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.


  • Diabetes e hiperglicemia (Painel NGS de 85 genes)
  • Diabetes monogénica (Painel NGS de 71 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Dislipidemia familiar (Painel NGS de 29 genes)
  • Doenças do desenvolvimento sexual (Painel NGS de 147 genes)
  • Feocromocitoma e paraganglioma (Painel NGS de 15 genes)
  • Hipercolesterolemia (Painel NGS de 10 genes)
  • Hipertrigliceremia familiar (Painel NGS de 18 genes)
  • Hipolipidemia e hipocolesterolemia (Painel NGS de 6 genes)
  • Hipogonadismo hipogonadotrófico (Painel NGS de 39 genes)
  • Hipoparatiroidismo (Painel NGS de 19 genes)
  • MODY (Painel NGS de 16 genes)
  • Obesidade sindrómica (Painel NGS de 311 genes – inclui análise dos 37 genes do DNA mitocondrial)
Diabetes e hiperglicemia (Painel NGS de 85 genes)

ABCC8, AGPAT2, AGPS, AIRE, AKT2, ALMS1, APPL1, AQP2, AVP, AVPR2, BLK, BSCL2, CAV1, CEL, CIDEC, CISD2, COQ2, COQ9, CP, DCAF17, DMXL2, DNAJC3, DYRK1B, EIF2AK3, EIF2S3, ENPP1, FOXC2, FOXP3, GATA4, GATA6, GCK, GHRL, GLIS3, GLUD1, HADH, HAMP, HFE, HFE2, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, KCNJ11, KLF11, LEP, LEPR, LIPC, LMNA, LPL, LRBA, MKKS, MNX1, NEUROD1, NEUROG3, NKX2-2, PAX4, PAX6, PCBD1, PCSK1, PDX1, PIK3R1, PLIN1, POLD1, POMC, PPARG, PPP1R15B, PTF1A, RFX6, SLC12A1, SLC19A2, SLC29A3, SLC2A2, SLC40A1, STAT1, STAT3, TFR2, TRMT10A, UCP3, WFS1, ZBTB20, ZFP57, ZMPSTE24

Diabetes monogénica (Painel NGS de 71 genes – inclui análise dos 37 genes do DNA mitocondrial)

ABCC8, AKT2, APPL1, BLK, CEL, CISD2, CP, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSR, KCNJ11, KLF11, 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, NEUROD1, NEUROG3, PAX4, PDX1, PPARG, PTF1A, RFX6, SLC16A1, SLC2A2, UCP2, WFS1, ZFP57

Dislipidemia familiar (Painel NGS de 29 genes)

ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CREB3L3, CYP27A1, GPD1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LIPG, LMF1, LPL, MTTP, PCSK9

Doenças do desenvolvimento sexual (Painel NGS de 147 genes)

AKR1C4, AMH, AMHR2, ANOS1, AR, ARL6, ARX, ATF3, ATRX, B3GLCT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BMP15, BMP4, BMP7, CBX2, CCNQ, CDKN1C, CEP41, CHD4, CHD7, CREBBP, CUL7, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, DHCR24, DHCR7, DHH, DMRT1, DMRT2, DYNC2H1, EFNB1, ESCO2, EVC, EVC2, FAT4, FBXL4, FEZF1, FGF10, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FOXL2, FRAS1, FREM2, FSHB, FSHR, GATA4, GLI3, GNRH1, GNRHR, GPC3, GRIP1, HCCS, HESX1, HHAT, HNF1B, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, IL17RD, INSL3, IRF6, KISS1, KISS1R, LHB, LHCGR, LHX3, LHX4, LMNA, MAMLD1, MAP3K1, MCM9, MED12, MID1, MKKS, MKS1, NEK1, NR0B1, NR3C1, NR5A1, NSMF, OPHN1, PCNT, PDE4D, PEX1, PITX2, POR, PROK2, PROKR2, PROP1, PSMC3IP, PTDSS1, PTPN11, RBBP8, RIPK4, ROR2, RSPO1, SALL1, SEMA3A, SETBP1, SOS1, SOX10, SOX2, SOX3, SOX9, SPECC1L, SRD5A2, SRY, STAR, TAC3, TACR3, TMEM70, TOE1, TP63, TRAIP, TRIM32, TSPYL1, TTC8, TWIST2, UBR1, WDR11, WDR35, WNT4, WNT5A, WNT7A, WT1, WWOX, ZEB2, ZFPM2

Feocromocitoma e paraganglioma (Painel NGS de 15 genes)

CDKN1B, FH, KIF1B, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL, PRKAR1A

Hipercolesterolemia (Painel NGS de 10 genes)

ABCG5, ABCG8, APOB, APOE, CYP27A1 , LDLR, LDLRAP1, LIPA, LPL, PCSK9

Hipertrigliceremia familiar (Painel NGS de 18 genes)

