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Usher, Síndrome |
Painel por Sequenciamento de Próxima Geração |
ABHD12, CDH23, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, PDZD7, PEX1, PEX6, USH1C, USH1G, USH2A |
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Retinite Pigmentosa |
Painel por Sequenciamento de Próxima Geração |
ABCA4, AIPL1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C2ORF71, C8ORF37, CA4, CACNA1F, CDH23, CEP290, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, DFNB31, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GUCA1B, GUCY2D, IDH3B, IMPDH1, IMPG2, INVS, IQCB1, KLHL7, LRAT, MAK, MERTK, MKKS, NPHP1, NPHP3, NPHP4, NR2E3, NRL, PCDH15, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX26, PEX7, PHYH, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1L, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TRIM32, TTC8, TULP1, USH1C, USH2A, WFS1, ZNF513 |
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Painel para Detecção de Portadores Assintomáticos de Doenças Genéticas Frequentes em Judeus |
Painel por Sequenciamento de Próxima Geração |
ABCC8, ABCD1, ACADM, ADAMTS2, AGL, AIRE, ARSA, ASNS, ASPA, ATM, ATP6V1B1, ATP7B, BBS2, BCKDHB, BLM, CERKL, CFTR, CLRN1, COL4A3, CPT2, CTNS, CYBA, CYP11B2, CYP21A2, CYP27A1, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EYS, F11, FAH, FAM161A, FANCA, FANCC, FKTN, FMR1, G6PC, GAA, GALT, GBA, GBE1, GJB2, GNE, HBA1, HBA2, HBB, HEXA, HOGA1, HPS3, IKBKAP, LDLR, LIPA, LOXHD1, MCOLN1, MED17, MEFV, MLC1, MPL, MTHFR, MTTP, NDUFAF5, NDUFS6, NEB, NR2E3, NTRK1, OAT, OPA3, PAH, PCDH15, PEX2, PEX6, PFKM, PHGDH, PKHD1, PMM2, PUS1, PYGM, RAG2, RAPSN, RARS2, RPE65, RTEL1, SEPSECS, SLC35A3, SMN1, SMPD1, SUMF1, TCIRG1, TECPR2, TMEM216, TRMU, TYMP, USH2A, VPS13A, VRK1, VSX2 |
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Distrofia de Retina / Fotoreceptor |
Painel por Sequenciamento de Próxima Geração |
ABCA4, ADAM9, AIPL1, BBS1, BEST1, C1QTNF5, C2ORF71, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CDH3, CDHR1, CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, CRB1, CRX, CYP4V2, DHDDS, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GNAT1, GNAT2, GPR179, GRM6, GUCA1A, GUCA1B, GUCY2D, IDH3B, IMPDH1, IMPG2, IQCB1, KCNJ13, KCNV2, KLHL7, LCA5, LRAT, LRIT3, LRP5, MAK, MERTK, MFN2, NDP, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PAX6, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PITPNM3, PLA2G5, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SLC24A1, SNRNP200, SPATA7, TIMM8A, TIMP3, TMEM126A, TOPORS, TRPM1, TSPAN12, TTC8, TULP1, UNC119, USH2A, VCAN, ZNF513 |
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Retinite Pigmentosa, Autossômica Recessiva |
Painel por Sequenciamento de Próxima Geração |
PCARE, CERKL, CLRN1, DHDDS, FAM161A, IDH3B, IMPG2, MERTK, PDE6G, PRCD, PROM1, RBP3, RGR, RLBP1, RP1, SAG, SPATA7, TTC8, TULP1, ZNF513 |
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Doenças Autossômicas Recessivas |
Painel para Análise de Mutação |
ABCA4, ABCB7, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACE, ACOX1, ACTN4, ADA, ADAMTS2, ADAMTSL2, ADCK3, AGA, AGL, AGPS, AGT, AGTR1, AGXT, AHI1, AIPL1, ALAS2, ALDH4A1, ALDH5A1, ALDOA, ALDOB, ALG1, ALG6, ALMS1, ALPL, AMACR, AMT, ANO5, APTX, AR, ARG1, ARL13B, ARL6, ARSA, ARSB, ARSE, ARX, ASL, ASPA, ASPM, ASS1, ATIC, ATP7A, ATP7B, ATR, AUH, B4GALT1, B9D2, BCKDHA, BCKDHB, BCS1L, BEST1, BRCA2, BRIP1, BSCL2, BSND, BTD, BTK, C10ORF2, C3, CA2, CAPN3, CBS, CC2D2A, CD2AP, CD40LG, CDH23, CDH3, CDHR1, CDK5RAP2, CENPJ, CEP152, CEP290, CERKL, CFH, CFTR, CHST6, CLCN1, CLCN7, CLDN14, CLDN19, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGB1, CNGB3, COL11A1, COL17A1, COL18A1, COL1A2, COL2A1, COL4A3, COL4A4, COL7A1, COL9A1, COL9A2, COQ2, CPS1, CPT1A, CPT2, CRB1, CRLF1, CRTAP, CRX, CSTB, CTNS, CTSD, CTSK, CYP21A2, CYP4V2, CYP7B1, D2HGDH, DBT, DCLRE1C, DDB2, DDC, DFNB31, DFNB59, DGUOK, DHCR7, DHDDS, DKC1, DLD, DLL3, DMD, DMP1, DNAJC19, DPAGT1, DPM1, DPYD, DSP, DYSF, EDA, EDN3, EDNRB, EGR2, EIF2AK3, EMD, ENO3, ENPP1, ERCC2, ERCC3 |
