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Celemics Inherited NGS Panel Detayı

Celemics Inherited NGS Panel

Celemics Inherited NGS Panel-INHE01AD16

Assay Genes;
PEX10,NPHP4,PLEKHG5,PLOD1,CLCNKA,CLCNKB,DDOST,ALPL,HSPG2,HMGCL,FUCA1,SELENON,NDUFS5,PPT1,ZMPSTE24,CLDN19,P3H1,SLC2A1,MPL,ST3GAL3,MMACHC,POMGNT1,CPT2,DHCR24,BSND,ALG6,PGM1,SLC35D1,ACADM,AGL,DBT,COL11A1,AMPD2,AMPD1,TSHB,HSD3B2,PHGDH,HFE2,TARS2,CTSK,DPM3,GBA,PKLR,LMNA,MPZ,DDR2,NPHS2,LAMB3,RAB3GAP2,LBR,COQ8A,GJC2,TBCE,B3GALNT2,FH,NBAS,HADHA,HADHB,MPV17,XDH,SRD5A2,LRPPRC,LHCGR,PNPT1,PEX13,B3GNT2,ALMS1,DGUOK,MOGS,SUCLG1,ST3GAL5,EIF2AK3,ERCC3,RAB3GAP1,ZEB2,NEB,SCN2A,SCN1A,ABCB11,LRP2,CHRNA1,AGPS,HIBCH,MARS2,ALS2,FASTKD2,CPS1,ATIC,BCS1L,CYP27A1,WNT10A,NHEJ1,MRPL44,CHRNG,WNT7A,XPC,BTD,STT3B,GLB1,CRTAP,MYD88,POMGNT2,PTH1R,TREX1,SLC25A20,LAMB2,AMT,DAG1,GMPPB,RFT1,HESX1,FLNB,SLC25A26,GBE1,POU1F1,TRMT10C,IQCB1,ACAD9,MRPL3,NPHP3,PCCB,MRPS22,ATR,GYG1,GFM1,IFT80,DNAJC19,MCCC1,ALG3,OPA1,IDUA,EVC2,EVC,NKX3-2,SRD5A3,GNRHR,FRAS1,ANTXR2,COQ2,DMP1,MTTP,HADH,PRSS12,MFSD8,MMAA,FGA,ETFDH,SLC25A4,NDUFS6,NSUN2,AMACR,NIPBL,LIFR,OXCT1,MOCS2,NDUFS4,ERCC8,NDUFAF2,SMN1,MCCC2,HEXB,AP3B1,ARSB,ADGRV1,HSD17B4,ALDH7A1,SLC22A5,UQCRQ,SIL1,LARS,SLC,6A2,NSD1,PROP1,LYRM4,FARS2,DSP,NHLRC1,ALDH5A1,NEU1,MOCS1,AARS2,MUT,PKHD1,RAB23,MTO1,SLC17A5,BCKDHB,SLC35A1,NDUFAF4,FBXL4,GRIK2,PDSS2,OSTM1,COL10A1,TSPYL1,NUS1,LAMA2,ENPP1,PEX7,STX11,EPM2A,RMND1,GTF2H5,PLG,FAM20C,ISPD,FAM126A,PGAM2,DDC,GUSB,ASL,SBDS,POR,ABCB4,PEX1,COL1A2,SLC26A5,RELN,SLC26A4,DLD,AGK,TAS2R38,PRKAG2,CLN8,TUSC3,ESCO2,STAR,POMK,HGSNAT,TTPA,GDAP1,CA2,CNGB3,NBN,TMEM67,PDP1,UQCRB,VPS13B,RRM2B,RAD21,TNFRSF11B,TRAPPC9,CYP11B1,VLDLR,GLDC,APTX,B4GALT1,GALT,RMRP,AUH,FBP1,FANCC,HSD17B3,XPA,ALG2,INVS,ALDOB,FKTN,ELP1,NR5A1,STXBP1,DPM2,GLE1,SPTAN1,DOLK,ASS1,POMT1,SURF1,ADAMTSL2,LHX3,PDSS1,ERCC6,TFAM,EGR2,PRF1,CDH23,PSAP,