APOA5, APOC1, APOC2, APOC3, APOE, GPD1, GPIHBP1, INSIG2, LDLR, LIPC, LIPI, LMF1, LPL, PCSK9, PNPLA2, SLC25A40, TRIB1, USF1

Hipolipidemia e hipocolesterolemia (Painel NGS de 6 genes)

ACOX2, ANGPTL3, APOB, MTTP, PCSK9 , PNLIP

Hipogonadismo hipogonadotrófico (Painel NGS de 39 genes)

ANOS1, AXL, CCDC141, CHD4, CHD7, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, LEP, LEPR, LHB, NR0B1, NSMF, PCSK1, POLR3B, PROK2, PROKR2, PROP1, RNF216, SEMA3A, SEMA3E, SOX10, SOX2, SPRY4, SRA1, TAC3, TACR3, WDR11

Hipoparatiroidismo (Painel NGS de 19 genes)

AIRE, AP2S1, CASR, CHD7, CYP24A1, FAM111A, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PTH, PTH1R, SOX3, STX16, TBCE, TBX1

MODY (Painel NGS de 16 genes)

ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, RFX6, ZFP57

Obesidade sindrómica (Painel NGS de 311 genes – inclui análise dos 37 genes do DNA mitocondrial)

ABCA4, ADNP, AFF4, AGBL5, AIP, AKT2, ALMS1, ANOS1, APC2, ApoE, ARHGEF18, ARL13B, ARL2BP, ARL6, ARMC5, ARNT2, ARVCF, ATRX, BAZ1B, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, BEST1, BLK, BRAF, C8orf37, CA4, CACNA1S, CANT1, CCDC141, CDH23, CDHR1, CEP164, CEP19, CEP290, CERKL, CHD7, CLIP2, CLRN1, CNGA1, CNGB1, CNNM2, COMT, CRB1, CREBBP, CRX, CTNNB1, CTSH, CUL4B, CYP19A1, CYP7A1, DEAF1, DHDDS, DPYD, DUSP6, DYNC2I2, DYRK1B, EGF, EHMT1, EIF2S3, ELN, EP300, ERMARD, EYS, FAM161A, FEZF1, FGF17, FGF8, FGFR1, FGFR3, FLII, FLRT3, FMR1, FOXP1, FSCN2, FTO, GABRA3, GABRD, GATA4, GHR, GNAS, GP1BB, GTF2I, GTF2IRD1, GUCA1B, H6PD, HACE1, HCRT, HDAC4, HDAC8, HERC2, HESX1, HGSNAT, HIRA, HLA-DQB1, HLA-DRB1, HS6ST1, HSD11B1, HUWE1, IDH3B, IFT140, IFT172, IFT27, IFT74, IGF1, IGFALS, IL17RD, IMPDH1, IMPG2, INPP5E, IQSEC2, JMJD1C, KCNAB2, KCNJ18, KDM6A, KIDINS220, KIF7, KISS1R, KIZ, KLHL7, KMT2A, KMT2D, LAS1L, LEP, LEPR, LIMK1, LIPE, LRAT, LZTFL1, MAGEL2, MAK, MAN1B1, MC4R, MEGF8, MERTK, MKKS, MKRN3, MKS1, MLXIPL, MOG, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, 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, MYT1L, NDN, NEK2, NIPBL, NPAP1, NPHP1, NR0B2, NR2E3, NRL, NSD1, NSMF, NTRK2, OFD1, OTX2, P2RY11, PAX6, PCARE, PCNT, PCSK1, PDE11A, PDE4D, PDE6A, PDE6B, PDE6G, PDSS1, PHF6, PNPLA6, POMC, POMGNT1, PPARG, PRCD, PRDM16, PRKAR1A, PRMT7, PROK2, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PTEN, RAB23, RAD21, RAI1, RAP1A, RAP1B, RBMX, RBP3, RDH12, REEP6, RERE, RFC2, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RREB1, SAG, SDCCAG8, SEC24C, SEMA3A, SEMA4A, SETD2, SETD5, SH2B1, SHANK3, SHOX, SIM1, SIN3A, SKI, SLC25A4, SLC7A14, SLC7A7, SMAD4, SMC1A, SMC3, SNORD115-1, SNORD116-1, SNRNP200, SNRPN, SOX10, SOX2, SOX3, SPATA7, SPG11, SPRY4, SRY, STX16, TACR3, TBL2, TBX1, TBX3, THOC2, TMEM67, TNFSF4, TOPORS, TRAF3IP1, TRAPPC9, TRIM32, TTC8, TUB, TULP1, UBE3A, UFD1, USH2A, USP8, VPS13B, WDPCP, WDR11, WNT4, WT1, XRCC4, XYLT1, ZBTB20, ZDHHC15, ZNF365, ZNF408, ZNF513



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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