A sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular de doenças hereditárias e tornou-se uma abordagem essencial à prática clínica diária em múltiplas especialidades médicas.

A Genetyca-ICM by Atrys disponibiliza um conjunto alargado de painéis dirigidos e baseados em exoma, garantindo uma maior sensibilidade e especificidade para cada teste.


Enquanto que os painéis dirigidos permitem uma melhor cobertura dos genes incluídos em cada painel, principalmente no caso de existirem pseudogenes ou regiões de elevada homologia, os painéis baseados em exoma permitem uma análise mais alargada e personalizada assim como reanálise e/ou alargamento de acordo com a evolução clínica.


  • Acidose tubular renal (Painel NGS de 52 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Anomalias congénitas renais e do trato urinário (CAKUT) (Painel NGS de 90 genes)
  • Doença renal poliquística (Painel NGS de 47 genes)
  • Exoma renal (Painel NGS de 920 genes)
  • Glomeruloesclerose segmentar e focal (Painel NGS de 71 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Hemocromatose hereditária (Painel NGS de 11 genes)
  • Hipomagnesemia (Painel NGS de 25 genes)
  • Nefrolitíase (Painel NGS de 37 genes)
  • Nefronoftise (Painel NGS de 70 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Síndrome de Alport (Painel NGS de 11 genes)
  • Síndrome de Barbet-Biedl (Painel NGS de 31 genes)
  • Síndrome de Bartter (Painel NGS de 26 genes)
  • Síndrome de Joubert e Meckel (Painel NGS de 38 genes)
  • Síndrome hemolítica urémica (Painel NGS de 14 genes)
  • Síndrome nefrótico (Painel NGS de 96 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Tubulopatias renais (Painel NGS de 83 genes)
Acidose tubular renal (Painel NGS de 52 genes – inclui análise dos 37 genes do DNA mitocondrial)

ATP6V0A4 , ATP6V1B1 , CA2 , CAD , CLDN16 , CPT1A , JAG1 , MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, NOTCH2 , PC , RMND1 , SLC4A1 , SLC4A4 , UQCC2 , VIPAS39 , VPS33B

Anomalias congénitas renais e do trato urinário (CAKUT) (Painel NGS de 90 genes)

ACE, ACTA2, ACTG2, AGT, AGTR1, ANOS1, BICC1, BMP4, BMP7, BSND, CCNQ, CDC5L, CHD1L, CHD7, CHRM3, COX10, DACT1, DLG3, DSTYK, EYA1, FANCB, FAT4, FGF20, FGFR2, FOXC1, FOXC2, FOXP1, FRAS1, FREM1, FREM2, GATA3, GDNF, GLI2, GLI3, GREB1L, GREM1, GRIP1, HAAO, HCN3, HNF1B, HOXA13, HOXA4, HOXB6, HPSE2, ITGA8, KIT, KYNU, LIFR, LRIG2, LRP4, MUC1, MYH11, NEK8, NIPBL, NPHP3, NRIP1, OCRL, PAX2, PBX1, PUF60, REN, RET, ROBO1, ROBO2, RPGRIP1L, RRM2B, SALL1, SHH, SIX1, SIX2, SIX5, SLIT2, SMARCA4, SOX11, SOX17, SPRY1, SRGAP1, TBC1D1, TBX18, TNXB, TRAP1, TSHZ3, UMOD, UPK2, UPK3A, VIPAS39, VPS33B, VWA2, WNT4, WT1

Doença renal poliquística (Painel NGS de 47 genes)

ALG8, ANKS6, BICC1, CEP164, CEP290, CEP83, CEP89, COL4A1, CRB2, DCDC2, DICER1, DNAJB11, DZIP1L, ETFA, GANAB, GLIS2, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5, MAPKBP1, MUC1, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD2, PKHD1, PMM2, PRKCSH, RPGRIP1L, SDCCAG8, SEC61A1, SEC63, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR19, ZNF423

Exoma renal (Painel NGS de 920 genes)

