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PrenatalScreen® Standard

PrenatalScreen® Standard è un test diagnostico che permette lo studio di un ampio numero di geni e di oltre 1.000 malattie genetiche, tra cui quelle più frequenti nella popolazione italiana e clinicamente più rilevanti.

Geni/Polimorfismi:

AAAS, ABCA12, ABCA3, ABCA4, ABCD1, ACAD9, ACADM, ACADVL, ACAN, ACAT1, ACOX1, ACSL4, ACTG1, ACY1, ADA, ADAMTS13, ADAMTSL2, ADAR, ADCK3, ADGRV1/GPR98, ADSL, AGL, AGPS, AHI1, AICDA, AIFM1, AIPL1, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, AMACR, AMT, AP1S2, AP3B1, APTX, AR, ARG1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARSA, ARSB, ARSE, ARX, ASL, ASPA, ASPM, ASS1, ATM, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATPAF2, ATR, ATRX, AUH, B4GALT1, BBS1, BBS10, BBS2, BBS9, BCKDHA, BCKDHB, BCOR, BCS1L, BEST1, BLM, BRAF, BRWD3, BSND, BTD, BTK, CA2, CA4, CAPN3, CASK, CBS, CC2D1A, CC2D2A, CD3D, CD3E, CD3G, CD40, CD40LG, CDH23, CDKL5, CDKN1C, CEP290, CEP41, CFC1, CFTR, CHD7, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CITED2, CLCN7, CLDN14, CLN3, CLN5, CLN6, CLN8, CLRN1, COCH, COG1, COG4, COG5, COG6, COG7, COG8, COL11A1, COL11A2, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, COL7A1, COL9A1, COMP, COQ2, COQ9, COX10, COX15, COX6B1, CPS1, CPT1A, CPT2, CRADD, CRB1, CRBN, CRELD1, CRTAP, CRX, CRYM, CTNS, CTSD, CUL4B, CYP11A1, CYP11B1, CYP17A1, CYP27A1, CYP27B1, DARS2, DBT, DCLRE1C, DCX, DDB2, DDC, DFNA5, DGUOK, DHCR24, DHCR7, DHDDS, DIABLO, DIAPH1, DKC1, DLAT, DLD, DLL3, DMD, DMP1, DNAH5, DNAI1, DNAJC19, DNMT3B, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM3, DPYD, DUOX2, DUOXA2, DYNC2H1, DYSF, EDN3, EDNRB, EFNB1, EIF2AK3, EMX2, ENPP1, EPCAM, EPM2A, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC2, F8, F9, FAH, FAM126A, FAM20C, FANCA, FANCB, FANCC, FANCG, FASTKD2, FERMT3, FGD4, FGFR2, FGFR3, FH, FKRP, FLNA, FMN2, FOLR1, FOXG1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FSCN2, FTSJ1, FUCA1, G6PC, G6PC3, GAA, GALC, GALE, GALK1, GALT, GAMT, GATA4, GATA6, GBA, GBE1, GCDH, GCSH, GDAP1, GDF1, GDI1, GFM1, GIPC3, GJA1, GJB1, GJB2/CX26, GJB3, GJB6/CX30, GJC2, GLA, GLB1, GLDC, GLE1, GLI2, GLIS2, GNPTAB, GPC3, GPHN, GPR56, GRHL2, GRIA3, GRIK2, GRIN2B, GSS, GTF2H5, GUCA1B, GUCY2D, GUSB, HADH, HADHA, HADHB, HAMP, HARS, HAX1, HBA1, HBA2, HBB, HCCS, HDAC8, HEXA, HEXB, HFE2/HJV, HGSNAT, HIBCH, HLCS, HMGCL, HPD, HPRT1, HPS1, HRAS, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSPG2, HUWE1, ICOS, IDS, IDUA, IFNGR1, IFNGR2, IFT80, IGBP1, IGHMBP2, IKBKAP, IKBKG, IL1RAPL1, IL1RN, IL2RG, IMPDH1, INPP5E, INVS/NPHP2, IQCB1, IQSEC2, ISPD, ITGA6, ITGB4, IVD, IYD, JAG1, JAK3, KCNJ1, KCNJ10, KCNQ4, KDM5C, KDM6A, KIAA2022, KIF1A, KLHL7, KRAS, L1CAM, LAMA2, LAMA3, LAMB1, LAMB2, LAMB3, LAMC2, LAMP2, LARGE, LBR, LEPRE1, LHX3, LIFR, LIG4, LRP2, LRPPRC, LYST, MAGT1, MAN1B1, MAN2B1, MAP2K1, MAP2K2, MBD5, MBTPS2, MCOLN1, MECP2, MED12, MED13L, MED17, MED23, MEF2C, MEFV, MFSD8, MGAT2, MID1, MIR96, MITF, MKKS, MKS1, MLC1, MLL2, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MRPS16, MRPS22, MTHFR, MTM1, MTMR2, MUT, MVK, MYH14, MYO1A, MYO5A, MYO6, MYO7A, NAGLU, NAGS, NDP, NDRG1, NDST1, NDUFA1, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NEB, NEK1, NEK8, NEU1, NEUROG3, NF1, NF2, NHEJ1, NHLRC1, NHS, NIPBL, NKX2-5, NKX2-6, NMNAT1, NODAL, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR5A1, NRAS, NRL, NSD1, NSDHL, NSUN2, NUP62, OCRL, OFD1, OPA3, OPHN1, OSTM1, OTC, OTOA, OTOF, OXCT1, PAFAH1B1, PAH, PAK3, PANK2, PAX3, PAX8, PC, PCBD1, PCCA, PCCB, PCDH15, PCDH19, PDE6A, PDE6B, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGM1, PHF6, PHF8, PHGDH, PHYH, PKHD1, PLCB1, PLCE1, PLDN, PLEC, PLEKHG5, PLOD1, PLP1, PMM2, PNKP, PNP, PNPO, POLR1C, POLR3A, POMGNT1, POMT1, POMT2, POR, POU4F3, PPIB, PPT1, PQBP1, PRF1, PROP1, PRPF3, PRPF31, PRPF8, PRPH2, PRPS1, PRSS12, PRX, PSAP, PTH1R, PTPN11, PTS, QDPR, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAF1, RAG1, RAG2, RAPSN, RARS2, RBM8A, RDH12, RELN, RFT1, RHO, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS6KA3, RRM2B, SACS, SAMHD1, SBDS, SBF2, SC5D, SCO1, SCO2, SDCCAG8, SDHAF1, SEMA3E, SEMA4A, SFTPB, SFTPC, SGCA, SGCB, SGCG, SGSH, SH3TC2, SHH, SHOC2, SHROOM4, SIL1, SIX1, SIX3, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC17A8, SLC22A5, SLC25A15, SLC25A20, SLC25A22, SLC26A2, SLC26A3, SLC26A4, SLC35A1, SLC35C1, SLC35D1, SLC37A4, SLC5A5, SLC6A8, SLC9A6, SMARCA4, SMARCB1, SMC1A, SMC3, SMN1, SMPD1, SMS, SNAP29, SNRNP200, SOS1, SOX10, SOX9, SP110, SPINT2, SRD5A2, SRD5A3, SRPX2, ST3GAL3, ST3GAL5, STAR, STRA6, STX11, STXBP2, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYP, TACO1, TAT, TBCE, TBX1, TBX20, TBX5, TCF4, TCIRG1, TCOF1, TECTA, TG, TGM1, TH, THRA, TIMM8A, TK2, TLL1, TMC1, TMEM165, TMEM216, TMEM67, TMEM70, TNFRSF11B, TNNT1, TOPORS, TPO, TPP1, TRAPPC9, TRIM32, TRIM37, TRIP11, TSC1, TSC2, TSEN2, TSEN34, TSFM, TSHB, TSPAN7, TSPYL1, TTC21B, TTI2, TTPA, TUBA1A, TUBB2B, TUFM, TUSC3, TWIST1, TYK2, TYMP, UBA1, UBE2A, UBE3A, UBR1, UNC13D, UNG, UPF3B, UQCRB, UQCRQ, UROS, USH1C, USH1G, USH2A, USP9X, VDR, VIPAR, VLDLR, VPS13B, VPS33B, VRK1, WDR19, WFS1, WNT3, WNT7A, XPA, XPC, ZDHHC15, ZDHHC9, ZEB2, ZIC2, ZIC3, ZMPSTE24, ZNF469, ZNF711, ZNF81

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