NGS-панель «Болезни обмена веществ»

AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB6, ABCC8, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACOX1, ACOX2, ACSF3, ACY1, ADA, ADAMTSL2, ADAR, ADK, ADSL, AGA, AGK, AGL, AGPAT2, AGPS, AGXT, AHCY, AIFM1, AKR1D1, AKT2, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, AMACR, AMN, AMPD1, AMT, ANGPTL3, ANTXR2, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, APRT, APTX, AQP2, ARG1, ARSA, ARSB, ASAH1, ASL, ASNS, ASPA, ASS1, ATIC, ATP13A2, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MK (ATP5MD), ATP6AP1, ATP6AP2, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, AVP, AVPR2, B4GALT1, BAAT, BCAT2, BCKDHA, BCKDHB, BCKDK, BCS1L, BLK, BLVRA, BOLA3, BSCL2, BTD, C19orf12, C1QBP, C2orf69, CA5A, CACNA1D, CACNA1S, CARS2, CASR, CAT, CAV1, CAVIN1, CBLIF, CBS, CCDC115, CD320, CEL, CEP19, CETP, CFTR, CHCHD10, CLCN5, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPX, CNNM2, COA3, COA5, COA6, COA8, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX16, COX20, COX4I1, COX5A, COX6A2, COX6B1, COX8A, CP, CPOX, CPS1, CPT1A, CPT2, CRAT, CSF1R, CTH, CTNS, CTSA, CTSD, CTSF, CTSK, CUL3, CYC1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, CYP2R1, CYP7B1, D2HGDH, DARS2, DBH, DBT, DDC, DDOST, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHTKD1, DLAT, DLD, DMGDH, DMP1, DNAJC12, DNAJC19, DNAJC5, DNM1L, DOLK, DPAGT1, DPM1, DPM2, DPYD, DPYS, DYRK1B, EARS2, EBP, ECHS1, EDEM3, EGF, EIF2AK3, ELAC2, ENO3, ENPP1, ETFA, ETFB, ETFDH, ETHE1, FAH, FAR1, FARS2, FASTKD2, FBP1, FBXL4, FCSK, FDX2, FECH, FGF23, FH, FLAD1, FMO3, FOLR1, FOXP3, FOXRED1, FTCD, FTH1, FTL, FUCA1, FUT8, FXYD2, G6PC1 (G6PC), G6PD, GAA, GALC, GALE, GALK1, GALM, GALNS, GALNT2, GALNT3, GALT, GAMT, GATB, GATC, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCLC, GCSH, GFAP, GFER, GFM1, GFM2, GHR, GK, GLA, GLB1, GLDC, GLIS3, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GNA11, GNAS, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GPAA1, GPC3, GPD1, GPHN, GPI, GPIHBP1, GPX1, GRHPR, GRN, GSR, GSS, GTPBP3, GUSB, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HOGA1, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HSPD1, HTRA2, HYAL1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, INS, INSR, ISCA1, ISCA2, ISCU, IVD, KARS1, KCNJ10, KCNJ11, KDM6A, KIF12, KLF11, KLHL3, L2HGDH, LAMP2, LARS2, LCAT, LCT, LDHA, LDLR, LDLRAP1, LEP, LEPR, LIAS, LIPA, LIPC, LIPE, LIPT1, LIPT2, LMBRD1, LMF1, LMNA, LPIN1, LPL, LRPPRC, LYRM4, LYRM7, MAGEL2, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MARS2, MAT1A, MC4R, MCCC1, MCCC2, MCEE, MCOLN1, MFF, MFSD8, MGAT2, MGME1, MICOS13, MIEF2, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS25, MRPS28, MRPS34, MRPS7, MSTO1, MTFMT, MTHFD1, MTHFR, MTO1, MTPAP, MTR, MTRFR (C12ORF65), MTRR, MTTP, MVK, NADK2, NAGA, NAGLU, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NEUROD1, NEUROG3, NFE2L2, NFS1, NFU1, NGLY1, NPC1, NPC2, NR0B2, NR1H4, NR3C2, NSUN3, NTRK2, NUBPL, NUS1, OAT, OCRL, OGDH, OPA1, OPA3, OPLAH, OSGEP, OTC, OXCT1, PAH, PANK2, PAX4, PC, PCBD1, PCCA, PCCB, PCK1, PCK2, PCSK1, PCSK9, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PEPD, PET100, PET117, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PHEX, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGC, PIGM, PIGO, PIGV, PIGW, PIGY, PINK1, PKLR, PLA2G6, PLIN1, PLPBP, PMM2, PMPCB, PNP, PNPLA2, PNPLA8, PNPO, PNPT1, POLD1, POLG, POLG2, POMC, PPARG, PPM1K, PPOX, PPP1R15B, PPT1, PRDX1, PRKAG2, PRODH, PRPS1, PSAP, PSAT1, PSPH, PTCD3, PTF1A, PTS, PUS1, PYGL, PYGM, QDPR, QRSL1, RAI1, RARS2, REPS1, RFT1, RFX6, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RPIA, RRM2B, SAMHD1, SAR1B, SARS2, SC5D, SCN4A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SERAC1, SFXN4, SGSH, SI, SLC10A2, SLC12A3, SLC13A3, SLC16A1, SLC17A5, SLC19A1, SLC19A2, SLC19A3, SLC22A12, SLC22A5, SLC25A1, SLC25A10, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A42, SLC2A1, SLC2A2, SLC2A9, SLC30A10, SLC33A1, SLC34A1, SLC34A3, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC46A1, SLC51B, SLC52A2, SLC5A1, SLC6A19, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLC9A3R1, SLCO1B1, SMPD1, SPR, SRD5A3, SSR4, STAR, STT3A, STT3B, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, TACO1, TAFAZZIN (TAZ), TALDO1, TANGO2, TARS2, TAT, TCN2, TFAM, TFR2, TH, TIMM22, TIMM50, TIMMDC1, TJP2, TK2, TMEM126B, TMEM165, TMEM199, TMEM70, TOP3A, TPI1, TPK1, TPP1, TREX1, TRIT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRPM6, TSFM, TTC19, TUB, TUFM, TUSC3, TWNK, TXN2, TYMP, UGT1A1, UMPS, UPB1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROC1, UROD, UROS, USP53, VARS2, VDR, VIPAS39, VPS33A, WARS2, WDR45, WFS1, WNK4, XDH, YARS2, ZBTB20, ZFP57, ZMPSTE24