IARS1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFNG, IFT122, IFT140, IFT172, IFT27, IFT43, IFT57, IFT80, IGF2, IGHMBP2, IKZF1, IL10, IL17F, IL17RA, IL17RC, IL17RD, IL1RAPL1, IL23R, IL2RG, IL6, IL7R, ILK, INCENP, INF2, INPP5E, INPPL1, INS, INSL3, INSR, INTU, INVS, IQCB1, IQSEC2, IRF1, IRF5, ISCU, ITGA2, ITGA2B, ITGA3, ITGA6, ITGA8, ITGB1, ITGB3, ITGB4, ITPR3, ITSN1, ITSN2, IVD, JAG1, JAM3, KANK2, KANK4, KANSL1, KAT2B, KAT6A, KAT6B, KCNA1, KCNC3, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ18, KCNJ5, KCNK5, KCNQ1, KCTD1, KDM5B, KDM6A, KIAA0586, KIAA0753, KIF14, KIF1A, KIF1B, KIF26B, KIF5A, KIF7, KIFBP, KISS1R, KITLG, KLF11, KLF6, KLHL3, KLHL40, KLHL41, KLHL7, KLLN, KMT2A, KMT2D, KNG1, KNL1, KRAS, KRT17, KRT18, KRT8, KYNU, L2HGDH, LAGE3, LAMA5, LAMB2, LAMC1, LARGE1, LCAT, LDHA, LDHD, LDLR, LDLRAP1, LEMD3, LETM1, LFNG, LGR4, LIFR, LIG4, LIPN, LIPT2, LMBRD1, LMNA, LMNB1, LMNB2, LMO7, LMOD1, LMOD3, LMX1B, LONP1, LPIN1, LPIN2, LRIG2, LRP2, LRP4, LRP5, LRRK2, LTBP4, LYZ, LZTFL1, MAB21L2, MAD2L2, MAFB, MAGED2, MAGI2, MAMLD1, MANBA, MAP2K1, MAP2K2, MAP3K1, MAP3K4, MAP3K7, MAPK15, MAPKBP1, MAPRE2, MAPT, MASP1, MASP2, MAX, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCM5, MCPH1, MDH2, MDM2, MECP2, MED12, MED25, MEFV, MEGF8, MEN1, MEOX1, MESP2, MET, MFSD2A, MGME1, MICOS13, MID1, MID2, MINPP1, MITF, MKKS, MKS1, MLH1, MLXIPL, MMAA, MMAB, MMACHC, MMADHC, MMP14, MMP2, MMP9, MMUT, MNX1, MOCOS, MOCS1, MOCS2, MORC2, MPC1, MRAP, MRPS2, MRPS22, MSN, MTFMT, MTM1, MTMR14, MTOR, MTR, MTRR, MUC1, MVK, MXRA5, MYCN, MYCT1, MYD88, MYH11, MYH7B, MYH9, MYLK, MYMK, MYO1E, MYO5B, MYRF, NAA10, NADK2, NAGA, NAGLU, NARS2, NAT10, NAT8, NBN, NCAPD3, NCAPG2, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECTIN1, NEK1, NEK8, NEU1, NEUROD1, NEXMIF, NF1, NFIA, NGLY1, NHP2, NIPA1, NIPAL4, NIPBL, NKX2-1, NLRP3, NME1, NNT, NOD2, NODAL, NOP10, NOS3, NOTCH2, NOTCH3, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPM1, NPNT, NR0B1, NR2F2, NR3C2, NR4A2, NR5A1, NRAS, NRIP1, NSD1, NSD2, NSDHL, NSMCE2, NSMF, NSUN2, NT5C3A, NUBPL, NUMA1, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, NXF5, OBSL1, OCLN, OCRL, ODAD2, OFD1, OGDH, OGG1, OGT, OPA3, OPLAH, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTC, OXCT1, PAFAH1B1, PAH, PAK3, PALB2, PANK2, PARN, PARS2, PAX1, PAX2, PAX4, PAX6, PBX1, PC, PCCA, PCCB, PCK1, PCK2, PCNT, PCSK1, PCSK5, PCSK9, PDCD1, PDE1A, PDE4D, PDE6D, PDGFB, PDGFRB, PDHA2, PDPK1, PDSS2, PDX1, PECAM1, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM3, PHB, PHC1, PHEX, PHGDH, PHKA1, PHOX2B, PHYH, PIAS1, PIEZO1, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGP, PIGR, PIGT, PIGV, PIGW, PIGY, PIK3C2A, PIK3CA, PIK3R2, PIK3R5, PINK1, PITX2, PKD1, PKD2, PKHD1, PLA2R1, PLCD1, PLCE1, PLCG2, PLEC, PLG, PLOD1, PLOD2, PLP1, PLVAP, PMM2, PNKP, PNP, PNPLA6, PODXL, POGZ, POLA1, POLE, POLG, POLG2, POLR3A, POMT1, POMT2, POR, PORCN, POU3F4, POU6F2, PPARG, PPOX, PPP1R15B, PPP2R3C, PPP3CA, PQBP1, PRCC, PRDM16, PRDM8, PRDX1, PREPL, PRKAG2, PRKAR1A, PRKCD, PRKCSH, PRNP, PRODH, PROK2, PROKR2, PRPS1, PSAP, PSMD12, PSPH, PSTPIP1, PTCH1, PTCHD1, PTDSS1, PTEN, PTH1R, PTPN11, PTPN22, PTPRO, PUF60, PYCR2, PYGM, RAB18, RAB23, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAC2, RAD21, RAF1, RAG1, RAG2, RAI1, RARA, RARB, RBBP8, RBM10, RBM48, RBM8A, RBPJ, RECQL4, REEP1, REEP2, REN, RERE, REST, RETREG1, RFWD3, RFX5, RFXANK, RFXAP, RHOXF2B, RIN2, RIPK4, RIPPLY2, RLIM, RMND1, RNF139, RNF168, ROBO1, ROBO2, ROR2, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPL11, RPL15, RPL18, RPL26, RPL27, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RRM2B, RSPO1, RSPO2, RTEL1, RTN2, RYR1, SACS, SALL1, SALL4, SAMD9, SARS2, SASS6, SBDS, SBF1, SC5D, SCARB2, SCLT1, SCN2A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SDR9C7, SEC23B, SEC61A1, SEC63, SELE, SELL, SEMA3A, SEMA3E, SEMA4A, SERAC1, SERPINA1, SERPINA2, SERPINF2, SERPINH1, SETBP1, SETD1A, SETD2, SETD5, SETX, SF3B4, SFTPC, SGCB, SGPL1, SGSH, SHANK3, SHH, SHOC2, SHPK, SHROOM3, SI, SIGMAR1, SIK1, SIN3A, SIX1, SIX2, SIX3, SIX5, SIX6, SKI, SLC12A1, SLC12A3, SLC13A5, SLC16A1, SLC16A12, SLC16A2, SLC17A1, SLC17A3, SLC17A5, SLC19A2, SLC1A1, SLC20A2, SLC22A12, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A23, SLC25A4, SLC26A1, SLC26