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GeneScreen® Expanded

GeneScreen® è un carrier screening test che permette di eseguire un’analisi multipla di malattie genetiche ereditarie.
Il test GeneScreen® Expanded prevede lo studio di un ampio numero di geni e delle patologie raccomandate da ACMG e ACOG, includendo inoltre l’analisi di disordini specifici per individui di discendenza ebrea ashkenazita.

Geni/Polimorfismi:

ABCA12, ABCA3, ABCA4, ABCB11, ABCB7, ABCC2, ABCC6, ABCC8, ABCD1, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACE, ACOX1, ACSF3, ACSL4, ACTN4, ADA, ADAMTS13, ADAMTS2, ADAMTSL2, ADGRG1, ADGRV1/GPR98, ADK, AFF2, AGA, AGL, AGPS, AGT, AGTR1, AGTR2, AGXT, AHCY, AHI1, AIPL1, AIRE, ALAS2, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALS2, AMACR, AMPD1, AMT, ANTXR2, AP1S1, AP1S2, AP3B1, AQP2, AR, ARG1, ARHGEF6, ARHGEF9, ARL13B, ARL6, ARSA, ARSB, ARSE, ARSF, ARX, ASL, ASNS, ASPA, ASPM, ASS1, ATIC, ATM, ATP6AP2, ATP6V0A2, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATR, ATRX, AUH, B4GALT1, B9D2, BBS1, BBS10, BBS12, BBS2, BCHE, BCKDHA, BCKDHB, BCOR, BCS1L, BEST1, BLM, BLOC1S6, BRCA2, BRIP1, BRWD3, BSCL2, BSND, BTD, BTK, C10ORF2, C3, CA2, CANT1, CAPN3, CASK, CASP10, CASQ2, CBS, CC2D2A, CCDC103, CCDC39, CD19, CD2AP, CD3D, CD3E, CD3G, CD40LG, CDH23, CDH3, CDHR1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERKL, CFH, CFP, CFTR, CHM, CHRNA1, CHRND, CHRNE, CHRNG, CHST6, CIITA, CLCN1, CLCN5, CLCN7, CLDN1, CLDN14, CLN3, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, COG1, COG7, COG8, COL11A1, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL4A3, COL4A4, COL4A5, COL6A1, COL6A2, COL6A3, COL7A1, COL9A1, COQ2, COQ8A, COQ9, COX10, COX15, COX6B1, CPS1, CPT2, CRB1, CRLF1, CRTAP, CRX, CSTB, CTH, CTNS, CTSC, CTSD, CTSK, CUL4B, CYBA, CYBB, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4V2, CYP7B1, D2HGDH, DBT, DCLRE1C, DCX, DDB2, DDC, DFNB59, DGUOK, DHCR24, DHCR7, DHDDS, DKC1, DLD, DLG3, DLL3, DMD, DNAH5, DNAI1, DNAI2, DNAJC19, DNAL1, DNMT3B, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPYD, DSP, DUOX2, DUOXA2, DYNC2H1, DYSF, EDA, EDAR, EDN3, EDNRB, EFEMP2, EFNB1, EIF2AK3, EIF2B5, ELK1, EMD, ENO3, ENPP1, EPM2A, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ESPN, ESRRB, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYS, F11, F2, F5, F8, F9, FAH, FAM126A, FAM161A, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FBLN5, FERMT3, FGB, FGD1, FGD4, FH, FHL1, FIG4, FKRP, FKTN, FLNA, FLVCR1, FMR1 (repeats), FOLR1, FOXG1, FOXN1, FOXP3, FRAS1, FREM2, FTCD, FTSJ1, FXN, G6PC, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GAN, GBE1, GCDH, GCH1, GCSH, GDAP1, GDF5, GDI1, GFM1, GHRHR, GJA1, GJB1, GJB2/CX26, GJB3, GJB6/CX30, GJC2, GK, GLA, GLB1, GLE1, GLIS3, GM2A, GNAS, GNE, GNMT, GNPTAB, GNPTG, GNRHR, GNS, GORAB, GP1BA, GP1BB, GPC3, GPR143, GPR179, GRHPR, GRIK2, GRM6, GRXCR1, GTF2H5, GUCY2D, GUSB, HADH, HADHA, HADHB, HAL, HAMP, HAX1, HBA1, HBB, HCCS, HESX1, HEXA, HEXB, HFE, HFE2, HGD, HGF, HGSNAT, HIBCH, HLCS, HMGCL, HMOX1, HP, HPD, HPRT1, HPS1, HPS3, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSPD1, HSPG2, HTRA1, HUWE1, HYAL1, HYLS1, ICOS, IDH3B, IDS, IFNGR1, IFNGR2, IFT80, IGBP1, IGF1, IGHMBP2, IKBKAP, IKBKG, IL12B, IL12RB1