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CentoScreen Genome

Broj gena

2250

TAT (radni dani)

20

Metoda

NGS uključujući analizu CNV-a, Inverse Shifting PCR

Uzorak

Puna krv

Opis

CentoScreen Genome test koristi sekvenciranje cijelog genoma kako bi pružio sveobuhvatne genomske informacije i pomogao parovima da donesu informisane odluke o planiranju porodice. Test pokriva više od 2.000 gena povezanih sa recesivnim i X-vezanim poremećajima ranog nastanka. Analiza uključuje specifične procedure za kompleksne varijante, kao što su varijante u genima GBA1, SMN1, AR, CSTB, FXN, FMR1, HBA i CYP21A2, čime se osigurava tačna detekcija u jednom testu. CentoScreen Genome je praktičan izbor za parove jer maksimalizuje detekciju kompleksnih varijanti uz minimalizaciju potrebnih dodatnih testova. Dizajniran je za procjenu rizika da je proband nosilac autosomnog ili X-vezanog recesivnog poremećaja. Napominjemo da, iako negativan rezultat skrininga značajno smanjuje rizik da osoba bude nosilac stanja povezanog sa genima uključenim u panel, on ne eliminiše rizik u potpunosti. Potvrdno testiranje nije dio ove analize. Kada je potvrdno testiranje potrebno, rezultati se izvještavaju kao rezultati skrininga, a preporučuje se potvrda ortogonalnom metodom.