A4, SLC29A3, SLC2A1, SLC2A12, SLC2A2, SLC2A9, SLC30A9, SLC34A1, SLC34A3, SLC35A1, SLC35A2, SLC35F1, SLC36A2, SLC37A4, SLC3A1, SLC46A1, SLC49A4, SLC4A1, SLC4A4, SLC52A2, SLC5A1, SLC5A2, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3R1, SLC9A6, SLIT2, SLIT3, SLITRK6, SLURP1, SLX4, SMAD3, SMAD4, SMARCA4, SMARCAL1, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMCHD1, SMO, SMOC1, SMS, SNAI2, SNAP29, SNCA, SNCAIP, SNRPB, SON, SOS1, SOX10, SOX11, SOX17, SOX18, SOX2, SOX4, SOX9, SP110, SPART, SPAST, SPECC1L, SPG11, SPG7, SPINK5, SPINT2, SPRY2, SPRY4, SQSTM1, SRC, SRCAP, SRD5A2, SRGAP1, SRP54, SRY, SSR4, STAG3, STAMBP, STAR, STAT1, STAT3, STAT4, STAT5B, STEAP2, STIL, STK11, STRA6, STRADA, STS, STUB1, STX16, STXBP1, SUCLA2, SUCLG1, SUFU, SUGCT, SULT2B1, SUMF1, SUOX, SURF1, SYNPO, SYP, TACO1, TACR3, TADA2A, TAF13, TAFAZZIN, TALDO1, TANGO2, TAPT1, TAT, TBC1D1, TBC1D20, TBC1D24, TBC1D8B, TBCD, TBCK, TBL1XR1, TBP, TBX1, TBX15, TBX18, TBX22, TBX3, TBX6, TBXT, TCN2, TCTN1, TCTN2, TCTN3, TDO2, TERT, TFAP2A, TFE3, TGFB1, TGIF1, TGM1, THBD, THOC6, TIMM50, TIMMDC1, TINAG, TINF2, TK2, TLR9, TMCO1, TMEM107, TMEM126B, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM260, TMEM67, TMEM70, TMEM94, TNFRSF11A, TNFRSF11B, TNFSF18, TNS1, TNS2, TNS3, TNXB, TOP1MT, TP53, TP53RK, TP63, TPRKB, TRAF3IP1, TRAF3IP2, TRAIP, TRAP1, TREX1, TRIM32, TRIM37, TRIO, TRIP11, TRIP13, TRNT1, TRPC5, TRPC6, TRPS1, TRPV4, TRPV5, TRPV6, TRRAP, TSC1, TSC2, TSHZ3, TSPAN7, TSR2, TTC21B, TTC37, TTC8, TTR, TWIST2, TWNK, TXNDC15, TXNL4A, TXNRD2, TYROBP, UBA1, UBAP1, UBE2A, UBE2T, UBR1, UMOD, UMPS, UPB1, UPF3B, UPK2, UPK3A, UPK3B, UQCC2, UROC1, UROS, USB1, USP27X, USP8, USP9X, VAC14, VANGL1, VANGL2, VCP, VDR, VHL, VIPAS39, VPS11, VPS13A, VPS33A, VPS33B, VPS35, VTN, VWA2, WAS, WASHC5, WDPCP, WDR19, WDR35, WDR4, WDR62, WDR73, WFS1, WHAMM, WIPF1, WNK1, WNK4, WNT11, WNT3, WNT4, WNT5A, WNT7A, WNT9B, WRAP53, WRN, WT1, WWOX, XDH, XPA, XPC, XPNPEP3, XPO5, XRCC2, XRCC4, XYLT1, XYLT2, YAP1, YY1AP1, ZAP70, ZBTB16, ZBTB24, ZEB2, ZFP57, ZFPM2, ZFYVE26, ZIC2, ZIC3, ZMPSTE24, ZNF12, ZNF148, ZNF17, ZNF423, ZNF543, ZNF592, ZNF687, ZNF711, ZPR1

