, TAPBP, TBX1, TERC, TERT, TET2, TFRC, TGFB1, TINF2, TLR7, TNFRSF11A, TNFRSF13C, TNFRSF9, TOP2B, TRAF3IP2, TRIM22, USP18, WDR1, ZNF341, ZNFX120. [N515] 유전성 망막색소변성 유전자 패널검사(NGS-Retinitis pigmentosa panel)PRPF31, RHO, RP1, RP2, USH2A, PRPH2, RPGR+ABCA4, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, AGBL5, AHI1, AIPL1, AIRE, ALMS1, ARHGEF18, ARL2BP, ARL6, ATF6, ATOH7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP78, CERKL, CFAP410, CFAP418, CFH, CHM, CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL18A1, COL4A1, CRB1, CRX, CSPP1, CTNNB1, CTSD, CWC27, CYP4V2, DHDDS, EFEMP1, ELOVL4, ERCC6, ERCC8, EYS, FAM161A, FLVCR1, FZD4, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS1, HCCS, HGSNAT, HMX1, IDH3A, IDH3B, IFT140, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KCNJ13, KCNV2, KIAA1549, KIF11, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MERTK, MFRP, MFSD8, MKKS, MKS1, MYO7A, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPN1LW, OPN1MW, OTX2, PANK2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PEX1, PEX2, PEX7, PHYH, PLA2G5, POC1B, PPT1, PRCD, PROM1, PRPF3, PRPF4, PRPF6, PRPF8, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, REEP6, RGS9, RLBP1, RP1L1, RP9, RPE65, RPGRIP1, RPGRIP1L, RS1, SAG, SCAPER, SDCCAG8, SLC24A1, SLC38A8, SNRNP200, SPATA7, SRD5A3, TIMM8A, TIMP3, TMEM237, TOPORS, TPP1, TRIM32, TRPM1, TSPAN12, TTC8, TTLL5, TUB, TULP1, USH1C, USH1G, VCAN, VPS13B, WDPCP, WDR19, WHRN, ZNF408, ZNF423, ABCC6, ACBD5, ADIPOR1, AFG3L2, AHR, ALPK1, AMACR, ARL13B, ARL3, ARSG, ASRGL1, ATXN7, CA4, CCT2, CEP19, CEP250, CLCC1, CLUAP1, CTC1, CTNNA1, CYP2R1, DHX38, DMD, DRAM2, ELOVL1, ESPN, EXOSC2, GDF6, GNB3, GRN, HK1, IFT172, IFT27, IFT74, IFT81, JAG1, KIF3B, LAMA1, LIG3, MAPKAPK3, MIR204, MMACHC, MSTO1, MTRFR, MTTP, MVK, NBAS, NEUROD1, OPN1SW, P3H2, PAX2, PDE6H, PEX6, PGK1, PLK4, PNPLA6, POC5, POMGNT1, PRDM13, RDH11, RGR, RIMS2, ROM1, RTN4IP1, SAMD11, SEMA4A, SLC25A46, SLC37A3, SLC6A6, SPP2, SSBP1, TINF2, TLCD3B, TMEM216, TMEM231, TRAF3IP1, TREX1, TRNT1, TTPA, TUBB4B, TUBGCP4, TUBGCP6, UNC119, USP45, ZFYVE2621. [N517] 유전성 난청 유전자 패널검사(NGS-Hearing loss panel)GJB2, POU3F4, SLC26A4, TECTA+ABHD12, ACTG1, ADGRV1, ALMS1, ATP6V1B1, BCS1L, BSND, CABP2, CCDC50, CDH23, CEACAM16, CEP78, CHD7, CIB2, CLDN14, CLPP, CLRN1, COCH, COL11A2, COL4A5, COL4A6, DIAPH1, DNMT1, DSPP, EDN3, EDNRB, EPS8, ESPN, ESRRB, EYA1, EYA4, FGF3, GATA3, GIPC3, GJB3, GPSM2, GRHL2, GRXCR1, GSDME, HAAO, HOXA2, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, LARS2, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MASP1, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX2, PAX3, PCDH15, PDZD7, PJVK, PNPT1, POU4F3, PRPS1, PTPRQ, RDX, S1PR2, SALL1, SALL4, SERAC1, SERPINB6, SGPL1, SIX1, SLC17A8, SLC26A5, SLC4A11, SMPX, SNAI2, SOX10, SOX2, SPATA5, STRC, SYNE4, TBC1D24, TIMM8A, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, WHRN, ABCC1, AIFM1, AP1S1, ATP2B2, ATP6V1B2, CDC14A, CEP250, CISD2, CLIC5, CLRN2, COG4, COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, DIABLO, DIAPH3, DMXL2, ELMOD3, EPS8L2, ESRP1, FDXR, FOXF2, FOXI1, GJB6, GREB1L, HARS2, HGF, HOMER2, KDM3B, KITLG, LMX1A, MET, MIR96, MN1, MORC2, MPZL2, NARS2, PDSS1, PLS1, PMP22, PPIP5K2, RIPOR2, ROR1, SLC12A2, SLC52A2, SLC52A3, SLITRK6, SPATC1L, SPNS2, SPTBN4, STXBP3, THOC1, TMTC2, TNC, TOP2B, WBP2, YARS122. [N516] 유전성 안질환 유전자 패널검사(NGS-Hereditary retinopathy panel)ABCB6, ACTB, ACTG1, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ALDH1A3, ATOH7, B3GALNT2, B3GLCT, BCOR, BEST1, BMP4, C12orf57, CBS, CC2D2A, CEP290, CHD7, CHRDL1, CLDN19, COL18A1, COL4A1, CPAMD8, CRPPA, CRYAA, CRYGC, CYP1B1, DDX58, DOCK6, ESCO2, FAT1, FBN1, FKTN, FOXC1, FOXD3, FOXE3, FRAS1, FREM1, FREM2, GDF6, GJA1, GJA8, GRIP1, HCCS, HMX1, INPP5E, KIAA1109, KMT2D, LAMB2, LRP2, LRP5, LTBP2, MAB21L2, MAF, MAPRE2, MFRP, MITF, MYOC, MYRF, NAA10, NDP, NHS, OTX2, PAX2, PAX6, PIGL, PITX2, PITX3, POMGNT1, POMT1, POMT2, PORCN, PRR12, PRSS56, PTCH1, PUF60, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RERE, RIPK4, RPGRIP1L, SALL1, SALL4, SBF2, SH3PXD2B, SHH, SIX6, SLC38A8, SLC4A4, SMCHD1, SMO, SMOC1, SOX2, SRD5A3, STRA6, TBC1D20, TENM3, TFAP2A, TMEM216, TMEM237, TMEM67, TMEM98, TUBGCP4, VSX2, YAP1, ZEB2, AIPL1, ALX1, B3GALT1, BMP7, BMPR1A, CAPN15, CDH2, CDK5RAP2, CDON, CENPF, CNNM4, COL2A1, COL6A3, COX7B, CRB1, CREBBP, CRIM1, CRYBA4, CRYBB1, CRYBB2, CRYGD, DAG1, DYRK1A, EFTUD2, ERCC1, FANCL, FKRP, FZD4, FZD5, GDF3, GLI2, HMGB3, IFIH1, IGBP1, IPO13, KDM6A, KERA, KIAA0586, KIF11, LMX1B, MIR204, NMNAT1, NUP188, OCRL, OFD1, OLFM2, PDE6D, PLK4, POMGNT2, PQBP1, RHOA, SALL2, SCLT1, SIX3, SLC16A12, SLC25A24, SLC2A1, SMAD4, SMG9, TBC1D32, TCOF1, TEK, TMX3, TOGARAM1, TUBB, VAX1, VPS35L, VSX1, WDR37, WNT2B, WRAP73, ZIC223. [N361] 