Geni

AAAS, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCB7, ABCC2, ABCC6, ABCC8, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACE, ACO2, ACOX1, ACOX2, ACP5, ACSF3, ACSL4, ACTA1, ACTL6B, ACY1, ADA, ADA2, ADAM17, ADAM9, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS18, ADAMTS19, ADAMTS2, ADAMTSL2, ADAMTSL4, ADAR, ADAT3, ADD3, ADGRG1, ADGRG6, ADGRV1, ADK, ADSL, ADSS1, AEBP1, AFF2, AFG3L2, AGA, AGBL5, AGK, AGL, AGPAT2, AGPS, AGRN, AGT, AGTPBP1, AGTR1, AGXT, AHCY, AHI1, AICDA, AIFM1, AIMP1, AIMP2, AIPL1, AIRE, AK1, AK2, AKR1D1, ALAD, ALB, ALDH18A1, ALDH1A3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX12B, ALOXE3, ALPK3, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMBN, AMER1, AMH, AMHR2, AMN, AMPD1, AMPD2, AMT, ANGPTL3, ANKS6, ANO10, ANO5, ANOS1, ANTXR1, ANTXR2, AP1B1, AP1S1, AP1S2, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOC2, APRT, APTX, AQP2, AR, ARCN1, ARFGEF2, ARG1, ARHGDIA, ARHGEF18, ARHGEF9, ARL13B, ARL2BP, ARL3, ARL6, ARL6IP1, ARMC9, ARPC1B, ARSA, ARSB, ARSL, ARV1, ARX, ASAH1, ASCC1, ASL, ASNS, ASPA, ASPH, ASPM, ASS1, ATAD1, ATAD3A, ATCAY, ATF6, ATG7, ATIC, ATM, ATOH7, ATP13A2, ATP2A1, ATP2B3, ATP6AP2, ATP6V0A2, ATP6V0A4, ATP6V1A, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8A2, ATP8B1, ATR, ATRX, AUH, AURKC, AVPR2, B2M, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAT2, BCHE, BCKDHA, BCKDHB, BCKDK, BCL10, BCL11A, BCOR, BCS1L, BEST1, BFSP1, BGN, BHLHA9, BIN1, BLM, BLNK, BLOC1S3, BLOC1S6, BLTP1, BMP1, BMPER, BMPR1B, BOLA3, BPGM, BPNT2, BRAT1, BRF1, BRIP1, BRWD3, BSCL2, BSND, BTD, BTK, BUB1B, C12orf57, C19orf12, C1QA, C1QB, C1QBP, C1QC, C1S, C2, C2CD3, C3, C5, C6, C7, C8B, CA2, CA5A, CA8, CABP2, CABP4, CACNA1D, CACNA2D4, CAD, CAMTA1, CANT1, CAPN1, CAPN3, CARD11, CARD9, CARS2, CASK, CASP14, CASQ2, CASR, CAST, CAT, CAV1, CAVIN1, CBLIF, CBS, CC2D1A, CC2D2A, CCBE1, CCDC22, CCDC39, CCDC40, CCDC8, CCDC88A, CCDC88C, CCN6, CCND2, CCNO, CD19, CD247, CD27, CD2AP, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD55, CD59, CD79A, CD79B, CD8A, CDAN1, CDC14A, CDC45, CDCA7, CDH11, CDH23, CDH3, CDHR1, CDIN1, CDK10, CDK5RAP2, CDKL5, CDON, CDSN, CDT1, CEBPE, CENPF, CEP104, CEP120, CEP135, CEP152, CEP164, CEP19, CEP290, CEP41, CEP55, CEP57, CEP63, CEP78, CEP83, CERKL, CERS1, CERS3, CFAP298, CFAP300, CFAP418, CFAP43, CFAP53, CFC1, CFD, CFH, CFI, CFL2, CFTR, CHAT, CHKB, CHM, CHMP1A, CHRDL1, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHST6, CHSY1, CHUK, CIB2, CIITA, CILK1, CISD2, CIT, CKAP2L, CLCF1, CLCN1, CLCN2, CLCN4, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN1, CLDN10, CLDN14, CLDN16, CLDN19, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNKSR2, CNNM2, CNNM4, CNOT1, CNPY3, CNTNAP1, CNTNAP2, COA6, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A1, COL11A2, COL13A1, COL17A1, COL18A1, COL1A2, COL25A1, COL27A1, COL4A3, COL4A4, COL4A5, COL6A1, COL6A2, COL6A3, COL7A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COLQ, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, CORO1A, COX10, COX15, COX20, COX6B1, COX7B, CP, CPAMD8, CPAP, CPE