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.


  • Amaurose congénita de Leber (Painel NGS de 69 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Cataratas congénitas (Painel NGS de 63 genes)
  • Distrofia dos cones e bastonetes (Painel NGS de 37 genes)
  • Glaucoma (Painel NGS de 35 genes)
  • Oftalmoplegia externa progressiva (Painel NGS de 52 genes – inclui análise dos 37 genes do DNA mitocondrial)
  • Queratocone (Painel NGS de 101 genes)
  • Retinite pigmentosa (Painel NGS de 125 genes – inclui análise dos 37 genes do DNA mitocondrial)
Amaurose congénita de Leber (Painel NGS de 69 genes – inclui análise dos 37 genes do DNA mitocondrial)

AIPL1, ALMS1, BBS4, CABP4, CEP290, CNGA3, CRB1, CRX, CWC27, GDF6, GUCY2D, IDH3A, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, 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, MYO7A, NMNAT1, OTX2, PRPH2, RD3, RDH12, RDH5, ROM1, RPE65, RPGRIP1, SPATA7, TUBB4B, TULP1, USP45

Cataratas congénitas (Painel NGS de 63 genes)

ABHD12, AGK, BCOR, BEST1, BFSP1, BFSP2, CAV1, CHMP4B, CLPB, COL18A1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, EPHA2, EYA1, FAM126A, FOXC1, FOXE3, FTL, FYCO1, GALK1, GBA2, GCNT2, GFER, GJA3, GJA8, HSF4, JAM3, LEMD2, LIM2, LSS, MAF, MIP, MIR184, MSMO1, NHS, OCRL, P3H2, PAX6, PITX2, PITX3, PXDN, RDH11, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TDRD7, UNC45B, VIM, VSX2, WFS1

Distrofia dos cones e bastonetes (Painel NGS de 37 genes)

ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGA3, CNGB3, CNNM4, CRX, DRAM2, GNAT2, GUCA1A, GUCY2D, KCNV2, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, UNC119

Glaucoma (Painel NGS de 35 genes)

ACVR1, ASB10, ATOH7, BEST1, CANT1, COL18A1, CRYAA, CRYGC, CRYGD, CYP1B1, FOXC1, GDF6, GJA8, LMX1B, LOXL1, LTBP2, MFRP, MYOC, NTF4, OPA1, OPTN, PAX6, PITX2, PITX3, PRSS56, PXDN, RS1, SBF2, SIX6, SLC4A4, TBK1, TEK, TTR, VSX2, WDR36

Oftalmoplegia externa progressiva (Painel NGS de 52 genes – inclui análise dos 37 genes do DNA mitocondrial)

AFG3L2, DGUOK, DNA2, MGME1, 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, OPA1, POLG, POLG2, RNASEH1, RRM2B, SLC25A4, SPG7, TK2, TOP3A, TWNK, TYMP

Queratocone (Painel NGS de 101 genes)

ABCA4, AGBL5, AIPL1, ANTXR1, ARHGEF18, ARL2BP, ARL6, BBS2, BEST1, CA4, CDHR1, CEP290, CERKL, CFAP418, CLRN1, CNGA1, CNGB1, COL3A1, COL5A1, CRB1, CRX, DHDDS, EYS, FAM161A, FSCN2, GDF6, GUCA1B, GUCY2D, HGSNAT, HRAS, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, IQCB1, KCNJ13, KIZ, KLHL7, LCA5, LMX1B, LOX, LRAT, MAK, MERTK, MIR184, NEK2, NMNAT1, NR2E3, NRL, OFD1, PCARE, PCYT1A, PDE6A, PDE6B, PDE6G, PIEZO2, PLOD1, POMGNT1, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RD3, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SLC2A10, SLC7A14, SNRNP200, SOD1, SPATA7, TIMP3, TNXB, TOPORS, TTC8, TUB, TUBA3D, TULP1, USH2A, VSX1, ZNF408, ZNF469, ZNF513

Retinite pigmentosa (Painel NGS de 125 genes – inclui análise dos 37 genes do DNA mitocondrial)

ABCA4, ABHD12, ADGRV1, AIPL1, ARL6, ARSG, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, CA4, CC2D2A, CDH23, CDHR1, CEP290, CERKL, CIB2, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FSCN2, HARS1, HGSNAT, HK1, IFT172, IMPDH1, IMPG2, INPP5E, KLHL7, LRAT, MERTK, MFRP, MKKS, 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, MYO7A, NEUROD1, NMNAT1, NPHP1, NPHP3, NR2E3, NRL, PCDH15, PDE6A, PDE6B, PDZD7, PEX1, POMGNT1, PRKCG, PROM1, PRPF3, PRPF31, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, SAG, SNRNP200, TOPORS, TRIM32, TTC8, TTPA, TULP1, USH1C, USH1G, USH2A, WFS1, WHRN, ZNF408



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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