유전성 저성선자극호르몬 성선 저하증 유전자 패널검사(NGS-Hypogonadotropic hypogonadism panel)AMMECR1, ANKRD11, BLM, BRAF, BTK, CBL, CCDC8, CDC6, CDKN1C, CDT1, CENPJ, CHD7, CREBBP, CRIPT, CUL7, DHCR7, EP300, ERCC6, ERCC8, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FGD1, FGF8, FGFR1, FOXA2, GH1, GHR, GHRHR, GHSR, GLI2, GLI3, GNRHR, HDAC8, HESX1, HRAS, IGF1, IGF1R, IGFALS, IGSF1, INSR, KDM6A, KMT2D, KRAS, LHX3, LHX4, LIG4, MAP2K1, MAP2K2, NBN, NIPBL, NRAS, OBSL1, ORC1, ORC4, ORC6, OTX2, PAPPA2, PCNT, PIK3R1, PITX2, PNPLA6, POU1F1, PROKR2, PROP1, PTPN11, RAD21, RAF1, RBBP8, RIT1, RNU4ATAC, ROR2, RPL10, RPS6KA3, SAMD9, SHOC2, SHOX, SMC1A, SMC3, SOS1, SOX2, SOX3, SRCAP, STAT5B, TBCE, TBX19, TRIM37, WRN, XRCC4, ZFP57, ANOS1, ARCN1, BBS1, BBS10, BBS12, BBS2, BBS9, CDON, FSHB, GNRH1, HS6ST1, IL17RD, KANSL1, KCNQ1, KISS1, KISS1R, LHB, MKKS, NR0B1, NSMF, PROK2, RNPC3, SEMA3A, SHH, SPRY4, TAC3, TACR3, TCF7L124. [N862] 알츠하이머병 유전자 패널검사(NGS-Alzheimer's disease panel)APP, CHMP2B, CSF1R, DNAJC5, DNMT1, EPM2A, GRN, ITM2B, MAPT, NHLRC1, NOTCH3, PRNP, PSEN1, PSEN2, TARDBP, TBK1, TYROBP, UBQLN2, VCP, ABCA7, SORL1, TUBA4A25. [N863] 연소자 성인발증형 당뇨 유전자 패널검사(NGS-Maturity-Onset Diabetes of the Young, MODY panel)ABCC8, AKT2, APPL1, CEL, CISD2, DCAF17, DNAJC3, DYRK1B, GATA4, GATA6, GCK, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, LMNA, NEUROD1, PAX6, PCBD1, PDX1, PIK3R1, PLIN1, POLD1, PPARG, PPP1R15B, RFX6, SLC29A3, TRMT10A, WFS1, ZBTB20, ZFP57, ZMPSTE24, AGPAT2, ALMS1, BLK, BLM, BSCL2, CAVIN1, DMXL2, EIF2AK3, ENPP1, FGFR3, FOXC2, FOXP3, GLIS3, HAMP, HFE, HJV, IER3IP1, IL2RA, KLF11, LIPC, LRBA, MNX1, NEUROG3, NKX2-2, NSMCE2, PAX4, PCNT, PCYT1A, POC1A, PPP1R3A, PSMB8, PTF1A, PTPRD, SLC19A2, SLC2A2, SLC40A1, STAT1, STAT3, SYT9, TFR2, WRN26. [N861] 유전성 근긴장이상 유전자 패널검사(NGS-Dystonia panel)ADAR, ADCY5, ANO3, APTX, ATM, ATP13A2, ATP1A3, ATP7B, BCAP31, C19orf12, CHMP2B, COASY, CP, CSTB, DCAF17, DDC, DLAT, FA2H, FBXO7, FTL, GCH1, GNAO1, HPCA, HTRA2, KMT2B, MECR, NKX6-2, PANK2, PINK1, PLA2G6, PNKD, PRKN, PRKRA, PRRT2, SERAC1, SGCE, SLC2A1, SLC30A10, SLC6A3, SPR, SYNJ1, TH, THAP1, TOR1A, TUBB4A, VAC14, VPS13A, WDR45, WDR73, XK, YY1, CACNA1B, CIZ1, COL6A3, GNAL, KCTD17, RELN, TAF127. [N865] 인지장애 유전자 패널검사(NGS-Dementia panel)APP, CHMP2B, CSF1R, DNAJC5, DNMT1, EPM2A, GRN, ITM2B, MAPT, NHLRC1, NOTCH3, PRNP, PSEN1, PSEN2, TARDBP, TBK1, TYROBP, UBQLN2, VCP, SIGMAR1, SQSTM1, TIMM8A28. [N864] 파킨슨병 유전자 패널검사(NGS-Parkinson's disease panel)ATP13A2, ATP1A3, C19orf12, CSF1R, DCTN1, DNAJC6, FBXO7, FTL, GBA, GCH1, GRN, LRRK2, LYST, MAPT, OPA3, PANK2, PARK7, PINK1, PLA2G6, PRKN, PRKRA, PTRHD1, RAB39B, SLC30A10, SLC39A14, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TH, TUBB4A, VPS13A, VPS35, WDR45, ANG, ATP7B, CHCHD2, CLN3, COASY, CP, DNAJC12, DNAJC5, EPHB4, PDE8B, PDGFB, PDGFRB, SLC20A2, TAF1, TWNK, VPS13C, XPR129. [P284] 비정형 용혈성 요독 증후군 유전자 패널검사(NGS-Atypical Hemolytic Uremic Syndrome gene panel)C3, CD46, CFB, CFH, CFHR1, CFHR3, CFI, DGKE, MMACHC, ADAMTS13, CFHR5, MMADHC, MMUT, PLG30. [P285] 알포트 증후군 유전자 패널검사(NGS-Alport Syndrome gene panel)COL4A1, COL4A3, COL4A4, COL4A5, MYH9, CD151, CFHR5, FN1, PXDN31. [P286] 콩팥 황폐증 유전자 패널검사(NGS-Nephronophthisis gene panel)ANKS6, CEP164, CEP83, GATM, HNF1B, INVS, MAPKBP1, MUC1, NPHP1, NPHP3, NPHP4, REN, TMEM67, TTC21B, UMOD, WDR19, ADAMTS9, AHI1, CC2D2A, CEP290, CEP41, CTNS, DCDC2, DNAJB11, FAN1, GLIS2, IFT172, IQCB1, OFD1, PKHD1, RPGRIP1L, SDCCAG8, SEC61A1, TCTN1, TMEM138, TMEM216, TMEM237, TRAF3IP1, WDR35, XPNPEP3, ZNF42332. [P287] 다낭성 신장질환 유전자 패널검사(NGS-Polycystic Kidney Disease gene panel)ANKS6, CEP164, CEP83, COL4A1, DNAJB11, DZIP1L, GANAB, HNF1B, INVS, MAPKBP1, NPHP1, NPHP3, NPHP4, PKD1, PKD2, PKHD1, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR19, ALG8, ALG9, CEP290, COL4A4, ETFA, FLCN, LRP5, NOTCH2, PAX2, PMM2, SEC61A133. [P288] 