, CPLANE1, CPLX1, CPS1, CPT1A, CPT2, CR2, CRADD, CRB1, CRB2, CRBN, CREB3L1, CRIPT, CRLF1, CRPPA, CRTAP, CRYAA, CRYAB, CRYBB1, CRYBB3, CSF2RB, CSF3R, CSPP1, CSTA, CSTB, CTC1, CTDP1, CTH, CTNS, CTPS1, CTSA, CTSC, CTSD, CTSF, CTSK, CTU2, CUBN, CUL3, CUL4B, CUL7, CWC27, CWF19L1, CYB5A, CYB5R3, CYBA, CYBB, CYC1, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP24A1, CYP26B1, CYP26C1, CYP27A1, CYP27B1, CYP2R1, CYP2U1, CYP4F22, CYP4V2, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBH, DBT, DCAF17, DCC, DCDC2, DCHS1, DCLRE1C, DCPS, DCX, DDB2, DDC, DDHD1, DDHD2, DDR2, DDRGK1, DDX11, DDX3X, DDX59, DEGS1, DENND5A, DES, DGAT1, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHH, DHODH, DHPS, DHTKD1, DIAPH1, DIS3L2, DKC1, DLAT, DLD, DLG3, DLL1, DLL3, DMD, DMP1, DNA2, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB2, DNAJC12, DNAJC19, DNAJC21, DNAJC3, DNAJC6, DNAL1, DNASE1L3, DNM1L, DNM2, DNMT3B, DOCK2, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DONSON, DPAGT1, DPH1, DPM1, DPM2, DPM3, DPY19L2, DPYD, DRAM2, DRC1, DRC2, DRC4, DSE, DSG1, DSG4, DSP, DST, DSTYK, DTNBP1, DUOX2, DUOXA2, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYSF, DZIP1L, EARS2, EBP, ECEL1, ECHS1, ECM1, EDA, EDAR, EDARADD, EDN1, EDN3, EDNRB, EFEMP2, EFL1, EFNB1, EGFR, EGR2, EIF2AK3, EIF2AK4, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4A3, ELAC2, ELOVL4, ELP1, ELP2, EMC1, EMD, EML1, EMP2, EMX2, ENAM, ENO3, ENPP1, ENTPD1, EOGT, EPB41, EPRS1, EPS8L2, ERAL1, ERBB3, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERLIN1, ERLIN2, ESCO2, ESPN, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXOSC8, EXOSC9, EXPH5, EXTL3, EYS, F10, F11, F13A1, F13B, F2, F5, F7, F8, F9, FA2H, FAH, FAM149B1, FAM161A, FAM20A, FAM20C, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FASLG, FASTKD2, FAT4, FBLN5, FBP1, FBXL4, FBXO7, FDXR, FECH, FERMT1, FERMT3, FEZF1, FGA, FGB, FGD1, FGD4, FGF23, FGF3, FGF8, FGG, FH, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLG, FLI1, FLNA, FLNB, FLVCR1, FLVCR2, FMN2, FMO3, FMR1, FOLR1, FOXE1, FOXE3, FOXN1, FOXP3, FOXRED1, FRAS1, FREM1, FREM2, FRMPD4, FRRS1L, FSHB, FSHR, FTCD, FTL, FTO, FTSJ1, FUCA1, FUT8, FXN, FYCO1, FZD6, G6PC1, G6PC3, G6PD, GAA, GABBR2, GABRB1, GABRB2, GAD1, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GAN, GATA1, GATM, GBA1, GBA2, GBE1, GCDH, GCH1, GCK, GCM2, GCNT2, GCSH, GDAP1, GDF1, GDF5, GDF6, GDI1, GFER, GFM1, GFM2, GFPT1, GFRA1, GGCX, GH1, GHR, GHRHR, GHSR, GIPC3, GJA1, GJB1, GJB2, GJB6, GJC2, GK, GLA, GLB1, GLDC, GLDN, GLE1, GLIS2, GLIS3, GLRA1, GLRB, GLRX5, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAT1, GNAT2, GNB5, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNRHR, GNS, GORAB, GOSR2, GOT2, GP1BA, GP1BB, GP6, GP9, GPAA1, GPC3, GPC6, GPD1, GPHN, GPI, GPIHBP1, GPR143, GPR179, GPR68, GPSM2, GPT2, GPX4, GREB1L, GRHL2, GRHPR, GRIA3, GRID2, GRIK2, GRIN1, GRIP1, GRK1, GRM1, GRM6, GRN, GRXCR1, GSC, GSS, GTF2H5, GTPBP1, GTPBP2, GTPBP3, GUCY2C, GUCY2D, GUSB, GYG1, GYS1, GYS2, H6PD, HAAO, HACD1, HACE1, HADH, HADHA, HADHB, HAMP, HARS1, HAX1, HBA1, HBA2, HBB