MRPS16,PTEN,PLCE1,COX15,TWNK,CYP17A1,SMC3,SFXN4,UROS,SLC25A22,CTSD,TH,SMPD1,TPP1,AMPD3,USH1C,LDHA,PDHX,SLC35C1,DDB2,RAPSN,NDUFS3,SLC22A12,PYGM,RNASEH2C,PC,NDUFV1,NDUFS8,TCIRG1,CPT1A,IGHMBP2,DHCR7,FOLR1,INPPL1,MYO7A,ALG8,NARS2,MMP13,DYNC2H1,ACAT1,ATM,ALG9,SLC37A4,DPAGT1,SC5D,STT3A,KCNJ1,PEX5,GYS2,FGD4,COL2A1,PFKM,TUBA1A,SUOX,ERBB3,CYP27B1,TSFM,RXYLT1,GNPTAB,PAH,MMAB,TRPV4,HPD,C12orf65,GJB2,SACS,MIPEP,FREM2,SLC25A15,SUCLA2,RNASEH2B,ATP7B,ALG11,CLN5,PCCA,ERCC5,LIG4,CARS2,PNPTGM1,FOXG1,MGAT2,PYGL,TRMT5,GPHN,ZFYVE26,NPC2,POMT2,VIPAS39,GALC,TRIP11,UBE3A,SLC12A6,IVD,UBR1,BLOC1S6,SLC12A1,CYP19A1,MYO5A,RAB27A,MTFMT,CLN6,HEXA,STRA6,CYP11A1,MPI,ETFA,FAH,POLG,BLM,VPS33B,CLCN7,MRPS34,ALG1,PMM2,ERCC4,COG7,EARS2,CLN3,TUFM,ALDOA,PHKG2,PHKB,RPGRIP1L,SLC12A3,COQ9,TK2,HSD11B2,COG8,TAT,GCSH,ZNF469,APRT,ASPA,CTNS,ENO3,ACADVL,MPDU1,SCO1,ELAC2,COX10,ALDH3A2,PEX12,NAGLU,G6PC,NAGS,WNT3,PNPO,COL1A1,TRIM37,SOX9,COG1,USH1G,TSEN54,GALK1,UNC13D,ACOX1,GAA,SGSH,NPC1,SETBP1,ATP5F1A,TCF4,ATP8B1,NDUFS7,GAMT,MCOLN1,STXBP2,NDUFA7,TYK2,MAN2B1,RNASEH2A,GCDH,GTPBP3,SCN1B,HAMP,COX6B1,NPHS1,DLL3,PRX,BCKDHA,ETHE1,ERCC2,OPA3,FKRP,GYS1,NUP62,ETFB,SLC4A11,PANK2,MGME1,GSS,SAMHD1,ADA,MMP9,DPM1,EDN3,HLCS,CBS,CSTB,COL6A1,COL6A2,PEX26,SNAP29,TXN2,PLA2G6,ADSL,ALG12,MLC1,SCO2,TYMP,ARSA,ARSE,NLGN4X,MID1,AP1S2,NHS,CDKL5,PHKA2,PDHA1,RPS6KA3,MBTPS2,SMS,ARX,IL1RAPL1,OTC,TSPAN7,BCOR,USP9X,CASK,ZNF674,UBA1,ZNF41,FTSJ1,EBP,PQBP1,SYP,C,CN5,SHROOM4,KDM5C,SMC1A,HSD17B10,HUWE1,FGD1,MAGED2,ARHGEF9,AR,OPHN1,EFNB1,EDA,DLG3,MED12,HDAC8,PHKA1,SLC16A2,ZDHHC15,ATRX,ATP7A,BRWD3,ZNF711,PCDH19,TIMM8A,GLA,NXF5,PLP1,PRPS1,ACSL4,PAK3,DCX,ALG13,AGTR2,UBE2A,UPF3B,NDUFA1,LAMP2,CUL4B,OCRL,ZDHHC9,AIFM1,GPC3,HPRT1,SLC9A6,ARHGEF6,ZIC3,F9,SOX3,AFF2,IDS,MTM1,SLC6A8,ABCD1,SSR4,L1CAM,MECP2,RPL10,TAZ,GDI1,G6PD,IKBKG,DKC1,F8,RAB39B

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