유전성 이상지질혈증 유전자 패널검사(NGS-Hereditary Dyslipidemia gene panel)ABCG5, ABCG8, APOA5, APOB, APOC2, APOE, CREB3L3, CYP27A1, GPD1, GPIHBP1, LDLR, LDLRAP1, LIPA, LMF1, LPL, PCSK9, ALMS1, CYP7A134. [P289] 유전성 뇌졸중 유전자 패널검사(NGS-Hereditary Stroke gene panel)ABCC6, ACTA2, ACVRL1, APP, ATP1A2, CACNA1A, CCM2, COL3A1, COL4A1, COL4A2, ENG, FOXC1, GLA, GUCY1A1, HTRA1, KRIT1, NOTCH3, PDCD10, RASA1, RNF213, SAMHD1, SLC2A10, SMAD4, TREX1, YY1AP1, ADA2, ANGPTL6, ATR, CBL, CBS, CEP152, CHD4, CNOT3, EPHB4, FLVCR2, GDF2, HBB, IRAG1, MYH11, NF1, PCNT, PKD1, PKD2, SETD5, SMAD9, THSD135. [P327] 유전성 원발성 섬모운동이상증 유전자 패널검사(NGS-Hereditary Primary Ciliary Dyskinesia)CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, GAS2L2, GAS8, HYDIN, MCIDAS, ODAD1, ODAD2, ODAD3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10, ATXN10, DNAH9, LZTFL1, NEK10, SPEF2, TTC1236. [P325] 유전성 소두증 유전자 패널검사(NGS-Hereditary Microcephaly gene panel)ASPM, ATR, ATRX, BLM, BRCA2, BRIP1, CASK, CDK5RAP2, CDT1, CENPF, CENPJ, CEP135, CEP152, CEP63, CIT, CKAP2L, CREBBP, CTNNB1, DDX11, DHCR7, DIAPH1, DONSON, DPP6, DYRK1A, EFTUD2, ERCC4, ERCC6, ERCC8, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, GMNN, HDAC8, IARS1, IER3IP1, IGF1, IGF1R, KIF11, KIFBP, KNL1, LARP7, LIG4, MCPH1, MFSD2A, MSMO1, MYCN, NBN, NDE1, NHEJ1, NIPBL, ORC1, ORC4, ORC6, PCNT, PDHA1, PLK4, PNKP, POC1A, PQBP1, PRUNE1, RAD21, RBBP8, RNU4ATAC, RPL10, RTTN, SLC25A19, SLC9A6, SLX4, SMC1A, SMC3, STAMBP, STIL, TOP3A, TRAIP, TRMT10A, TUBGCP4, TUBGCP6, UBA5, UFC1, UFM1, WDR62, WDR73, XRCC4, ZEB2, AARS1, ADARB1, AGMO, AKT3, ANKLE2, AP4B1, AP4E1, AP4M1, AP4S1, ARCN1, ATP1A2, ATP9A, BPTF, BRD4, BUB1B, CAMK2B, CCDC88A, CEP55, CEP57, CHAMP1, COASY, COPB1, CRIPT, CSNK2A1, CTCF, CTSF, CTU2, DNA2, DNMT3A, DPM1, DYNC1I2, EIF2S3, EIF5A, ERCC5, EXOC7, FBRSL1, FOXG1, H4C3, HPDL, KIF14, LAGE3, LMNB1, LMNB2, MCM7, MECP2, MED17, METTL5, MINPP1, MORC2, MPLKIP, MRE11, NAA20, NARS1, NCAPD2, NCAPD3, NSD2, NUF2, NUP107, NUP188, OSGEP, PAFAH1B1, PALB2, PCDH12, PDCD6IP, POGZ, POMT1, PPIL1, PPP1R15B, PRIM1, PTPN23, PUF60, PUS7, QARS1, RAD50, RAD51C, RMI1, RRP7A, SASS6, SLC1A4, SMARCA5, SMG8, SVBP, TAF13, TMX2, TP53RK, TRAPPC12, TRAPPC14, TRAPPC6B, TRAPPC9, TRIO, TRIP13, TSEN15, TSEN54, TTC5, TUBGCP2, UBE3A, UGP2, UNC80, VRK1, WDR37, WDR4, YIF1B, YIPF5, ZNF335, ZNF52637. [P324] 유전성 자폐증 유전자 패널검사(NGS-Hereditary Autism gene panel)ADNP, ANK2, ARID1B, ASH1L, ASXL3, CHD2, CHD8, CUL3, DSCAM, DYRK1A, GRIN2B, KATNAL2, KMT2A, KMT5B, MYT1L, NAA15, POGZ, PTEN, RELN, SCN2A, SETD5, SHANK3, SYNGAP1, TBR1, TRIP12, ANKRD11, BAZ2B, BCKDK, BCL11A, BRAF, CACNA1C, CACNA1D, CACNA1H, CACNA2D3, CIC, CNOT3, CNTN4, CNTNAP2, CTNND2, CUX1, DDX3X, DEAF1, DHCR7, DIP2C, ERBIN, FOXP1, GABRB3, GIGYF2, GRIA1, GRIP1, HOXA1, ILF2, INTS6, IRF2BPL, KAT2B, KDM5B, KDM6A, KMT2C, LEO1, MAGEL2, MBOAT7, MECP2, MED13, MED13L, MET, NCKAP1, NLGN3, NRXN1, NSD1, PCDH19, PHF3, PQBP1, PTCHD1, RANBP17, RIMS1, RIMS2, SCN9A, SHANK2, SLC6A1, SMARCC2, SPAST, SRCAP, SRSF11, TAOK2, TBL1XR1, TCF20, TNRC6B, TRIO, TSC1, UBN2, UPF3B, USP15, USP7, WAC, WDFY3, ZEB238. [P340] 유전성 신경퇴행성질환 유전자 패널검사(NGS-Neurodegenerative disease panel)ABCD1, AFG3L2, ALS2, ANG, ANXA11, APP, ARSA, ATP13A2, ATP1A3, ATP7B, AUH, C19orf12, CACNA1G, CCNF, CHCHD10, CHCHD2, CHMP2B, CLCN2, CLN6, COASY, CP, CSF1R, CTSF, CYP27A1, CYP7B1, DARS2, DCTN1, DNAJC5, DNAJC6, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, FBXO7, FIG4, FTL, FUS, GCH1, GFAP, GRN, HEXA, HEXB, HNRNPA1, HTRA1, ITM2B, KCNC3, KCND3, KIF5A, LRRK2, LYST, MAPT, MYORG, NHLRC1, NOTCH3, NPC1, NPC2, OPTN, PANK2, PARK7, PDGFB, PDGFRB, PFN1, PINK1, PLA2G6, PRKN, PRNP, PSEN1, PSEN2, RNF216, SETX, SLC20A2, SNCA, SOD1, SPAST, SPG11, SQSTM1, SYNJ1, TARDBP, TBK1, TMEM240, TREM2, TTC19, TYROBP, UBQLN2, VAPB, VCP, VPS13A, VPS35, WDR45, XPR1, ABCA7, AP5Z1, ARHGEF28, ATP2B3, ATP6AP2, CCDC88C, CIZ1, COQ2, DAO, DNAJB2, DNAJC13, DNAJC7, EIF4G1, ERBB4, EWSR1, GBA, GBE1, GCDH, GIGYF2, GLT8D1, HNRNPA2B1, MARS2, MATR3, NEK1, NR4A2, PRKRA, PRPH, PSAP, SIGMAR1, SLC30A10, SNCB, SORL1, SS18L1, TAF1, TUBA4A, TUBB4A, UQCRC1, VPS13C39. [P592] 미토콘드리아 유전체 패널검사(NGS-Mitochondrial DNA