, HCCS, HCFC1, HDAC8, HELLS, HEPACAM, HERC1, HERC2, HES7, HESX1, HEXA, HEXB, HFE, HGD, HGF, HGSNAT, HIBCH, HIKESHI, HINT1, HJV, HK1, HLCS, HMGCL, HMGCS2, HMOX1, HMX1, HNMT, HNRNPH2, HOGA1, HOXA1, HOXB1, HOXC13, HPCA, HPD, HPDL, HPGD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HR, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPD1, HSPG2, HTRA1, HTRA2, HUWE1, HYAL1, HYCC1, HYDIN, HYLS1, IARS1, IARS2, IBA57, ICOS, IDH3B, IDS, IDUA, IER3IP1, IFNGR1, IFNGR2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT56, IFT80, IFT81, IGF1, IGF1R, IGFALS, IGFBP7, IGHMBP2, IGLL1, IGSF1, IHH, IKBKB, IKBKG, IL10RA, IL10RB, IL11RA, IL12B, IL12RB1, IL17RA, IL1RAPL1, IL1RN, IL21R, IL2RA, IL2RG, IL36RN, IL7R, ILDR1, IMPA1, IMPG2, INPP5E, INPP5K, INPPL1, INS, INSR, INTS1, INVS, IQCB1, IQCE, IQSEC2, IRAK4, IRF8, IRX5, ISCA1, ISCA2, ISCU, ISG15, ITCH, ITGA2B, ITGA3, ITGA6, ITGA7, ITGA8, ITGB2, ITGB3, ITGB4, ITGB6, ITK, ITPA, ITPR1, IVD, IYD, JAGN1, JAK3, JAM2, JAM3, JUP, KARS1, KATNB1, KATNIP, KCNE1, KCNJ1, KCNJ10, KCNJ11, KCNJ13, KCNV2, KCTD7, KDM5C, KDM6A, KDSR, KERA, KHDC3L, KIAA0586, KIAA0753, KIAA1549, KIDINS220, KIF14, KIF1A, KIF1C, KIF22, KIF7, KIFBP, KISS1R, KIZ, KLHL3, KLHL40, KLHL41, KLHL7, KLK4, KLKB1, KNL1, KPTN, KREMEN1, KRT10, KRT14, KRT25, KRT5, KRT85, KY, KYNU, L1CAM, L2HGDH, LAMA1, LAMA2, LAMA3, LAMB1, LAMB2, LAMB3, LAMC2, LAMC3, LAMP2, LARGE1, LARP7, LARS1, LARS2, LAS1L, LAT, LBR, LCA5, LCAT, LCK, LCT, LDHA, LDLR, LDLRAP1, LEMD2, LEP, LEPR, LFNG, LGI4, LHB, LHCGR, LHFPL5, LHX3, LIAS, LIFR, LIG4, LIM2, LINS1, LIPA, LIPE, LIPH, LIPN, LIPT1, LIPT2, LMAN1, LMBRD1, LMF1, LMOD2, LMOD3, LONP1, LOXHD1, LPAR6, LPIN1, LPIN2, LPL, LRAT, LRBA, LRIG2, LRIT3, LRMDA, LRP2, LRP4, LRP5, LRPAP1, LRPPRC, LRRC56, LRSAM1, LRTOMT, LSS, LTBP2, LTBP3, LTBP4, LYRM7, LYST, LZTFL1, LZTR1, MAB21L2, MAFB, MAG, MAGI2, MAGT1, MAK, MALT1, MAMLD1, MAN1B1, MAN2B1, MANBA, MAOA, MAP3K20, MAPKBP1, MAPT, MARS1, MARS2, MARVELD2, MASP1, MAST1, MAT1A, MATN3, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCFD2, MCIDAS, MCM3AP, MCM4, MCM9, MCOLN1, MCPH1, MDH2, MECP2, MECR, MED12, MED17, MED23, MED25, MEFV, MEGF10, MEGF8, MEOX1, MERTK, MESP2, METTL23, MFF, MFN2, MFRP, MFSD2A, MFSD8, MGAT2, MGME1, MGP, MICU1, MID1, MIPEP, MITF, MKKS, MKS1, MLC1, MLPH, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MMP13, MMP2, MMP20, MMP21, MMUT, MN1, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPDZ, MPI, MPIG6B, MPL, MPLKIP, MPO, MPV17, MPZ, MRAP, MRE11, MRPL3, MRPL44, MRPS22, MRPS34, MSH3, MSL3, MSMO1, MSRB3, MSTO1, MTFMT, MTHFD1, MTHFR, MTM1, MTMR2, MTO1, MTR, MTRFR, MTRR, MTTP, MTX2, MUSK, MUTYH, MVK, MYBPC1, MYD88, MYH2, MYMK, MYO15A, MYO18B, MYO1E, MYO3A, MYO5A, MYO5B, MYO6, MYO7A, MYPN, MYSM1, NAA10, NADK2, NADSYN1, NAGA, NAGLU, NAGS, NALCN, NANS, NARS1, NARS2, NAXD, NAXE, NBAS, NBEAL2, NBN, NCF1, NCF2, NCF4, NCKAP1L, NDE1, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NECTIN1, NECTIN4, NEFL, NEK1, NEK8, NEK9, NEMF, NEU1, NEUROG3, NEXMIF, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NIPAL4, NKX2-6, NKX3-2, NKX6-2, NLRP1, NLRP