Glomeruloesclerose segmentar e focal (Painel NGS de 71 genes – inclui análise dos 37 genes do DNA mitocondrial)

ACTN4, ANLN, APOL1, ARHGAP24, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, FBXW7, INF2, LAMA5, LAMB2, LMNA, LMX1B, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYH9, MYO1E, NPHP1, NPHP4, NPHS1, NPHS2, NUP107, NXF5, PAX2, PDSS2, PLCE1, SMARCAL1, SYNPO, TRPC6, TTC21B, WT1

Hemocromatose hereditária (Painel NGS de 11 genes)

BMP2, CP, FTH1, FTL, HAMP, HFE, HJV, SLC11A2, SLC40A1, TFR2, TH

Hipomagnesemia (Painel NGS de 25 genes)

BSND, CASR, CLCNKB, CLDN16, CLDN19, CNNM1, CNNM2, CNNM4, EGF, EGFR, FAM111A, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, MMGT1, NIPA2, PCBD1, SARS2, SLC12A3, SLC41A2, SLC41A3, TRPM6, TRPM7

Nefrolitíase (Painel NGS de 37 genes)

ADCY10, AGXT, ALPL, APRT, ATP6V0A4, ATP6V1B1, CA2, CASR, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GNA11, GPHN, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, MOCOS, MOCS1, OCRL, PREPL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, UMOD, VDR, XDH

Nefronoftise (Painel NGS de 70 genes – inclui análise dos 37 genes do DNA mitocondrial)

AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, IFT172, INVS, IQCB1, MAPKBP1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SCLT1, SDCCAG8, TCTN1, TMEM138, TMEM216, TMEM237, TMEM67, TRAF3IP1, TTC21B, WDR19, XPNPEP3, ZNF423

Síndrome de Alport (Painel NGS de 11 genes)

CD151, CFHR5, COL4A3, COL4A4, COL4A5, COL4A6, FN1, LMX1B, MYH9, MYO1E, NPHS2

Síndrome de Barbet-Biedl (Painel NGS de 31 genes)

ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CEP164, CEP19, CEP290, CPE, IFT172, IFT27, IFT74, LZTFL1, MKKS, MKS1, NPHP1, PNPLA6, SCAPER, SDCCAG8, TMEM67, TRIM32, TTC21B, TTC8, WDPCP

Síndrome de Bartter (Painel NGS de 26 genes)

ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, GNA11, HSD11B2, KCNJ1, KCNJ10, KLHL3, MAGED2, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC4A1, SLC4A4, WNK1, WNK4

Síndrome de Joubert e Meckel (Painel NGS de 38 genes)

AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1, CSPP1, IFT172, INPP5E, KATNIP, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, PIBF1, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

Síndrome hemolítica urémica (Painel NGS de 14 genes)

ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI, DGKE, LMNA, MMACHC, THBD

Síndrome nefrótico (Painel NGS de 96 genes – inclui análise dos 37 genes do DNA mitocondrial)

ACTN4, ANLN, APOL1, ARHGAP24, ARHGDIA, AVIL, CD2AP, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, FAT1, FN1, INF2, ITGA3, ITGB4, KANK1, KANK2, LAGE3, LAMB2, LMX1B, MAFB, MAGI2, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYH9, MYO1E, NEU1, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OSGEP, PAX2, PDCN, PDSS2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TBC1D8B, TP53RK, TPRKB, TRPC6, TTC21B, WDR4, WDR73, WT1, XPO5

Tubulopatias renais (Painel NGS de 83 genes)

ABCG2, ALPL, AP2S1, AQP2, ATP6V0A4, ATP6V1B1, AVPR2, BSND, CA2, CAD, CASR, CLCN5, CLCNKA, CLCNKB, CLDN10, CLDN16, CLDN19, CNNM1, CNNM2, CNNM4, CPT1A, CTNS, CUL3, CYP11B2, CYP24A1, CYP27B1, CYP2R1, DMP1, EGF, EGFR, EHHADH, ENPP1, FAH, FAM111A, FGF23, FXYD2, GNA11, HNF1B, HSD11B2, JAG1, KCNA1, KCNJ1, KCNJ10, KCNJ5, KLHL3, MAGED2, MAGT1, MMGT1, NIPA2, NOTCH2, NR3C2, OCRL, PC, PCBD1, PHEX, REN, RMND1, SARS2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC22A12, SLC2A9, SLC34A1, SLC34A3, SLC41A2, SLC41A3, SLC4A1, SLC4A4, SLC5A2, SLC9A3R1, TRPM6, TRPM7, UMOD, UQCC2, VDR, VIPAS39, VPS33B, WNK1, WNK4



A Genetyca-ICM by Atrys disponibiliza ainda abordagens mais alargadas para as diferentes especialidades que poderão ser úteis para doentes com quadros clínicos complexos: exoma clínico ou exoma em trio.


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