panel)MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-TE, MT-TF, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TP, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TG, MT-TL2, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TY, AARS2, ABAT, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ANO10, APTX, ATAD3A, ATP5F1D, ATPAF2, BCS1L, BOLA3, BTD, C1QBP, CA5A, CARS2, CHCHD10, CLPB, CLPP, COA6, COA7, COA8, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CYC1, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, DNM2, EARS2, ECHS1, ELAC2, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GARS1, GDAP1, GFER, GFM1, GFM2, GLRX5, GTPBP3, HARS2, HCCS, HIBCH, HLCS, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, ISCA1, ISCA2, ISCU, KARS1, LARS2, LIAS, LIPT1, LIPT2, LONP1, LRPPRC, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MPC1, MPV17, MRPL3, MRPL44, MRPS2, MRPS22, MRPS34, MSTO1, MTFMT, MTO1, MTPAP, MTRFR, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, OPA3, PARS2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PMPCA, PMPCB, PNPLA8, PNPT1, POLG, POLG2, PPA2, PUS1, QRSL1, RARS2, RMND1, RNASEH1, RRM2B, RTN4IP1, SACS, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC25A1, SLC25A12, SLC25A19, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAFAZZIN, TIMM50, TIMM8A, TK2, TMEM126B, TMEM70, TOP3A, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCRB, VARS2, WARS2, YARS2, ACAT2, ATP5F1A, ATP5MF, ATP5MG, ATP5MGL, ATP5PB, ATP5PD, ATPAF1, COA3, COA4, COQ5, COX11, COX16, COX17, COX18, COX19, COX6A2, COX6B2, CYCS, DCC, ERAL1, G6PC1, GATB, GATC, HPDL, IDH3A, IDH3B, LIG3, MRM2, MRPS14, MRPS16, NAXD, NDUFA12, NDUFAF7, NDUFB7, NDUFB9, NFS1, NSUN3, PITRM1, POLRMT, PTCD3, QARS1, SDHAF3, SDHAF4, SDHB, SLC25A21, SPATA5, TARS2, TFAM, TIMM22, TIMMDC1, TMEM65, TOMM70, UQCC1, UQCC3, UQCR10, UQCR11, UQCRC2, UQCRQ, XPNPEP3, YME1L140. [P593] 유전성 담즙정체증 유전자 패널검사(NGS-Cholestasis panel)ABCB11, ABCB4, ABCC2, ADK, AKR1D1, ALDOB, AMACR, ATP7B, ATP8B1, BAAT, BCS1L, CC2D2A, CFTR, CLDN1, COG7, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, FAH, GALE, GALK1, GALM, GALT, GBA, GBE1, HADHA, HNF1B, HSD3B7, INVS, JAG1, LIPA, MPI, MPV17, MVK, MYO5B, NOTCH2, NPC1, NPC2, NR1H4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, PKHD1, POLG, SERPINA1, SLC25A13, SMPD1, TALDO1, TJP2, TRMU, UGT1A1, VIPAS39, VPS33B, AP1S1, FARSB, GNAS, HAMP, HFE, HJV, IARS1, KIF12, LSR, MKS1, NBAS, NPHP3, RINT1, RPGRIP1L, TFR2, TMEM216, TMEM67, UNC45A, USP53, YARS1, ZFYVE1941. [P681] 근위축성 측삭 경화증 유전자 패널검사(NGS-Amyotrophic lateral sclerosis panel)ALS2, ANG, DCTN1, FIG4, FUS, HNRNPA1, OPTN, PFN1, SETX, SIGMAR1, SLC52A2, SLC52A3, SOD1, TARDBP, TBK1, UBQLN2, VAPB, VCP, ANXA11, CHRNA4, DAO, HNRNPA2B1, MAPT, MATR3, NEFH, NEK1, SPG11, SQSTM1, TAF15, TREM2, TUBA4A42. [P773] 유전성 빈혈 유전자 패널검사(NGS-Anemia panel)ABCB7, ADA2, ADAMTS13, AK1, ALAS2, ALDOA, AMN, ANK1, BRCA2, BRIP1, CD59, CDAN1, CDIN1, CSF3R, CTC1, CUBN, CXCR4, DHFR, DKC1, DNAJC21, ELANE, EPB41, EPB42, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, G6PC3, G6PD, GATA1, GATA2, GCLC, GFI1, GLRX5, GSS, HAX1, HBA1, HBA2, HBB, HK1, KIF23, KLF1, LPIN2, MPL, MTR, MTRR, NBN, NHP2, NT5C3A, PALB2, PFKM, PIEZO1, PKLR, PUS1, RHAG, RMRP, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RTEL1, SAMD9, SAMD9L, SBDS, SEC23B, SLC11A2, SLC19A2, SLC25A38, SLC2A1, SLC4A1, SLX4, SPTA1, SPTB, TAFAZZIN, TCN2, TERT, TF, TMPRSS6, TPI1, UBE2T, UROS, VPS45, WAS, WIPF1, XK, YARS2, ATRX, BRCA1, CBL, CEBPA, COX4I2, FLT3, GPI, HBD, HOXA11, IKZF1, KCNN4, LAT, NPM1, PGK1, RAD51C, RAP1B, RPS29, SLC46A1, TERC, TINF2, UGT1A1, WRAP5343. [P774] 유전성 염증성 장질환 유전자 패널검사(NGS-Inflammatory Bowel panel)ADA, AICDA, BTK, CD3G, CD40LG, COL7A1, CTLA4, CYBA, CYBB, DCLRE1C, DOCK8, EPCAM, FERMT1, FOXP3, G6PC3, GUCY2C, HPS1, HPS4, HPS6, ICOS, IKBKG, IL10RA, IL10RB, IL2RA, IL2RG, ITGB2, LIG4, LRBA, MEFV, MVK, NCF1, NCF2, OTULIN, PIK3CD, PTEN, RAG1, RAG2, RTEL1, SAMD9, SH2D1A, SKIV2L, SLC37A4, STAT1, STAT3, STXBP2, TGFBR1, TGFBR2, TTC37, TTC7A, WAS, XIAP, ADAM17, ANO1, BACH2, DKC1, IL10, IL21, NOD2, NPC1, PIK3R1, PLCG2, RIPK1, TRIM22, ZAP7044. [W080] 선천성 근무력증 유전자 패널(NGS-Congenital myasthenia gravis panel)AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LRP4, MUSK, MYO9A, PLEC, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SYT2, VAMP1, TOR1AIP145. [W081] 유전성 혈소판감소증 유전자 패널(NGS-Inherited thrombocytopenia