Panel erori inascute de metabolism - CentoIEM

Panelul analizează un număr foarte extins de gene asociate cu erori înnăscute de metabolism, incluzând tulburări ale metabolismului aminoacizilor, acizilor organici, acizilor grași, metabolismului mitocondrial, lizozomal, peroxizomal, precum și defecte ale ciclului ureei, glicozilării și metabolismului energetic celular. Testul permite identificarea cauzelor genetice ale unor boli metabolice rare, severe sau cu debut precoce.

Gene analizate

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