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GeneScreen® Easy

GeneScreen® è un carrier screening test che permette di eseguire un’analisi multipla di malattie genetiche ereditarie.
Il test GeneScreen® Easy prevede lo screening di un ristretto numero di geni, identificando le malattie genetiche a trasmissione ereditaria più comuni nella popolazione italiana, e clinicamente più rilevanti.

Geni/Polimorfismi:

ABCC8, ABCD1, ACAD9, ACADM, ACADS, ACADVL, ACAT1, ACOX1, ADA, ADAMTS2, AGA, AGL, AGPS, AGXT, AIRE, ALDOB, ALG6, ALMS1, ALPL, AMT, AR, ARG1, ARSA, ARSB, ARSE, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7A, ATP7B, ATRX, BBS1, BBS10, BBS12, BBS2, BCHE, BCKDHA, BCKDHB, BCS1L, BLM, BSND, BTD, BTK, CAPN3, CBS, CC2D2A, CD40LG, CDH23, CEP290, CERKL, CFTR, CHM, CHRNE, CLN3, CLN6, CLN8, CLRN1, CNGB3, COL17A1, COL4A3, COL4A4, COL4A5, COL7A1, CPS1, CPT2, CRB1, CRTAP, CSTB, CTNS, CTSD, CTSK, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, DBT, DCLRE1C, DHCR7, DHDDS, DKC1, DLD, DMD, DNAH5, DNAI1, DNAI2, DOK7, DPYD, DYSF, EDA, EDAR, EIF2AK3, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMD, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYS, F11, F8, F9, FAH, FANCA, FANCC, FANCG, FH, FKRP, FKTN, FMR1 (repeats), G6PC, G6PD, GAA, GALC, GALK1, GALNS, GALT, GAMT, GBE1, GCDH, GFM1, GJB1, GJB2/CX26, GJB6/CX30, GLA, GLB1, GLE1, GNE, GNPAT, GNPTAB, GNS, GRHPR, GUSB, HADHA, HADHB, HAX1, HBA1, HBB, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HLCS, HMGCL, HPS1, HPS3, HSD17B4, HSD3B2, HYLS1, IDS, IKBKAP, IL2RG, ISPD, IVD, KCNJ11, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LCA5, LHCGR, LHX3, LIFR, LIPA, LIPH, LOXHD1, LPL, LRPPRC, LYST, MAN2B1, MCCC1, MCCC2, MCOLN1, MECP2, MED17, MEFV, MFSD8, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MPI, MPL, MPV17, MTHFR, MTM1, MTTP, MUSK, MUT, MYO7A, NAGLU, NAGS, NDUFS6, NEB, NPC1, NPC2, NPHP1, NPHS1, NPHS2, NR2E3, NTRK1, OCRL, OPA3, OTC, PAH, PANK2, PC, PCCA, PCCB, PCDH15, PDHA1, PDHB, PEX1, PEX10, PEX12, PEX2, PEX26, PEX6, PEX7, PFKM, PHGDH, PKHD1, PLA2G6, PMM2, POLG, POMGNT1, POMT1, POMT2, PPT1, PROP1, PRPS1, PSAP, PTS, PUS1, PYGM, RAB23, RAG1, RAG2, RAPSN, RARS2, RDH12, RMRP, RPE65, RPGRIP1L, RS1, SACS, SAMHD1, SBDS, SEPSECS, SERPINA1, SGCB, SGCG, SGSH, SLC12A3, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A4, SLC37A4, SLC39A4, SLC6A8, SMN1 (MLPA), SMPD1, STAR, SUMF1, TAT, TCIRG1, TFR2, TH, TMEM216, TPP1, TREX1, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TTC37, TTPA, TYMP, TYR, UGT1A1, USH1C, USH2A, VPS13A, VPS13B, VRK1, WAS, WNT10A, XPA, XPC, ZFYVE26

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