• Dermatologico
  • Diabete
  • Sindrome di Ehlers-Danlos
  • Sistema Endocrino
  • Epilessia
  • Gastroenterologico

Lista dei geni analizzati nel report Dermatologico:

AAGAB,ABCA12,ABCA3,ABCC6,ABHD5,ADAMTS2,AGPAT2,AK2,ALDH18A1,ALDH3A2,ALOX12B,ALOXE3,AP3B1,AP3D1,AQP5,ARHGAP31,ATP2C1,ATP6V0A2,ATP7A,B4GALT7,BAP1,BCS1L,BGN,BLM,BLOC1S3,BLOC1S6,BRCA1,BRCA2,BSCL2,C10ORF11,CBS,CDH3,CDK4,CDKN2A,CDSN,CERS3,CHST14,COL11A1,COL17A1,COL1A1,COL1A2,COL2A1,COL3A1,COL5A1,COL5A2,COL7A1,CTC1,CTSC,CYP4F22,DDB2,DKC1,DLL4,DOCK6,DSE,DSG1,DSG2,DSG4,DSP,DST,DTNBP1,EBP,EDA,EDAR,EDARADD,EDN3,EDNRB,EFEMP2,ELN,ENPP1,EOGT,ERCC1,ERCC2,ERCC3,ERCC4,ERCC5,ERCC6,ERCC8,EVC,EVC2,EXPH5,FBLN5,FBN1,FBN2,FERMT1,FKBP14,FLG,FLNA,GJA1,GJB2,GJB3,GJB4,GJB6,GORAB,GPR143,GRIP1,HOXC13,HPS1,HPS3,HPS4,HPS5,HPS6,HR,IFT122,ITGA3,ITGA6,ITGB4,JUP,KCTD1,KIT,KITLG,KRT1,KRT10,KRT14,KRT16,KRT17,KRT2,KRT5,KRT6A,KRT6B,KRT6C,KRT9,LAMA3,LAMB3,LAMC2,LMNA,LOR,LRP6,LTBP4,LYST,MBTPS2,MC1R,MITF,MLPH,MPLKIP,MYO5A,NF1,NF2,NHP2,NIPAL4,NOP10,NOTCH1,OCA2,PARN,PAX3,PEX7,PHYH,PKP1,PLEC,PLOD1,PNPLA1,POLH,PORCN,POT1,PRKD1,PTCH1,PTEN,PTPN11,PYCR1,RAB27A,RAF1,RBPJ,RECQL4,RMRP,RTEL1,SERPINB7,SFTPB,SFTPC,SLC24A5,SLC27A4,SLC2A10,SLC38A8,SLC39A13,SLC39A4,SLC45A2,SLURP1,SMAD3,SMARCB1,SNAI2,SOX10,SPINK5,SPRED1,STS,SUFU,SUMF1,TERC,TERT,TGFB2,TGFBR1,TGFBR2,TGM1,TGM5,TINF2,TP53,TP63,TRPV3,TSC1,TSC2,TYR,TYRP1,UBR1,USB1,WDR35,WNT10A,WRAP53,WRN,XPA,XPC,ZMPSTE24,ZNF469

 

Lista dei geni analizzati nel report Diabete:

AQP2,AVPR2,CCR5,CTLA4,FOXP3,HLA-DQA1,HLA-DQB1,HLA-DRB1,HNF1A,IL2RA,IL6,INS,ITPR3,OAS1,PTPN22,SUMO4,AVP,ABCC8,ALMS1,ARL6,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,BDNF,CEL,CEP290,EIF2AK3,FOXP3,GCK,GLIS3,GNAS,HNF1A,HNF1B,HNF4A,INS,KCNJ11,LEP,LEPR,MAGEL2,MC4R,MKKS,MKS1,NEUROD1,NEUROG3,NTRK2,PCSK1,PDX1,POMC,PTF1A,RFX6,SDCCAG8,SIM1,TRIM32,TTC8,WDPCP,WFS1

Lista dei geni analizzati nel report sulla Sindrome di Ehlers-Danlos:

ADAMTS2,AEBP1,ATP7A,B3GALT6,B4GALT7,C1R,C1S,COL5A1,COL12A1,DSE,FKBP14,FLNA,PLOD1,PRDM5,SLC39A13,ZNF469,ACTA2,ADAMTS2,AEBP1,ATP7A,B3GALT6,B4GALT7,BGN,C1R,C1S,CBS,CHST14,COL1A1,COL1A2,COL3A1,COL5A2,COL12A1,DCHS1,DSE,FBN1,FBN2,FKBP14,FLCN,FLNA,FOXE3,LOX,LTBP3,MAT2A,MFAP5,MED12,MYH11,MYLK,NOTCH1,PRKG1,PLOD1,PRDM5,SKI,SLC2A10,SLC39A13,SMAD2,SMAD3,SMAD4,TGFB2,TGFB3,TGFBR1,TGFBR2