panel)ABCG5, ABCG8, ACTB, ACTN1, ACVRL1, ADAMTS13, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S6, CDC42, CYCS, DIAPH1, DTNBP1, ENG, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, FLI1, FYB1, GATA1, GBA, GFI1B, GGCX, GNE, GP1BA, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, KDSR, KLKB1, KNG1, LMAN1, LYST, MCFD2, MECOM, MPL, MYH9, NBEA, NBEAL2, P2RY12, PLA2G4A, PLAU, PRKACG, RASGRP2, RBM8A, RUNX1, SERPINE1, SERPINF2, SLFN14, SRC, STIM1, STXBP2, TBXA2R, TBXAS1, THBD, THPO, TPM4, TUBB1, VIPAS39, VKORC1, VPS33B, VWF, WAS, MPIG6B, GP1BB, BLOC1S3, BLOC1S5, CHST14, COL1A1, COL3A1, COL5A1, COL5A2, EPHB2, F2R, FLNA, GALE, MRTFA, P2RX1, PTGS1, PTPN11, PTPRJ, RGS2, RNU4ATAC, SLC45A2, SMAD4, TRPM7, UNC13D, TNXB46. [W082] 선천성 호중구감소증 유전자 패널(NGS-Congenital neutropenia panel)AP3B1, CD40, CD40LG, CLPB, CSF3R, CXCR4, ELANE, G6PC3, GATA1, GATA2, GFI1, GINS1, HAX1, HTRA2, JAGN1, LAMTOR2, LYST, MSN, MTHFD1, SLC37A4, STK4, TAFAZZIN, USB1, VPS13B, VPS45, WAS, AP3D1, FNIP1, SMARCD2, SRP54, TFRC, WDR147. [W083] 유전성 골수부전증후군 유전자 패널(NGS-Inherited bone marrow failure syndrome panel)ABCB7, ACD, ADA2, ADAMTS13, AK1, ALAS2, ALDOA, AMN, ANK1, BRCA2, BRIP1, CD59, CDAN1, CDIN1, CSF3R, CTC1, CUBN, CXCR4, DHFR, DKC1, DNAJC21, EFL1, ELANE, EPB41, EPB42, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, G6PD, GATA1, GATA2, GCLC, GFI1, GSS, HAX1, HBA1, HBB, HK1, KIF23, KLF1, LPIN2, MPL, MTR, MTRR, NAF1, NBN, NHP2, NOP10, NT5C3A, PALB2, PARN, PFKM, PIEZO1, PKLR, POT1, PUS1, RAD51C, RHAG, RMRP, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL36, RPL5, RPS10, RPS15A, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RTEL1, SAMD9, SAMD9L, SBDS, SEC23B, SLC11A2, SLC19A2, SLC25A38, SLC2A1, SLC4A1, SLX4, SPTA1, SPTB, SRP54, STN1, TAFAZZIN, TCN2, TERC, TERT, TF, TINF2, TMPRSS6, TPI1, TSR2, UBE2T, UROS, VPS45, WAS, WIPF1, WRAP53, XK, XRCC2, YARS2, ATRX, BRCA1, CBL, COX4I2, FLT3, GPI, HBD, HOXA11, IKZF1, LAT, NPM1, RAP1B, SLC46A1, RPS17, HBA2, GLRX5, CEBPA48. [W084] 혈구탐식성 림프조직구증 유전자 패널(NGS-Hemophagocytic lymphohistiocytosis panel)AP3B1, CD27, CTPS1, GATA2, ITK, LYST, PRF1, RAB27A, SH2D1A, STX11, STXBP2, UNC13D, XIAP, CDC42, PIK3CG, RC3H149. [W380] 골격근 채널병증 유전자 패널검사(Skeletal muscle channelopathy panel)ADCY5, ATP1A2, ATP2A1,CACNA1A, CACNA1S, CASQ1, CLCN1, KCNA1, KCNJ18, KCNJ2, KCNJ5, MT-ATP6, MT-ATP8, PRRT2, PYGM, QDPR, RYR1, SCN4A, SLC1A3, SLC2A1, CA2, MCM3AP, SCN4A, SLC12A350. [W381] 선천성 소안구증 및 안조직 결손 유전자 패널검사(Congenital microphthalmia, coloboma panel)ABCB6, ACTB, ACTG1, ADAMTS18, ALDH1A3, ATOH7, B3GLCT, BCOR, BMP4, BMP7, C12orf57, CC2D2A, CHD7, CLDN19, COL4A1, CRYBA4, FAT1, FOXC1, FOXE3, FRAS1, FREM1, FREM2, FZD5, GDF3, GDF6, GRIP1, HCCS, HMGB3, HMX1, IGBP1, KMT2D, LRP2, MAB21L2, MAF, MFRP, MITF, MYRF, NAA10, NDP, NDUFB11, NHS, OTX2, PAX2, PAX6, PIGL, PITX2, PITX3, PLK4, PORCN, PQBP1, PRR12, PRSS56, PUF60, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RPGRIP1L, SALL4, SHH, SIX6, SMO, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, TMEM98, TMX3, TUBGCP4, VAX1, VSX1, VSX2, YAP151. [W382] 특발성 소아 신부전 유전자 패널검사(Idiopathic pediatric renal failure panel)ACE, ACTA2, ACTG2, ACTN4, AGT, AGTR1, AGXT, AHI1, ALG1, ALMS1, AMN, ANKS6, ANLN, ANOS1, APOL1, APRT, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC9, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, BNC2, BSND, C3, CBLIF, CC2D2A, CCDC28B, CD151, CD2AP, CD46, CENPF, CEP104, CEP164, CEP290, CEP41, CEP83, CFB, CFH, CFHR1, CFHR3, CFHR5, CFI, CHD7, CHRM3, CILK1, CLCN5, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, COX10, CPLANE1, CRB2, CSPP1, CTNS, CUBN, CYP11B2, DACT1, DDX59, DGKE, DHCR7, DHFR, DLC1, DLG3, DNAJB11, DSTYK, DYNC2H1, DYNC2I1, DZIP1L, EMP2, EYA1, FAN1, FAT1, FN1, FOXC1, FOXC2, FRAS1, FREM1, FREM2, GANAB, GATA3, GATM, GDNF, GLA, GLI3, GLIS2, GREM1, GRHPR, GRIP1, HAAO, HCN3, HNF1B, HOGA1, HPSE2, HYLS1, IFT122, IFT43, INF2, INPP5E, INVS, IQCB1, ITGA3, ITGA8, ITGB4, ITSN1, KANK2, KIAA0586, KIAA0753, KIF7, KIT, KYNU, LAGE3, LAMB2, LMX1B, LRIG2, LZTFL1, MAGI2, MAPKBP1, MKKS, MKS1, MMACHC, MT-TF, MTR, MTRR, MUC1, MYH11, MYH9, MYO1E, NEK8, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NUP107, NUP133, NUP85, NUP93, OCRL, OFD1, OSGEP, PAX2, PBX1, PDSS2, PKD1, PKD2, PKHD1, PLCE1, PMM2, PODXL, PRKCSH, PTPRO, REN, RET, ROBO2, RPGRIP1L, RRM2B, SALL1, SCARB2, SDCCAG8, SEC61A1, SEC63, SGPL1, SHH, SIX1, SIX5, SLC19A2, SLC19A3, SLC22A12, SLC2A9, SLC3A1, SLC7A9, SLIT2, SMARCA4, SMARCAL1, SOX17, TBC1D8B, TBX18, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS2, TNXB, TP53RK, TRAF3IP1, TRAP1, TRIM32, TRIM8, TRPC6, TSC1, TSC2, TTC21B, TTC8, TXNDC15, UMOD, UPK3A, VHL, VIPAS39, VPS33B, WDPCP, WDR19, WDR35, WDR73, WT1, XDH, XPNPEP3, ZMPSTE24, ZNF42354. [W387] 