7, NMNAT1, NNT, NODAL, NONO, NOP10, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NR0B1, NR1H4, NR2E3, NR3C2, NRL, NRXN1, NSDHL, NSMCE2, NSUN2, NT5C2, NT5C3A, NT5E, NTHL1, NTRK1, NTRK2, NUBPL, NUP107, NUP188, NUP62, NUP93, NYX, OAT, OBSL1, OCA2, OCLN, OCRL, ODAD1, ODAD2, ODAD3, ODAPH, OFD1, OGDH, OPA1, OPA3, OPHN1, OPTN, ORAI1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTC, OTOA, OTOF, OTOG, OTOGL, OTUD5, OTUD6B, OTULIN, OXCT1, P2RY12, P3H1, P3H2, P4HB, P4HTM, PADI6, PAH, PAK3, PALB2, PAM16, PANK2, PAPSS2, PARK7, PARN, PARS2, PATL2, PAX7, PC, PCARE, PCBD1, PCCA, PCCB, PCDH12, PCDH15, PCDH19, PCK1, PCNT, PCSK1, PCYT1A, PCYT2, PDE10A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PDXK, PDZD7, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHEX, PHF6, PHF8, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PHYH, PI4KA, PIBF1, PIEZO1, PIEZO2, PIGA, PIGB, PIGC, PIGG, PIGK, PIGL, PIGM, PIGN, PIGO, PIGQ, PIGS, PIGT, PIGV, PIGW, PINK1, PIP5K1C, PISD, PITX3, PJVK, PKD1L1, PKHD1, PKLR, PKP1, PLA2G6, PLAA, PLCB1, PLCB4, PLCD1, PLCE1, PLD1, PLEC, PLEKHG5, PLG, PLK4, PLOD1, PLOD2, PLOD3, PLP1, PLPBP, PLS3, PMM2, PMP22, PMPCA, PMPCB, PNKP, PNP, PNPLA1, PNPLA2, PNPLA6, PNPO, PNPT1, POC1A, POC1B, POLA1, POLE, POLG, POLG2, POLH, POLR1B, POLR1C, POLR1D, POLR3A, POLR3B, POMC, POMGNT1, POMGNT2, POMK, POMP, POMT1, POMT2, POP1, POR, PORCN, POU1F1, POU3F4, PPA2, PPIB, PPM1K, PPP1R15B, PPP1R21, PPT1, PQBP1, PRCD, PRDM12, PRDM5, PRDX1, PREPL, PRF1, PRG4, PRICKLE1, PRKCD, PRKDC, PRKN, PRKRA, PRMT7, PROC, PRODH, PROM1, PROP1, PROS1, PRPH2, PRPS1, PRRX1, PRSS12, PRSS56, PRUNE1, PRX, PSAP, PSAT1, PSMB8, PSMC3IP, PSPH, PTCHD1, PTF1A, PTH, PTH1R, PTPN14, PTPN23, PTPRC, PTPRO, PTPRQ, PTRH2, PTS, PUS1, PUS3, PUS7, PXDN, PYCR1, PYCR2, PYGL, PYGM, PYROXD1, QARS1, QDPR, QRSL1, RAB18, RAB23, RAB27A, RAB28, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAC2, RAD50, RAD51C, RAG1, RAG2, RALGAPA1, RAPSN, RARB, RARS1, RARS2, RASGRP1, RAX, RBBP8, RBCK1, RBM10, RBM8A, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RDX, RECQL4, REEP6, RELN, REN, RETREG1, RFT1, RFX5, RFX6, RFXANK, RFXAP, RHAG, RHO, RIMS2, RIN2, RIPK4, RIPOR2, RLBP1, RLIM, RMND1, RMRP, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF168, RNF216, ROBO3, ROGDI, ROM1, ROR2, RORC, RP1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPS28, RPS6KA3, RRM2B, RS1, RSPH1, RSPH3, RSPH4A, RSPH9, RSPO2, RSPO4, RTEL1, RTN4IP1, RTTN, RUSC2, RXYLT1, RYR1, S1PR2, SACS, SAG, SAMD9, SAMHD1, SAR1B, SARS2, SASS6, SBDS, SBF1, SBF2, SC5D, SCARB2, SCARF2, SCN1B, SCN4A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SCUBE3, SCYL1, SDCCAG8, SDHA, SDHAF1, SDR9C7, SEC23B, SEC24D, SECISBP2, SELENON, SEPSECS, SERAC1, SERPINA1, SERPINB7, SERPINC1, SERPINE1, SERPINF1, SERPINF2, SERPING1, SERPINH1, SETX, SFRP4, SFTPB, SFXN4, SGCA, SGCB, SGCD, SGCG, SGPL1, SGSH, SH2D1A, SH3PXD2B, SH3TC2, SI, SIL1, SIX6, SKIC2, SKIC3, SLC10A2, SLC10A7, SLC11A2, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC18A3, SLC19A2, SLC19A3, SLC1A1, SLC1A4, SLC22A12, SLC22A5, SLC24A1, SLC24A4, SLC24A