NephroRef global - 504 gene (afecțiuni renale)
Gene cuprinse în panel:
ABCB11, ABCB4, ABCC6, ABCC8, ACE, ACSL4, ACTG2, ACTN4, ACVR2B, ADAMTS13, ADCY10, ADGRV1, AGT, AGTR1, AGXT, AHI1, AIPL1, ALG1, ALG8, ALG9, ALMS1, ALPL, AMN, ANKS6, ANLN, ANOS1, AP2S1, APOA1, APOA2, APOC2, APOC3, APOE, APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC4, ATP6V0A4, ATP6V1B1, ATP8B1, ATXN10, AVP, AVPR2, B2M, B9D1, B9D2, BAP1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BLK, BMP4, BNC2, BSND, C2CD3, C3, C8orf37, CA2, CACNA1H, CASR, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCND1, CCNO, CCNQ, CD151, CD2AP, CD46, CDC73, CDH23, CDKN1C, CEL, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP298, CFAP410, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD7, CHRNA3, CLCN5, CLCNKA, CLCNKB, CLDN14, CLDN16, CLDN19, CLRN1, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CPA1, CPLANE1, CRB1, CRB2, CRX, CSPP1, CST3, CTNS, CTRC, CUBN, CUL3, CUL4B, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP24A1, CYP27B1, CYP2R1, DCDC2, DDX59, DGKE, DHCR7, DICER1, DIS3L2, DLC1, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, DSTYK, DUSP6, DYNC2H1, DYNC2LI1, DYRK1B, E2F3, EGF, EHHADH, EMP2, ENPP1, EPCAM, ERCC4, EVC, EVC2, EXT1, EYA1, FAH, FAM20A, FAN1, FANCB, FAT1, FEZF1, FGA, FGF17, FGF20, FGF23, FGF8, FGFR1, FH, FLCN, FLRT3, FN1, FOXC2, FOXI1, FOXP3, FRAS1, FREM1, FREM2, FSHB, FXYD2, GATA3, GATM, GCK, GHR, GLA, GLI2, GLI3, GLIS2, GNA11, GNAS, GNRH1, GNRHR, GPC3, GPHN, GRHPR, GRIP1, GSN, GUCY2D, HESX1, HNF1A, HNF1B, HNF4A, HOGA1, HOXA13, HPRT1, HPSE2, HS6ST1, HSD11B2, HSD3B2, HYDIN, HYLS1, ICK, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IFT81, IL17RD, IMPDH1, INF2, INPP5E, INS, INVS, IQCB1, ITGA3, ITGA8, ITGB4, JAG1, KANK1, KANK2, KATNIP, KCNA1, KCNJ1, KCNJ10, KCNJ11, KCNJ13, KCNJ5, KDM6A, KIAA0586, KIF14, KIF7, KISS1, KISS1R, KL, KLF11, KLHL3, KMT2D, KYNU, LAMA5, LAMB2, LCA5, LCAT, LEFTY2, LEP, LEPR, LHB, LHX3, LHX4, LIFR, LMNA, LMX1B, LPL, LRAT, LRIG2, LRP2, LRP4, LRP5, LRRC6, LYZ, LZTFL1, MAFB, MAGED2, MAGEL2, MAGI2, MAPKBP1, MC3R, MC4R, MEFV, MET, MITF, MKKS, MKS1, MLH1, MMACHC, MOCOS, MOCS1, MPV17, MRE11, MSH2, MSH6, MUC1, MYH9, MYO1E, MYO7A, NEK1, NEK8, NEUROD1, NIPBL, NKX2-5, NLRP3, NME8, NODAL, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR0B2, NR3C1, NR3C2, NSMF, NTRK2, NUP107, NUP205, NUP93, NXF5, OCRL, OFD1, OTX2, PAX2, PAX4, PBX1, PCARE, PCDH15, PCSK1, PDE6D, PDSS2, PDX1, PHEX, PHF6, PIGA, PKD1, PKD2, PKHD1, PLCE1, PLG, PMM2, PMS2, PNPLA6, POC1B, PODXL, POMC, POR, POU1F1, PPARG, PREPL, PRKCSH, PROK2, PROKR2, PROP1, PRSS1, PTEN, PTPRO, RD3, RDH12, REN, RET, ROBO2, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH4A, RSPH9, SALL1, SALL4, SARS2, SCARB2, SCLT1, SCN4A, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, SEC61A1, SEC63, SEMA3A, SIM1, SIX1, SIX5, SLC12A1, SLC12A2, SLC12A3, SLC22A12, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC4A4, SLC5A1, SLC5A2, SLC7A9, SLC9A3R1, SLIT2, SMARCA4, SMARCAL1, SMARCB1, SPAG1, SPATA7, SPINK1, SPRY4, SRCAP, STAR, STRA6, STRADA, STS, SYNPO, TAC3, TACR3, TBC1D1, TBC1D8B, TBX18, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TP53, TRAF3IP1, TRAP1, TRIM32, TRPC6, TRPM6, TSC1, TSC2, TTC21B, TTC8, TTR, TULP1, UCP3, UGT1A1, UMOD, USH1C, USH1G, USH2A, USP9X, VDR, VHL, VIPAS39, VPS13B, VPS33B, WDPCP, WDR11, WDR19, WDR34, WDR35, WDR60, WDR72, WDR73, WNK1, WNK4, WNT5A, WT1, XDH, XPNPEP3, ZAP70, ZEB1, ZIC3, ZMPSTE24, ZMYND10, ZNF423.
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).