돌발성 근육긴장이상 및 운동이상증 유전자 패널검사(Paroxysmal dystonia, dyskinesia panel)ADCY5, ATAD1, ATP1A2, ATP1A3, CACNA1A, CACNB4, CSNK1D, DNMT1, FGF14, GCH1, GLRA1, GLRB, KCNA1, KCNK18, KCNMA1, KCNQ2, MOG, PDE10A, PDE2A, PDHA1, PDHX, PNKD, PRKN, PRRT2, SCN1A, SCN2A, SCN8A, SLC16A2, SLC1A3, SLC2A1, SLC6A5, VAMP255. [W388] 전신성 백색증 유전자 패널검사 (Oculocutaneous albninism panel)GPR143, HPS1, HPS3, HPS4, HPS5, LRMDA, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP156. [W389] 유전성 시신경 위축 유전자 패널검사(Hereditary optic atrophy panel)ACO2, AFG3L2, ALPK1, MTRFR, C19orf12, CISD2, DNM1L, FDXR, MECR, MFF, MFN2, MT-ATP6, MT-ND1, MT-ND4, MT-ND6, NBAS, NR2F1, OPA1, OPA3, RTN4IP1, SLC25A46, SLC52A2, SPG7, SSBP1, TMEM126A, UCHL1, WFS1, AP3B2, ATAD3A, ATG7, EPRS1, HIKESHI, HK1, ISCA2, NDUFA12, PDSS1, POLG, SLC44A1, TFG, TIMM8A---------------------------------------------유전성(유전성 암)-----------------------------------------------1. [N150] 유전성 암 유전자 패널검사Plus (NGS-Hereditary cancer syndrome panel Plus)AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EPCAM, EXT1, EXT2, FH, FLCN, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PMS2, POLD1, POLE, PTCH1, PTEN, RAD51C, RAD51D, RAD54L, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1, CDK12, CHEK1, FANCL, RAD51B, RAD50, MRE11, PPP2R2A2. [N649] 유전성 암 유전자 패널검사* (NGS-Hereditary cancer syndrome panel)AIP, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTNNA1, DICER1, EPCAM, EXT1, EXT2, FH, FLCN, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PMS2, POLD1, POLE, PTCH1, PTEN, RAD51C, RAD51D, RAD54L, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1, CDK12, CHEK1, FANCL, RAD51B, RAD50, MRE11, PPP2R2A3. [P468] 유전성 신경내분비종양 패널검사(NGS-Neuroendocrine tumor panel)CDKN1B, FH, MAX, MEN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL, ATRX, BRAF, CDKN2A, EGLN1, EGLN2, EPAS1, FGFR1, H3-3A, HRAS, IDH2, KIF1B, KMT2D, MDH2, MERTK, MET, NF1, TP53-----------------------------------------비유전성(혈액암) ---------------------------------------------------4. [N298] 급성골수성백혈병 유전자 패널검사(NGS-Acute Myeloid Leukemia panel)CEBPA, FLT3, IDH1, IDH2, JAK2, KIT, NPM1, RUNX1, TP53+ASXL1, ATRX, BCOR, BCORL1, BRAF, CALR, CBL, CBLB, CSF3R, DNMT3A, ETV6, EZH2, GATA1, GATA2, HRAS, JAK3, KDM6A (UTX), KRAS, MPL, NOTCH1, NRAS, PDGFRA, PHF6, PTPN11, RAD21, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, STAG1, STAG2, TET2, U2AF1, WT1, ZRSR2, ANKRD26, DDX41, PPM1D, STAT35. [N299] 골수형성이상,골수증식종양 유전자 패널검사(NGS-Myelodysplastic Syndromes(MDS), Myeloproliferative neoplasm(MPN) panel)ASXL1, CALR, CSF3R, DNMT3A, JAK2, MPL, RUNX1, SETBP1, SF3B1, SRSF2, TET2+ATRX, BCOR, BCORL1, BRAF, CBL, CBLB, CEBPA, ETV6, EZH2, FLT3, GATA1, GATA2, HRAS, IDH1, IDH2, JAK3, KDM6A(UTX), KIT, KRAS, NOTCH1, NPM1, NRAS, PDGFRA, PHF6, PTPN11, RAD21, SMC1A, SMC3, STAG1, STAG2, TP53, U2AF1, WT1, ZRSR2, ANKRD26, DDX41, PPM1D, STAT36. [N866] 급성림프구성 백혈병 유전자 패널검사(NGS- Acute Lymphoblastic Leukemia (ALL) panel)IKZF1, JAK2, NRAS, RB1, TP53+ABL1, BRAF, BTG1, CDKN2A, CREBBP, CRLF2, DNM2, DNMT3A, EP300, ETV6, FBXW7, FLT3, GATA3, IDH1, IDH2, IL7R, JAK1, JAK3, KDM6A, KRAS, LEF1, MAPK1, KMT2D, NF1, NOTCH1, PAX5, PHF6, PTEN, PTPN11, RUNX1, SH2B3, STAG2, TBL1XR1, TCF3, NSD2, EZH2, KMT2A, LMO1, NT5C2, SETD2, STAT3, STAT5B, WT1, TPMT, NUDT157. [N867] 악성림프종 유전자 패널검사(NGS-Lymphoma panel)BRAF, MYD88, TP53+ALK, ATM, B2M, BCL6, BIRC3, BTK, CARD11, CD79A, CD79B, CREBBP, CXCR4, EGR2, EP300, EZH2, FAS, FAT4, FBXO11, ID3, IDH2, IKBKB, IKZF1, JAK3, KLF2, MYC, NFKBIE, NOTCH1, NOTCH2, PLCG1, PLCG2, POT1, PRDM1, RHOA, RPS15, RRAGC, SF3B1, SOCS1, STAT3, STAT5B, TBL1XR1, TCF3, TET2, TNFAIP3, TNFRSF14, TP63, TRAF3, UBR5, XPO1, BCL10, BCL2, BTG2, CCND3, CD83, CDKN2A, DDX3X, ETV6, H1-4, KLHL6, KMT2D, MEF2B, NFKBIA, PIM1, SGK1, SPEN8. [P367] 다발성 골수종 유전자 패널검사(NGS-Multiple Myeloma