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC27A4, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC2A9, SLC30A10, SLC33A1, SLC34A1, SLC34A2, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC38A8, SLC39A13, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC45A1, SLC45A2, SLC46A1, SLC4A1, SLC4A11, SLC4A4, SLC52A2, SLC52A3, SLC5A1, SLC5A2, SLC5A5, SLC5A6, SLC5A7, SLC6A17, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC7A14, SLC7A7, SLC7A9, SLC9A3, SLC9A6, SLCO2A1, SLITRK6, SLURP1, SLX4, SMARCAL1, SMARCD2, SMC1A, SMC5, SMG9, SMN1, SMOC1, SMOC2, SMPD1, SMPD4, SMS, SNAP29, SNRPB, SNX10, SNX14, SOD1, SOHLH1, SOST, SOX18, SOX3, SOX6, SP110, SP7, SPAG1, SPARC, SPART, SPATA7, SPECC1L, SPEG, SPG11, SPG21, SPG7, SPINK1, SPINK5, SPINT2, SPR, SPRTN, SPTA1, SPTBN2, SPTBN4, SQSTM1, SRD5A2, SRD5A3, SSR4, ST14, ST3GAL3, ST3GAL5, STAC3, STAG2, STAG3, STAMBP, STAR, STAT1, STAT2, STAT5B, STIL, STIM1, STK4, STRA6, STRADA, STRC, STS, STUB1, STX11, STXBP2, SUCLA2, SUCLG1, SUFU, SUGCT, SULT2B1, SUMF1, SUN5, SUOX, SURF1, SYN1, SYNE1, SYNE4, SYNJ1, SYP, SZT2, TAC3, TACO1, TACR3, TACSTD2, TAF1, TAF2, TAFAZZIN, TALDO1, TANGO2, TAP1, TAP2, TAPBP, TAPT1, TARS2, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D32, TBC1D7, TBCD, TBCE, TBCK, TBX15, TBX19, TBX22, TBXAS1, TCAP, TCIRG1, TCN2, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TDRD7, TECPR2, TECRL, TECTA, TELO2, TENM3, TERT, TF, TFR2, TFRC, TG, TGDS, TGM1, TGM5, TH, THOC2, THOC6, THRB, TIMM50, TIMM8A, TIMMDC1, TJP2, TK2, TKT, TLE6, TMC1, TMC6, TMC8, TMCO1, TMEM107, TMEM126A, TMEM126B, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM260, TMEM38B, TMEM67, TMEM70, TMIE, TMPRSS15, TMPRSS3, TMPRSS6, TMTC3, TNFRSF11A, TNFRSF11B, TNFRSF13B, TNFSF11, TNNT1, TNXB, TOE1, TOP3A, TP53RK, TPI1, TPK1, TPM3, TPO, TPP1, TPRN, TRAF3IP1, TRAIP, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC6B, TRAPPC9, TRDN, TREM2, TREX1, TRHR, TRIM32, TRIM37, TRIOBP, TRIP11, TRIP13, TRIP4, TRIT1, TRMT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRNT1, TRPM1, TRPM6, TRPV6, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TSPYL1, TTC19, TTC21B, TTC7A, TTC8, TTI2, TTLL5, TTN, TTPA, TUBGCP4, TUBGCP6, TUFM, TULP1, TUSC3, TWIST2, TWNK, TXNDC15, TXNL4A, TYK2, TYMP, TYR, TYROBP, TYRP1, UBA1, UBA5, UBE2A, UBE2T, UBE3A, UBE3B, UBR1, UBTF, UCHL1, UFC1, UFM1, UGDH, UGP2, UGT1A1, UMPS, UNC13D, UNC80, UNG, UPB1, UPF3B, UQCRC2, UQCRQ, UROD, UROS, USB1, USH1C, USH1G, USH2A, USP18, USP53, USP9X, UVSSA, VAC14, VAMP1, VAMP2, VARS1, VARS2, VDR, VIPAS39, VKORC1, VLDLR, VMA12, VMA22, VPS13A, VPS13B, VPS13C, VPS33B, VPS41, VPS45, VPS53, VRK1, VSX2, VWF, WARS2, WAS, WASF1, WASHC5, WDPCP, WDR11, WDR19, WDR35, WDR37, WDR45, WDR45B, WDR62, WDR72, WDR73, WDR81, WFS1, WHRN, WIPF1, WLS, WNK1, WNT1, WNT10A, WNT3, WNT4, WNT7A, WRAP53, WRN, WWOX, XDH, XIAP, XPA, XPC, XPNPEP3, XRCC2, XRCC4, XYLT1, XYLT2, YARS2, YY1AP1, ZAP70, ZBTB24, ZC3H14, ZC4H2, ZDHHC9, ZFP57, ZFYVE26, ZIC3, ZMPSTE24, ZMYND10, ZNF335, ZNF408, ZNF423, ZNF469, ZNF711, ZNFX1, ZNHIT3, ZP1

 

REPRODUKTIVNO I PRENATALNO TESTIRANJE