, IL1RAPL1, IL1RN, IL2RA, IL2RG, IMPDH1, IMPG2, INPP5E, INSR, INVS/NPHP2, IQCB1, IQSEC2, ISCU, ITGA6, ITGB4, IVD, IYD, KCNJ1, KCNJ11, KCNJ13, KCNV2, KDM5C, KIAA2022, KIF7, L1CAM, LAMA2, LAMA3, LAMB2, LAMB3, LAMC2, LAMP2, LBR, LCA5, LDHA, LDLR, LDLRAP1, LHCGR, LHFPL5, LHX3, LIFR, LIG4, LIPA, LIPH, LMBRD1, LMNA, LOXHD1, LPL, LRAT, LRP2, LRP5, LRPPRC, LRTOMT, LYST, MAK, MAN2B1, MARVELD2, MAT1A, MATN3, MBTPS2, MCCC1, MCCC2, MCOLN1, MCPH1, MECP2, MED12, MED17, MED25, MEFV, MERTK, MESP2, MFRP, MFSD8, MGAT2, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPL, MPV17, MPZ, MRE11, MRPS16, MRPS22, MTHFR, MTM1, MTMR2, MTR, MTRR, MTTP, MUT, MVK, MYD88, MYO15A, MYO3A, MYO5A, MYO7A, NAGA, NAGLU, NAGS, NDP, NDRG1, NDUFA1, NDUFA7, NDUFAF2, NDUFAF4, NDUFAF5, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NEB, NEU1, NEUROG3, NHEJ1, NHLRC1, NHP2, NHS, NKX2-1, NKX2-5, NLGN3, NLGN4X, NLRP7, NMNAT1, NOP10, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NR2E3, NR5A1, NSD1, NSDHL, NSUN2, NTRK1, NUP62, NXF5, NYX, OAT, OCA2, OCRL, OFD1, OPA3, OPHN1, ORAI1, OSTM1, OTC, OTOA, OTOF, OXCT1, P3H1, PAH, PAK3, PALB2, PANK2, PAX3, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH15, PCDH19, PDE6A, PDE6B, PDE6C, PDE6G, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDX1, PDZD7, PEPD, PEX1, PEX10, PEX12, PEX2, PEX26, PEX5, PEX6, PEX7, PFKM, PGK1, PGM1, PHF8, PHGDH, PHKG2, PHYH, PKHD1, PKLR, PLA2G6, PLCE1, PLEC, PLEKHG5, PLG, PLOD1, PLP1, PMM2, PMP22, PNPO, POLG, POLR1C, POMGNT1, POMT1, POMT2, POR, POU3F4, PPT1, PQBP1, PRCD, PRF1, PRKRA, PRODH, PROM1, PROP1, PRPS1, PRSS12, PRX, PSAP, PSAT1, PTEN, PTH1R, PTS, PUS1, PYGM, QDPR, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAD51C, RAG1, RAG2, RAPSN, RARS2, RAX, RDH12, RDX, RELN, REN, RFT1, RGR, RHO, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RP2, RPE65, RPGR, RPGRIP1L, RPL10, RPS6KA3, RS1, RYR1, SACS, SAG, SAMD9, SAMHD1, SBDS, SBF2, SC5D, SCN2A, SCNN1A, SCNN1B, SCNN1G, SCO2, SELENON, SEMA4A, SEPSECS, SERPINA1, SETX, SFTPB, SFTPC, SGCB, SGCD, SGCG, SGSH, SH2D1A, SH3TC2, SHROOM4, SIL1, SIX6, SLC12A3, SLC12A6, SLC16A2, SLC17A5, SLC19A2, SLC22A5, SLC24A1, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC35A1, SLC35C1, SLC35D1, SLC37A4, SLC39A4, SLC3A1, SLC45A2, SLC46A1, SLC5A5, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMARCAL1, SMN1 (MLPA), SMN2, SMPD1, SMS, SNAI2, SNAP29, SOX3, SP110, SPG11, SPG20, SPG7, SRD5A2, SRD5A3, SRPX2, ST3GAL3, ST3GAL5, STAR, STAT1, STIL, STIM1, STRA6, STX11, STXBP2, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYP, TAF1, TAT, TAZ, TBCE, TCAP, TCF4, TCIRG1, TCN2, TECTA, TERT, TFR2, TH, THRA, THRB, TIMM8A, TK2, TLR3, TMC1, TMEM216, TMEM67, TMIE, TMPRSS3, TNFRSF11B, TNNT1, TPO, TPP1, TPRN, TRDN, TREX1, TRIOBP, TRMU, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TSPYL1, TTC37, TTN, TTPA, TUBA1A, TUFM, TUSC3, TYK2, TYMP, TYR, TYRP1, UBA1, UBE2A, UBE3A, UBR1, UGT1A1, UNC13D, UNC93B1, UPF3B, UQCRB, UQCRQ, UROS, USH1C, USH1G, USH2A, USP9X, VDR, VIPAS39, VLDLR, VPS13A, VPS13B, VPS33B, VRK1, VSX2, VWF, WAS, WDR62, WFS1, WHRN, WISP3, WNT10A, WNT3, WNT7A, WRN, XIAP, XPA, XPC, ZDHHC9, ZEB2, ZFYVE26, ZIC3, ZMPSTE24, ZNF41, ZNF469, ZNF674, ZNF711, ZNF81

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