panel)NRAS, KRAS, TP53+ATM, ATR, BRAF, CCND1, CDK4, CDK6, CRBN, CYLD, DIS3, EGR1, TENT5C, FGFR3, IDH2, IRF4, NR3C1, PSMB5, PTEN, RB1, TRAF3, XBP1, ZFHX49. [P130] 급성림프구성 백혈병 유전자 패널검사(Tissue) (NGS- Acute Lymphoblastic Leukemia (ALL) panel)IKZF1, JAK2, NRAS, RB1, TP53+ABL1, BRAF, BTG1, CDKN2A, CREBBP, CRLF2, DNM2, DNMT3A, EP300, ETV6, FBXW7, FLT3, GATA3, IDH1, IDH2, IL7R, JAK1, JAK3, KDM6A, KRAS, LEF1, MAPK1, KMT2D, NF1, NOTCH1, PAX5, PHF6, PTEN, PTPN11, RUNX1, SH2B3, STAG2, TBL1XR1, TCF3, NSD2, EZH2, KMT2A, LMO1, NT5C2, SETD2, STAT3, STAT5B, WT1, TPMT, NUDT1510. [P131] 악성림프종 유전자 패널검사(Tissue) (NGS-Lymphoma panel)BRAF, MYD88, TP53+ALK, ATM, B2M, BCL6, BIRC3, BTK, CARD11, CD79A, CD79B, CREBBP, CXCR4, EGR2, EP300, EZH2, FAS, FAT4, FBXO11, ID3, IDH2, IKBKB, IKZF1, JAK3, KLF2, MYC, NFKBIE, NOTCH1, NOTCH2, PLCG1, PLCG2, POT1, PRDM1, RHOA, RPS15, RRAGC, SF3B1, SOCS1, STAT3, STAT5B, TBL1XR1, TCF3, TET2, TNFAIP3, TNFRSF14, TP63, TRAF3, UBR5, XPO1, BCL10, BCL2, BTG2, CCND3, CD83, CDKN2A, DDX3X, ETV6, H1-4, KLHL6, KMT2D, MEF2B, NFKBIA, PIM1, SGK1, SPEN11. [P368] 다발성 골수종 유전자 패널검사(Tissue) (NGS-Multiple Myeloma panel)NRAS, KRAS, TP53+ATM, ATR, BRAF, CCND1, CDK4, CDK6, CRBN, CYLD, DIS3, EGR1, TENT5C, FGFR3, IDH2, IRF4, NR3C1, PSMB5, PTEN, RB1, TRAF3, XBP1, ZFHX4----------------------------------------비유전성(고형암)-----------------------------------------------------12. [P401] 비유전성 고형암 유전자 패널II검사(액체생검) (NGS-Solid tumor panel II, Liquid Biopsy)ALK, BRAF, EGFR, ERBB2, IDH1, IDH2, KIT, KRAS, NRAS, PDGFRA, MYC, MYCN, BRCA1, BRCA2+AKT1, APC, AR, ARAF, CCND1, CCND2, CCND3, CDK4, CDK6, CHEK2, CTNNB1, DDR2, ERBB3, ERG, ESR1, ETV1, FBXW7, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, GNA11, GNAQ, GNAS, HRAS, MAP2K1, MAP2K2, MET, MTOR, NTRK1, NTRK3, PIK3CA, PTEN, RAF1, RET, ROS1, SF3B1, SMAD4, SMO, TP5313. [P614] 비유전성 고형암 유전자 패널II검사(TMB/MSI)(RNA미포함) (NGS-Solid tumor panel II (TMB/MSI, w/o RNA))ALK, BRAF, BRCA1, BRCA2, EGFR, ERBB2, IDH1, IDH2, KIT, KRAS, MYC, MYCN, NRAS, PDGFRA+ABCB1, ABL1, ABL2, ABRAXAS1, ACVR1, ACVR1B, ACVR2A, ADAMTS12, ADAMTS2, AKT1, AKT2, AKT3, AMER1, APC, AR, ARAF, ARHGAP35, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATP1A1, ATR, ATRX, AURKA, AURKC, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BCL2, BCL2L12, BCL6, BCOR, BCR, BLM, BMP5, BMPR2, BRIP1, BTK, CACNA1D, CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD274, CD276, CD79B, CDC73, CDH1, CDH10, CDK12, CDK4, CDK6, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CHD4, CHEK1, CHEK2, CIC, CIITA, CREBBP, CSF1R, CSMD3, CTCF, CTLA4, CTNNB1, CTNND2, CUL1, CUL3, CUL4A, CUL4B, CYLD, CYP2C9, CYP2D6, CYSLTR2, DAXX, DDR1, DDR2, DDX3X, DGCR8, DICER1, DNMT3A, DOCK3, DPYD, DROSHA, DSC1, DSC3, E2F1, EIF1AX, ELF3, EMSY, ENO1, EP300, EPAS1, EPCAM, EPHA2, ERAP1, ERAP2, ERBB3, ERBB4, ERCC2, ERCC4, ERCC5, ERRFI1, ESR1, ETV6, EZH2, FAM135B, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FAT1, FBXW7, FGF19, FGF23, FGF3, FGF4, FGF7, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, FLT4, FOXA1, FOXL2, FOXO1, FUBP1, FYN, GATA2, GATA3, GLI1, GLI3, GNA11, GNA13, GNAQ, GNAS, GPS2, H3F3A, H3F3B, HDAC2, HDAC9, HIF1A, HIST1H2BD, HIST1H3B, HLA-A, HLA-B, HNF1A, HRAS, ID3, IGF1R, IKBKB, IL6ST, IL7R, INPP4B, IRF4, IRS4, JAK1, JAK2, JAK3, KDM5C, KDM6A, KDR, KEAP1, KLF4, KLF5, KLHL13, KMT2A, KMT2B, KMT2C, KMT2D, KNSTRN, LARP4B, LATS1, LATS2, MAGOH, MAP2K1, MAP2K2, MAP2K4, MAP2K7, MAP3K1, MAP3K4, MAPK1, MAPK8, MAX, MCL1, MDM2, MDM4, MECOM, MED12, MEF2B, MEN1, MET, MGA, MITF, MLH1, MLH3, MPL, MRE11, MSH2, MSH3, MSH6, MTAP, MTOR, MTUS2, MUTYH, MYCL, MYD88, MYOD1, NBN, NCOR1, NF1, NF2, NFE2L2, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NSD2, NT5C2, NTRK1, NTRK2, NTRK3, NUP93, PALB2, PARP1, PARP2, PARP3, PARP4, PAX5, PBRM1, PCBP1, PDCD1, PDCD1LG2, PDGFRB, PDIA3, PGD, PHF6, PIK3C2B, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIM1, PLCG1, PMS1, PMS2, POLD1, POLE, POT1, PPM1D, PPP2R1A, PPP2R2A, PPP6C, PRDM1, PRDM9, PRKACA, PRKAR1A, PSMB10, PSMB8, PSMB9, PTCH1, PTEN, PTPN11, PTPRD, PTPRT, PXDNL, RAC1, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RARA, RASA1, RASA2, RB1, RBM10, RECQL4, RET, RGS7, RHEB, RHOA, RICTOR, RIT1, RNASEH2A, RNASEH2B, RNASEH2C, RNF43, ROS1, RPA1, RPL10, RPL22, RPL5, RPS6KB1, RPTOR, RUNX1, RUNX1T1, SDHA, SDHB, SDHC, SDHD, SETBP1, SETD2, SF3B1, SIX1, SIX2, SLCO1B3, SLX4, SMAD2, SMAD4, SMARCA4, SMARCB1, SMC1A, SMO, SNCAIP, SOCS1, SOS1, SOX2, SOX9, SPEN, SPOP, SRC, SRSF2, STAG2, STAT1, STAT3, STAT5B, STAT6, STK11, SUFU, TAF1, TAP1, TAP2, TBX3, TCF7L2, TERT, TET2, TGFBR1, TGFBR2, TMEM132D, TNFAIP3, TNFRSF14, TOP1, TP53, TP63, TPMT, TPP2, TRRAP, TSC1, TSC2, TSHR, U2AF1, UGT1A1, USP8, USP9X, VHL, WAS, WT1, XPO1, XRCC2, XRCC3, YAP1, YES1, ZBTB20, ZFHX3, ZMYM3, ZNF217, ZNF429, ZRSR214. [P615] 