Lista dei geni analizzati nel report sul Sistema Endocrino:

ABCA1,ABCC8,ABCG5,ABCG8,ACAT1,ACSF3,ADCY3,AGL,AIRE,ALDOA,ALDOB,ALMS1,AMH,AMHR2,ANOS1,AP2S1,APOA1,APOA5,APOB,APOC2,APOC3,APOE,AR,ARL6,ARMC5,ARX,ATRX,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,BCOR,BLK,BMP15,BSND,CASR,CDC73,CDKN1A,CDKN1B,CDKN1C,CDKN2B,CDKN2C,CEP290,CEP41,CHD7,CLCNKB,CLDN16,CLDN19,CNNM2,CNNM4,CREB3L3,CREBBP,CUL4B,CYP11A1,CYP11B1,CYP17A1,CYP19A1,CYP21A2,DHCR7,DHH,DUOX2,DUOXA2,DYNC2H1,DYRK1B,EGF,EIF2AK3,ENO3,EPM2A,ERCC3,FAM111A,FBP1,FGF8,FGFR1,FIG4,FOXE1,FOXL2,FOXP3,FRAS1,FSHR,FXYD2,G6PC,GAA,GALT,GATA4,GATA6,GBE1,GCK,GCM2,GLIS3,GLUD1,GNA11,GNAS,GNRHR,GPIHBP1,GYG1,GYS1,GYS2,HADH,HESX1,HMGCL,HMGCS2,HNF1A,HNF1B,HNF4A,HSD17B3,HSD3B2,IGSF1,IL17RD,INS,INSR,IRF6,KCNA1,KCNJ10,KCNJ11,KISS1R,KLF11,KSR2,LAMP2,LDHA,LDLR,LDLRAP1,LEP,LEPR,LHCGR,LIPA,LMF1,LMNA,LPL,MAGEL2,MAGT1,MAMLD1,MAP3K1,MC2R,MC3R,MC4R,MEN1,MKKS,MKRN3,MKS1,MPV17,MRAP,NEUROD1,NEUROG3,NHLRC1,NIPA2,NKX2-1,NKX2-5,NNT,NOBOX,NR0B1,NR0B2,NR3C1,NR5A1,NTRK2,OXCT1,PAX4,PAX8,PC,PCBD1,PCK1,PCSK1,PCSK9,PDX1,PFKM,PGAM2,PGK1,PGM1,PHF6,PHKA1,PHKA2,PHKB,PHKG2,POLG,POMC,POR,POU1F1,PPARG,PRKAG2,PRKAG3,PRKAR1A,PROK2,PROKR2,PROP1,PTF1A,PTH,PYGL,PYGM,RBCK1,RET,RFX6,RSPO1,SARS2,SDCCAG8,SECISBP2,SIM1,SLC12A3,SLC16A1,SLC16A2,SLC26A4,SLC2A2,SLC37A4,SLC5A5,SOX9,SRD5A2,SRY,STAR,TACR3,TG,THRA,THRB,TPO,TRIM32,TRPM6,TSHB,TSHR,TTC8,UCP2,UCP3,VPS13B,WDPCP,WFS1,WT1,ZFP57,ZFPM2
                 

Lista di geni analizzati nel report sull'Epilessia:

ABAT,ABCC8,ABCD1,ACY1,ADAR,ADGRG1,ADGRV1,ADRA2B,ADSL,AFG3L2,AGA,AHI1,AIFM1,AIMP1,AKT3,ALDH3A2,ALDH4A1,ALDH5A1,ALDH7A1,ALG1,ALG12,ALG13,ALG2,ALG3,ALG6,ALG8,ALG9,AMACR,AMT,ANK3,AP4B1,AP4E1,AP4M1,AP4S1,APOPT1,ARFGEF2,ARG1,ARHGEF15,ARHGEF9,ARL13B,ARSA,ARSB,ARX,ASAH1,ASNS,ASPA,ASPM,ATIC,ATP13A2,ATP1A2,ATP1A3,ATP1A3ATRX,ATP2A2,ATP6AP2,ATP6V0A2,ATPAF2,ATRX,AUH,B4GALT1,BCKDK,BCS1L,BOLA3,BRAF,BRAT1,BRD2,BTD,BUB1B,C12orf57,CACNA1A,CACNA1H,CACNA2D2,CACNB4,CARS2,CASK,CASR,CBL,CC2D1A,CC2D2A,CCDC88C,CCL2,CDKL5,CDKL5CHD2,CENPJ,CEP290,CERS1,CHD2,CHRNA2,CHRNA4,CHRNB2,CLCN2,CLCN4,CLN2,CLN3,CLN5,CLN5CLN6,CLN6,CLN8,CNTN2,CNTN2CPA6,CNTNAP2,COG7,COG8,COL18A1,COL4A1,COQ2,COQ8A,COQ9,COX10,COX15,COX6B1,CPA6,CPT2,CRH,CSF1R,CSTB,CTC1,CTSA,CTSD,CTSF,CUL4B,CYP27A1,D2HGDH,DARS,DARS2,DCX,DDC,DEPDC5,DHCR7,DHFR,DIAPH1,DLD,DNAJC5,DNM1,DNM1DOCK7,DNM1L,DOCK7,DOLK,DPAGT1,DPM1,DPM2,DPYD,DPYS,DYNC1H1,DYRK1A,EARS2,ECHS1,ECM1,EEF1A2,EFHC1,EHMT1,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,EMX2,EPM2A,ETFA,ETFB,ETFDH,ETHE1,FA2H,FAM126A,FAR1,FARS2,FASN,FGD1,FGF12,FGFR3,FH,FKRP,FKTN,FLNA,FOLR1,FOLR1FOXG1,FOXG1,FOXRED1,FRRS1L,FUCA1,GABBR2,GABRA1,GABRB2,GABRB3,GABRD,GABRG2,GAL,GALC,GAMT,GAMTGATM,GATM,GCDH,GCH1,GCSH,GFAP,GFM1,GJC2,GLB1,GLDC,GLI2,GLI3,GLRA1,GLRB,GLUD1,GNAO1,GNB1,GNE,GNS,GOSR2,GPC3,GPHN,GRIA3,GRIK2,GRIN1,GRIN2A,GRIN2B,GRN,GTPBP3,HACE1,HCN1,HCN1HNRNPU,HCN4,HDAC4,HECW2,HEPACAM,HEXA,HEXB,HGSNAT,HIBCH,HNRNPU,HPD,HRAS,HSD17B10,HSPD1,HTRA1,HTT,IBA57,IDS,IER3IP1,IQSEC2,ITPA,JMJD1C,KANSL1,KCNA1,KCNA2,KCNAB2,KCNB1,KCNB1KCNC1,KCNC1,KCND2KCNH5,KCNH1,KCNH2,KCNJ10,KCNJ11,KCNMA1,KCNQ2,KCNQ3,KCNT1,KCNV2,KCTD7,KCTD7LGI1,KDM5C,KDM6A,KIF1A,KIF1BP,KMT2D,KPNA7,KRAS,L2HGDH,LAMA2,LARGE1,LBR,LGI1,LIAS,LMNB1,LMNB2,LRPPRC,LYRM7#,MAGI2,MAP2K1,MAP2K2,MAPK10,MARS2,MBD5,MCOLN1,MCPH1,MDH2,ME2,MECP2,MED12,MED17,MEF2C,MFSD8,MGAT2,MLC1,MOCS1,MOCS2,MOGS,MPDU1,MRPL44,MTFMT,MTHFR,MTOR,NACC1,NAGLU,NDE1,NDUFA1,NDUFA2,NDUFAF5,NDUFAF6,NDUFS1,NDUFS2,NDUFS3,NDUFS4,NDUFS7,NDUFS8,NDUFV1,NECAP1,NEDD4L,NEDD4LNEXMIF,NEU1,NEXMIF,NF1,NFU1,NGLY1,NHLRC1,NIPBL,NOTCH3,NPC1,NPC2,NPHP1,NPRL3,NR2F1,NRXN1,NSD1,NTNG1,NUBPL,OFD1,OPHN1,PACS1,PAFAH1B1,PAK3,PANK2,PC,PCDH19,PCNT,PDHA1,PDSS2,PEX1,PEX12,PEX14,PEX2,PEX26,PEX3,PEX5,PEX6,PEX7,PGK1,PHF6,PIGA,PIGAPIGN,PIGG,PIGN,PIGO,PIGQ,PIGT,PIGV,PIK3AP1,PLA2G6,PLCB1,PLP1,PMM2,PNKD,PNKP,PNPO,POLG,POLR3A,POLR3B,POMGNT1,POMT1,POMT2,PPP3CA,PPT1,PPT1PRICKLE1,PQBP1,PRDM8PRICKLE2,PRICKLE1,PRICKLE2,PRIMA1,PRODH,PRRT2,PSAP,PTCH1,PTPN11,PTS,PURA,PYCR2#,QARS,QDPR,RAB39B,RAB3GAP1,RAI1,RARS,RARS2,RBFOX1,RBFOX3,RELN,RFT1,RMND1,RNASEH2A,RNASEH2B,RNASEH2C,RNASET2,RNF216,ROGDI,RPGRIP1L,RYR3,SAMHD1,SATB2SCARB2,SCARB2,SCN10A,SCN1A,SCN1B,SCN2A,SCN3A,SCN4A,SCN5A,SCN8A,SCN9A,SCO1,SCO2,SDHA,SDHAF1,SERAC1,SERPINI1,SERPINI1SGCE,SETBP1,SETD2,SGSH,SHH,SHOC2,SIK1,SIX3,SLC12A5,SLC13A5,SLC17A5,SLC19A3,SLC1A3,SLC25A1,SLC25A12,SLC25A15,SLC25A19,SLC25A22,SLC2A1,SLC2A1SLC35A2,SLC35A1,SLC35A2,SLC35A3,SLC35C1,SLC39A8,SLC46A1,SLC4A10,SLC6A1,SLC6A8,SLC9A6,SMARCA2,SMC1A,SMC3,SMS,SNAP25,SNAP25SRPX2,SNORD118,SNX27,SOX10,SPATA5,SPRED1,SPTAN1,SPTAN1ST3GAL5,SRGAP2,ST3GAL3,ST3GAL5,STIL,STRADA,STX1B,STXBP1,SUMF1,SUOX,SURF1,SYN1,SYNGAP1,SYNJ1,SYP,SZT2,SZT2TBC1D24,TACO1,TAF1,TBC1D24,TBCD,TBCE,TBCK,TBL1XR1,TBX1,TCF4,TMEM67,TMEM70,TNK2,TPK1,TPP1,TREX1,TSC1,TSC2,TSEN2,TSEN34,TSEN54,TTC19,TUBA1A,TUBA8,TUBB2A,TUBB2B,TUBB4A,TWNK,UBA5,UBE2A,UBE3A,UNC80,VPS13A,VPS13B,WDR26,WDR45,WWOX,WWOXZDHHC9,YY1,ZEB2,ZFYVE26,ZIC2

