NeuroRef Global - 1200 gene (afecțiuni neurologice)
Gene cuprinse în panel:
A2M, AAAS, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABCD4, ABHD12, ABHD5, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACE, ACKR1, ACO2, ACOX1, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTG1, ACVRL1, ACY1, ADAM10, ADAR, ADCY5, ADGRG1, ADGRV1, ADK, ADNP, ADSL, AFF2, AFG3L2, AGA, AGK, AGL, AGRN, AGXT, AHCY, AHI1, AIFM1, AIMP1, AKT1, AKT3, ALAD, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX5AP, ALS2, ALX1, ALX3, ALX4, AMACR, AMN, AMPD1, AMPD2, AMT, ANG, ANK3, ANKRD11, ANO10, ANO3, ANO5, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOE, APP, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARSA, ARSB, ARSE, ARSI, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATCAY, ATIC, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B3, ATP2B4, ATP5E, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRX, ATXN3, B3GLCT, B4GALNT1, B4GALT1, B9D1, B9D2, BAG3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCOR, BCS1L, BDNF, BEST1, BICD2, BIN1, BLOC1S3, BLOC1S6, BOLA3, BRAF, BRAT1, BRWD3, BSCL2, BSND, C12orf57, C12orf65, C19orf12, C9orf72, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1H, CACNA1S, CACNB4, CACNG2, CAMTA1, CAPN3, CASC5, CASK, CASR, CAV3, CBL, CC2D1A, CC2D2A, CCDC28B, CCDC78, CCDC88C, CCM2, CCT5, CD207, CD320, CD36, CD59, CD96, CDH15, CDK5RAP2, CDKL5, CDON, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CERS1, CFL2, CHAT, CHCHD10, CHD2, CHD7, CHD8, CHMP1A, CHMP2B, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHSY1, CISD2, CISH, CIZ1, CLCN1, CLCN2, CLCNKA, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CNBP, CNTN1, COA5, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL12A1, COL18A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COQ2, COQ8A, COQ9, COX10, COX15, COX6A1, COX6B1, CP, CPA6, CPLANE1, CPT2, CR1, CRADD, CRBN, CREBBP, CRPPA, CRYAB, CSF1R, CSF2RB, CSPP1, CST3, CSTB, CTC1, CTDP1, CTNNB1, CTSD, CUL4B, CWF19L1, CYP11B2, CYP27A1, CYP2U1, CYP7B1, DAG1, DARS2, DBT, DCAF17, DCTN1, DCX, DDHD1, DDHD2, DDOST, DEPDC5, DES, DGUOK, DHCR7, DHH, DHTKD1, DIAPH3, DKC1, DLD, DLG3, DMD, DNAH9, DNAJB2, DNAJB6, DNAJC19, DNAJC5, DNAJC6, DNM1L, DNM2, DNMT1, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM3, DRD3, DSC3, DST, DTNBP1, DYNC1H1, DYNC2H1, DYRK1A, DYSF, EARS2, EBP, EDN3, EDNRB, EEF2, EFHC1, EFTUD2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4E, EIF4G1, ELK1, ELOVL4, ELOVL5, ELP1, EMD, EMX2, ENO3, ENTPD1, EOMES, EP300, EPB41L1, EPM2A, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ERLIN1, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, F2, F5, FA2H, FADD, FAM126A, FAM134B, FANCB, FASTKD2, FBLN5, FBXO38, FBXO7, FCGR2B, FGA, FGD1, FGD4, FGF10, FGF14, FGFR1, FGFR2, FGFR3, FH, FHL1, FIG4, FKRP, FKTN, FLNA, FLNC, FLRT1, FLVCR1, FLVCR2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXP3, FOXRED1, FREM1, FRG1, FRMD7, FTL, FTO, FTSJ1, FUS, FXN, FZD9, GAA, GABRA1, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GAMT, GAN, GARS, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCSH, GDAP1, GDI1, GDNF, GFAP, GFER, GFM1, GFPT1, GIGYF2, GJB1, GJB3, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GM2A, GMPPB, GNAL, GNB4, GNE, GNPAT, GNS, GOSR2, GP1BA, GPC3, GPR143, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GRN, GSN, GUSB, GYG1, GYS1, HADHA, HADHB, HCCS, HDAC4, HDAC8, HEPACAM, HERC2, HESX1, HEXA, HEXB, HFE, HGSNAT, HINT1, HK1, HMGCS2, HNRNPDL, HOXA1, HOXD10, HPCA, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HRAS, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, HTRA2, HTT, HUWE1, HYAL1, ICAM1, ICK, IDS, IDUA, IER3IP1, IFRD1, IFT140, IFT27, IGBP1, IGF1, IGHMBP2, IKBKG, IL11RA, IL1RAPL1, IL1RN, INF2, INPP5E, INS, IQSEC2, IRX5, ITM2B, ITPR1, JRK, KANK1, KARS, KAT6B, KBTBD13, KCNA1, KCNC3, KCND3, KCNE5, KCNJ1, KCNJ10, KCNJ11, KCNK18, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KDM6A, KIAA2022, KIF11, KIF1A, KIF1B, KIF1C, KIF21A, KIF5A, KIF7, KIRREL3, KLF8, KMT2A, KMT2D, KRAS, KRIT1, KRT5, L1CAM, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE, LBR, LDB3, LDHA, LGI1, LHX4, LIMS2, LINS, LITAF, LMBRD1, LMNA, LMNB1, LPIN1, LPIN2, LRP2, LRPPRC, LRRK2, LRSAM1, LYZ, LZTFL1, MAG, MAGEL2, MAGI2, MAGT1, MAMLD1, MAN1B1, MAOA, MAPK10, MAPT, MARS1, MARS2, MASP1, MATR3, MBD5, MBTPS2, MCEE, MCPH1, MECP2, MED12, MED17, MED23, MED25, MEF2C, MET, MFN2, MFSD8, MGAT2, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOGS, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11A, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTMR14, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRR, MUSK, MVK, MYCN, MYF6, MYH14, MYH7, MYH9, MYO5A, MYOT, NAA10, NAGA, NAGLU, NAT8L, NBN, NDE1, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECTIN1, NEDD4L, NEFH, NEFL, NEU1, NF1, NFIX, NFU1, NGF, NHEJ1, NHLRC1, NHS, NIPA1, NIPBL, NKX2-1, NLGN3, NLGN4X, NLRP12, NLRP3, NOD2, NOG, NOL3, NOP56, NOS2, NOS3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NRG1, NRXN1, NSD1, NSDHL, NSUN2, NT5C2, NTRK1, NTRK2, NUBPL, NXF5, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPTN, ORC1, OTC, PAFAH1B1, PAH, PAK3, PANK2, PARK7, PAX6, PC, PCBD1, PCDH19, PCK2, PCNT, PDCD10, PDE6D, PDE8B, PDHA1, PDK3, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGK1, PGM1, PHF6, PHF8, PHKA1, PHOX2B, PHYH, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3CA, PIK3R2, PIK3R5, PINK1, PLA2G6, PLCB1, PLEC, PLEKHG4, PLEKHG5, PLP1, PMM2, PMP22, PNKD, PNKP, PNPLA2, PNPLA6, PNPO, POGZ, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PPT1, PQBP1, PREPL, PRICKLE1, PRICKLE2, PRKAG2, PRKCG, PRKCH, PRKN, PRKRA, PRNP, PROP1, PRPH2, PRPS1, PRRT2, PRRX1, PRSS12, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTEN, PTF1A, PTPN11, PTS, PUS1, PYGM, QARS, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB7A, RABGGTA, RAD21, RAD50, RAF1, RAI1, RANBP2, RAPSN, RARS2, RBBP8, RBFOX1, RBFOX3, RBM10, RBM8A, REEP1, REEP2, RELN, RET, RFT1, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF135, RNF170, RNU4ATAC, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RTN2, RUBCN, RYR1, SACS, SAMHD1, SBF1, SBF2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SELENON, SEPSECS, SERPINI1, SETBP1, SETD2, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SH3TC2, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIGMAR1, SIL1, SIX3, SIX6, SKI, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC20A2, SLC22A5, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC3A1, SLC4A1, SLC4A4, SLC5A7, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMCHD1, SMN1, SMN2, SMPD1, SMS, SNAP29, SNCA, SNCAIP, SNCB, SNIP1, SNX3, SOBP, SOD1, SORL1, SOS1, SOX10, SOX3, SPAST, SPG11, SPG20, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SRD5A3, SRPX2, ST3GAL3, ST3GAL5, STIL, STRADA, STUB1, STXBP1, SUCLA2, SUCLG1, SUMF1, SURF1, SYN1, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SYT14, SZT2, TACO1, TAF1, TAF2, TARDBP, TAS2R38, TAZ, TBC1D24, TBCE, TBL1XR1, TBX1, TCAP, TCF4, TCTN1, TCTN2, TCTN3, TDP1, TECPR2, TECR, TFAP2A, TFAP2B, TFG, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, TICAM1, TIMM8A, TIRAP, TK2, TLR3, TLR5, TMCO1, TMEM126A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TMLHE, TNF, TNFSF4, TNNT1, TNPO3, TOR1A, TP63, TPK1, TPM2, TPM3, TPP1, TRAF3, TRAPPC11, TRAPPC9, TREM2, TREX1, TRIM2, TRIM32, TRPM6, TRPM7, TRPS1, TRPV4, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC8, TTI2, TTN, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBGCP6, TUSC3, TWIST1, TWNK, TYMP, TYROBP, UBA1, UBE2A, UBE3A, UBQLN2, UCHL1, UMPS, UNC93B1, UPB1, UPF3B, UQCRB,
Metode și materiale folosite
- MetodaNGS
- Material uzualsânge integral EDTA (2 tuburi primare)
- Transport (temp. °C)2 - 8
- Cantitate minimă6 ml
- FrecvențaTransmis
- Observații
Este necesară completarea de către medic și pacient a formularului de consimțământ și a fișei de însoțire a probei (engleză + română).
Rezultat în maxim 40 - 60 de zile.
Program recoltare: luni și marți, până la ora 15:00, cu excepția laboratorului central Timișoara (luni, marți și miercuri), până la ora 12:00).