비유전성 고형암 유전자 패널II검사(TMB/MSI)(RNA포함) (NGS-Solid tumor panel II (TMB/MSI))ALK, BRAF, BRCA1, BRCA2, EGFR, ERBB2, IDH1, IDH2, KIT, KRAS, MYC, MYCN, NRAS, PDGFRA+ABCB1, ABL1, ABL2, ABRAXAS1, ACVR1, ACVR1B, ACVR2A, ADAMTS12, ADAMTS2, AKT1, AKT2, AKT3, ALK, AMER1, APC, AR, ARAF, ARHGAP35, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATP1A1, ATR, ATRX, AURKA, AURKC, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BCL2, BCL2L12, BCL6, BCOR, BCR, BLM, BMP5, BMPR2, BRAF, BRCA1, BRCA2, BRIP1, BTK, CACNA1D, CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD274, CD276, CD79B, CDC73, CDH1, CDH10, CDK12, CDK4, CDK6, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CHD4, CHEK1, CHEK2, CIC, CIITA, CREBBP, CSF1R, CSMD3, CTCF, CTLA4, CTNNB1, CTNND2, CUL1, CUL3, CUL4A, CUL4B, CYLD, CYP2C9, CYP2D6, CYSLTR2, DAXX, DDR1, DDR2, DDX3X, DGCR8, DICER1, DNMT3A, DOCK3, DPYD, DROSHA, DSC1, DSC3, E2F1, EGFR, EIF1AX, ELF3, EMSY, ENO1, EP300, EPAS1, EPCAM, EPHA2, ERAP1, ERAP2, ERBB2, ERBB3, ERBB4, ERCC2, ERCC4, ERCC5,ERG, ERRFI1, ESR1,ETV1, ETV4, ETV5, ETV6, EZH2, FAM135B, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FAT1, FBXW7, FGF19, FGF23, FGF3, FGF4, FGF7, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, FLT4, FOXA1, FOXL2, FOXO1, FUBP1, FYN, GATA2, GATA3, GLI1, GLI3, GNA11, GNA13, GNAQ, GNAS, GPS2, H3F3A, H3F3B, HDAC2, HDAC9, HIF1A, HIST1H2BD, HIST1H3B, HLA-A, HLA-B, HNF1A, HRAS, ID3, IDH1, IDH2, IGF1R, IKBKB, IL6ST, IL7R, INPP4B, IRF4, IRS4, JAK1, JAK2, JAK3, KDM5C, KDM6A, KDR, KEAP1, KIT, KLF4, KLF5, KLHL13, KMT2A, KMT2B, KMT2C, KMT2D, KNSTRN, KRAS, LARP4B, LATS1, LATS2, MAGOH, MAP2K1, MAP2K2, MAP2K4, MAP2K7, MAP3K1, MAP3K4,MAP3K8,MAPK1, MAPK8, MAX, MCL1, MDM2, MDM4, MECOM, MED12, MEF2B, MEN1, MET, MGA, MITF, MLH1, MLH3, MPL, MRE11, MSH2, MSH3, MSH6, MTAP, MTOR, MTUS2, MUTYH,MYB,MYBL1, MYC, MYCL, MYCN, MYD88, MYOD1, NBN, NCOR1, NF1, NF2, NFE2L2, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NRAS,NRG1, NSD2, NT5C2, NTRK1, NTRK2, NTRK3, NUP93,NUTM1, PALB2, PARP1, PARP2, PARP3, PARP4, PAX5, PBRM1, PCBP1, PDCD1, PDCD1LG2, PDGFRA, PDGFRB, PDIA3, PGD, PHF6, PIK3C2B, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIM1, PLCG1, PMS1, PMS2, POLD1, POLE, POT1,PPARG, PPM1D, PPP2R1A, PPP2R2A, PPP6C, PRDM1, PRDM9, PRKACA,PRKACB, PRKAR1A, PSMB10, PSMB8, PSMB9, PTCH1, PTEN, PTPN11, PTPRD, PTPRT, PXDNL, RAC1, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RARA, RASA1, RASA2, RB1, RBM10, RECQL4,RELA, RET, RGS7, RHEB, RHOA, RICTOR, RIT1, RNASEH2A, RNASEH2B, RNASEH2C, RNF43, ROS1, RPA1, RPL10, RPL22, RPL5, RPS6KB1, RPTOR,RSPO2, RSPO3, RUNX1, RUNX1T1, SDHA, SDHB, SDHC, SDHD, SETBP1, SETD2, SF3B1, SIX1, SIX2, SLCO1B3, SLX4, SMAD2, SMAD4, SMARCA4, SMARCB1, SMC1A, SMO, SNCAIP, SOCS1, SOS1, SOX2, SOX9, SPEN, SPOP, SRC, SRSF2, STAG2, STAT1, STAT3, STAT5B, STAT6, STK11, SUFU, TAF1, TAP1, TAP2, TBX3, TCF7L2, TERT, TET2,TFE3, TFEB, TGFBR1, TGFBR2, TMEM132D, TNFAIP3, TNFRSF14, TOP1, TP53, TP63, TPMT, TPP2, TRRAP, TSC1, TSC2, TSHR, U2AF1, UGT1A1, USP8, USP9X, VHL, WAS, WT1, XPO1, XRCC2, XRCC3, YAP1, YES1, ZBTB20, ZFHX3, ZMYM3, ZNF217, ZNF429, ZRSR2*빨간색 표기 유전자는RNA Fusion만 확인하는 유전자입니다. 2023.07.25
희귀질환&극희귀질환&기타염색체이상질환 등록기준_ 23.1.1기준 보건복지부 고시 제2022-136호(2022.12.27.)「본인일부부담금 산정특례에 관한 기준」 고시 일부개정에 따른'희귀질환극희귀질환기타염색체이상질환 등록기준' 자료입니다.진료시 참고해 주세요. 2023.07.04
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희귀질환 바로알기 캠페인 열두번째 두드림(Do Dream)-터너증후군 자조모임 안녕하세요충북대학교병원 희귀유전질환센터에서희귀질환 바로알기 캠페인 열두번째 두드림(Do Dream)-"터너증후군 자조모임"행사를 개최합니다.많은 관심과 참여 부탁드립니다.▶일시 : 2023년 12월 20일 (수) 낮 12시~▶장소 : 충북대학교병원 본관 3층 개신홀▶대상 : 터너증후군 환자 및 가족 / 질환에 관심있는 의료진▶사전등록※ 첨부된 포스터의 QR코드를 이용해주세요.▶사전등록 후 행사 참여시 도시락, 기념품 드립니다.▶문의 : 충북대학교병원 희귀유전질환센터 043-269-7980~9781 2023.11.23
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갤러리 제 5차 2023 충북대학교병원 희귀유전질환 협력의료기관 워크숍
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