Lista dei geni analizzati nel report Gastroenterologico:

ABCB11,ABCB4,ABCC2,ADAM17,AHI1,AKR1D1,ANKS6,APOA5,APOC2,ARL13B,ARL6,ATP8B1,B9D1,B9D2,BAAT,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,BDNF,C5ORF42,CC2D2A,CELSR3,CEP164,CEP290,CEP41,CFTR,CHD7,CLMP,CPA1,CREB3L3,CTRC,CYP27A1,CYP7B1,DCDC2,DGAT1,DGUOK,DHCR7,EDN3,EDNRB,EFTUD2,EPCAM,FAH,FANCB,FANCC,FOXP3,GANAB,GLI3,GLIS2,GPIHBP1,GUCY2C,HSD3B7,IL10,IL10RA,IL10RB,IL21,INPP5E,INVS,IQCB1,JAG1,KIF1BP,KIF7,L1CAM,LCT,LIPA,LMF1,LRP5,MID1,MITF,MKKS,MKS1,MVK,MYCN,MYO5B,NCF2,NEK8,NEUROG3,NOTCH2,NPC1,NPC2,NPHP1,NPHP3,NPHP4,NR1H4,NRG1,NRTN,OFD1,PAX3,PEX1,PEX10,PEX12,PEX2,PEX26,PEX5,PEX6,PHOX2B,PKD1,PKD2,PKD2,PKHD1,PRKCSH,PRSS1,PTF1A,RET,RFX6,RMRP,RPGRIP1L,SAR1B,SEC63,SERPINA1,SI,SKIV2L,SLC10A2,SLC25A13,SLC26A3,SLC5A1,SLC9A3,SMPD1,SOX10,SOX2,SPINK1,SPINT2,STX3,TCTN1,TCTN2,TCTN3,TJP2,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,TRIM32,TRMU,TTC21B,TTC37,TTC7A,TTC8,UBR1,UGT1A1,VIPAS39,VPS33B,WDR19,WDR35,XIAP,ZEB2,ZNF423

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