Broj gena
744
TAT (radni dani)
25
Metoda
NGS uključujući CNV analizu, mtDNK
Uzorak
Puna krv
Opis
Nasljedne metaboličke greške (IEM) imaju značajan uticaj na ljudske bolesti. CentoIEM je panel gena za metaboličke i bolesti jetre koji vrši skrining niza različitih poremećaja i sadrži gene odgovorne za različite fenotipe, uključujući intermedijarni metabolizam, kao što su aminoacidopatije, organske acidurije, poremećaji urea ciklusa, intolerancija na šećere, mentalni poremećaji i porfirije, između ostalog.
Panel takođe uključuje gene povezane sa citolastičnim i mitohondrijalnim energetskim procesima i metabolizmom koji utiče na ćelijske organele, kao što su lizosomi, peroksisomi, glikozilacija i sinteza holesterola.
Geni
AARS2, ABCA1, ABCB4, ABCC2, ABCC8, ABCD1, ABCD4, ABCG5, ABCG8, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ACY1, ADA, ADAMTS10, ADAMTSL2, ADAR, ADGRG1, ADK, ADSL, AFG3L2, AGA, AGL, AGPAT2, AGPS, AGXT, AHCY, AIFM1, AIMP1, AIMP2, AKT2, AKT3, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, ALS2, AMN, AMPD2, AMT, ANK1, ANTXR2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA2, APOA5, APOB, APOC2, APOE, APP, APPL1, APTX, AQP2, ARG1, ARL6IP1, ARSA, ARSB, ASAH1, ASL, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP7A, ATP7B, ATPAF2, ATRX, AUH, AVP, AVPR2, B3GALNT2, B4GALNT1, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCS1L, BEST1, BICD2, BLK, BMP6, BOLA3, BRAT1, BSCL2, BTD, C19orf12, CA5A, CACNA1D, CAPN1, CASP10, CASP8, CAV1, CAVIN1, CBLIF, CBS, CCT5, CD320, CEL, CERS1, CETP, CISD2, CLCN2, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, COA7, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COL4A1, COL4A2, COLGALT1, COQ2, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, CP, CPOX, CPS1, CPT1A, CPT1C, CPT2, CSF1R, CTC1, CTH, CTLA4, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUBN, CYP11B1, CYP17A1, CYP19A1, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DDC, DDHD1, DDHD2, DDOST, DGUOK, DHCR7, DHDDS, DIABLO, DKC1, DLAT, DLD, DLL3, DNAJC5, DNM1L, DOLK, DPM1, DPM2, DPM3, DPYD, DSTYK, DYM, EARS2, ECHS1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, ENO3, ENPP1, ENTPD1, EPB42, EPHX2, EPM2A, EPRS1, ERCC6, ERCC8, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, F2, F5, FA2H, FADD, FAH, FARS2, FARSB, FAS, FASLG, FASTKD2, FBN1, FBP1, FBXL4, FDX2, FECH, FGF23, FH, FHL1, FLAD1, FOLR1, FOXA2, FOXP3, FOXRED1, FTL, FUCA1, G6PC1, G6PD, GAA, GABRB2, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GATA4, GATA6, GATM, GBA1, GBA2, GBE1, GCDH, GCK, GCSH, GFAP, GFER, GFM1, GFM2, GFPT1, GHR, GJA1, GJB1, GJC2, GK, GLA, GLB1, GLDC, GLIS3, GLRX5, GLUD1, GLUL, GM2A, GMPPA, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GPC3, GRN, GTPBP2, GTPBP3, GUSB, GYG1, GYS1, GYS2, HACE1, HADH, HADHA, HADHB, HAMP, HCFC1, HEPACAM, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HIKESHI, HJV, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, HSPD1, HTRA1, HYAL1, HYCC1, IARS2, IBA57, IDS, IDUA, IER3IP1, IFIH1, IL2RA, INS, INSR, ISCA2, ITIH4, ITK, IVD, JAG1, JAM3, KCNC1, KCNJ10, KCNJ11, KCNT1, KCTD7, KDM6A, KHK, KIDINS220, KIF1A, KIF1C, KIF5A, KLF11, KMT2D, KRAS, L1CAM, L2HGDH, LAMA2, LAMB1, LAMP2, LARGE1, LAT, LCAT, LDB3, LDHA, LDLR, LDLRAP1, LIAS, LIPA, LIPC, LIPE, LIPI, LIPT1, LIPT2, LMBRD1, LMNA, LMNB1, LPIN1, LPL, LRBA, LRPPRC, LYRM7, LYST, MAG, MAGT1, MAN1B1, MAN2B1, MANBA, MARS1, MARS2, MCCC1, MCCC2, MCEE, MCOLN1, MECR, MFSD8, MGAT2, MGME1, MLC1, MLPH, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MRPL44, MRPS22, 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-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTFMT, MTHFR, MTPAP, MTR, MTRFR, MTRR, MYO5A, MYOT, NAGA, NAGLU, NAGS, NARS2, NAXD, NAXE, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NEUROD1, NEUROG3, NFE2L2, NFU1, NGLY1, NHLRC1, NIPA1, NKX2-2, NKX6-2, NOTCH3, NPC1, NPC2, NPR2, NRAS, NT5C2, NUBPL, OAT, OCLN, OCRL, OPA3, OSGEP, OTC, OXCT1, PAH, PANK2, PAX4, PC, PCCA, PCCB, PCK1, PCSK9, PCYT2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP1, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIK3R1, PKLR, PLA2G6, PLAA, PLCG2, PLIN1, PLP1, PLPBP, PMM2, PMPCB, PNPLA6, PNPO, PNPT1, POLG, POLR1C, POLR3A, POLR3B, POR, PPARG, PPOX, PPP1R17, PPT1, PRF1, PRICKLE1, PRKAG2, PRKCD, PRODH, PSAP, PSEN1, PTF1A, PTS, PYCR2, PYGL, PYGM, QDPR, RAB11B, RAB27A, RAB3GAP2, RAI1, RARS1, RARS2, RBCK1, REEP1, REEP2, RFT1, RFX6, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPIA, RRM2B, RTN2, SACS, SAMHD1, SCARB2, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SERAC1, SERPINI1, SGSH, SI, SLC13A3, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A4, SLC25A46, SLC2A1, SLC2A2, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC3A1, SLC40A1, SLC4A1, SLC6A19, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SNTA1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPTA1, SPTB, SRD5A3, SSR4, STAT1, STAT3, STT3A, STT3B, STX11, STXBP2, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, SYNE1, TACO1, TAFAZZIN, TAT, TBC1D24, TCF4, TCN2, TECPR2, TFG, TFR2, TGFB1, TINF2, TK2, TMEM106B, TMEM165, TMEM70, TPK1, TPP1, TREM2, TREX1, TRMT10A, TRPV4, TSFM, TTC19, TUBB4A, TUFM, TUSC3, TWNK, TYMP, TYROBP, UBAP1, UCHL1, UCP2, UFM1, UGT1A1, UMPS, UNC13D, UNC80, UQCRQ, UROD, UROS, USH1C, VAMP1, VCP, VPS11, VPS37A, WARS2, WASHC5, WDR45, WDR45B, WFS1, ZFP57, ZFYVE26, ZFYVE27