Exibindo de 561 - 580,Total 1852 Exames
#Condição Médica
Estratégia de AnáliseGenes RelacionadosCód. GenetikaEspecialidades
  
 
 
561Distonia tipo 12
Sequenciamento Completo do GeneATP1A3DPKNeurologia
562Distonia tipo 24 Associado a Tremor Laringeo
Sequenciamento Completo do GeneANO3DTANeurologia, Otorrinolaringologia
563Distonia tipo 25 Associado a Tremor Laringeo
Sequenciamento Completo do GeneGNALDTLNeurologia, Otorrinolaringologia
564Distonia tipo 6
Sequenciamento Completo do GeneTHAP1DY6Neurologia
565Distonia, Discinesia
Painel por Sequenciamento de Próxima GeraçãoGCDH, ATM, RELN, PDHA1, COL6A3, SLC16A2, ATP1A3, PLA2G6, PRRT2, SLC2A1, TUBB4A, SLC30A10, SCN8A, PNKD, ADCY5, SUCLA2, ATP13A2, GCH1, PRKRA, SLC6A3, SPR, TAF1, TH, ACY1, ANO3, CACNA1B, CIZ1, DLAT, GNAL, HPCA, KCNMA1, KCTD17, MR1, PDHX, SGCE, THAP1, TOR1ADIDNeurologia
566Distonia, Isolada
Painel por Sequenciamento de Próxima GeraçãoATP1A3, PLA2G6, SLC30A10, ATP13A2, GCH1, PRKRA, SLC6A3, SPR, TAF1, THIDYNeurologia
567Distonia, Responsiva a Dopa e/ou Parkinsonismo
Painel por Sequenciamento de Próxima GeraçãoATP1A3, PLA2G6, SLC30A10, ATP13A2, GCH1, PRKRA, SLC6A3, SPR, TAF1, THDDONeurologia
568Distonias e Neuroferritinopatias (NBIA)
Painel por Sequenciamento de Próxima GeraçãoCP, FTL, FA2H, ATP1A3, PLA2G6, PRRT2, SLC2A1, TUBB4A, PNKD, ATP13A2, GCH1, PRKRA, SLC6A3, SPR, TH, ANO3, GNAL, SGCE, THAP1, TOR1A, PARK2, PANK2, C19ORF12, COASY, CRAT, DCAF17, GTPBP2, IBA57, REPS1, WDR45DSNNeurologia
569Distrofia Corneana Endotelial, Autossômica Recessiva
Sequenciamento Completo do GeneSLC4A11DCEOftalmologia
570Distrofia de Retina / Fotoreceptor
Painel por Sequenciamento de Próxima GeraçãoAIPL1, CABP4, CEP290, CNGA3, CNGB3, CRB1, CRX, GNAT2, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, OTX2, PDE6H, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1, CNNM4, PDE6C, RPGR, COL2A1, PAX6, CACNA1F, MFN2, OPA1, OPA3, SLC24A1, TIMM8A, TMEM126A, ELOVL4, FLVCR1, BBS1, TTC8, OFD1, TRPM1, ABCA4, BEST1, ADAM9, C1QTNF5, C2ORF71, C8ORF37, CA4, CACNA2D4, CDH3, CDHR1, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGB1, COL11A1, COL11A2, COL9A1, COL9A2, CYP4V2, DHDDS, EFEMP1, EYS, FAM161A, FSCN2, FZD4, GNAT1, GPR179, GRM6, GUCA1A, GUCA1B, IDH3B, IMPG2, KCNV2, KLHL7, LRIT3, LRP5, MAK, NDP, NR2E3, NRL, NYX, OAT, PDE6A, PDE6B, PDE6G, PITPNM3, PLA2G5, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, RAX2, RBP3, RBP4, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RP9, SAG, SEMA4A, TIMP3, TOPORS, TSPAN12, UNC119, USH2A, VCAN, ZNF513DRFOftalmologia
571Distrofia de Retina e Retinopatias
Painel por Sequenciamento de Próxima GeraçãoAIPL1, CABP4, CEP290, CNGA3, CNGB3, CRB1, CRX, DTHD1, GNAT2, GUCY2D, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, NMNAT1, OTX2, PDE6H, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SNRNP200, SPATA7, TULP1, ATF6, CNNM4, OPN1LW, OPN1MW, PDE6C, RPGR, COL2A1, TYR, PAX6, CACNA1F, GPR143, LRMDA, OCA2, SLC24A5, SLC45A2, TYRP1, ACO2, MFN2, NR2F1, OPA1, OPA3, SLC24A1, SPG7, TIMM8A, TMEM126A, WFS1, FOXC1, CYP1B1, PITX2, VPS13B, COL4A1, GRN, ITM2B, ERCC6, KIF7, SOX2, ABHD12, CLN5, CLN6, CYP27A1, ELOVL4, FLVCR1, MTTP, PEX7, PHYH, SRD5A3, TPP1, AMN, CUBN, HK1, C3, CFB, HARS, PRPS1, BBS1, BBS2, BBS12, ALMS1, ARL6, BBIP1, BBS10, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP, BCOR, PITX3, VSX2, ERCC8, CTNNB1, RB1, AHI1, ARL13B, CC2D2A, CEP164, CEP41, CSPP1, IFT140, INVS, NPHP1, NPHP3, NPHP4, OFD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM216, TMEM237, TTC21B, WDR19, ZNF423, TRPM1, HTRA1, CDH23, FBLN5, BMP4, FRAS1, FREM1, FREM2, WT1, ABCA4, ATP13A2, IMPG1, BEST1, ADAM9, C1QTNF5, C2ORF71, C8ORF37, CA4, CACNA2D4, CDH3, CDHR1, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGB1, COL11A1, COL11A2, COL9A1, COL9A2, CYP4V2, DHDDS, EFEMP1, EYS, FAM161A, FSCN2, FZD4, GNAT1, GPR179, GRM6, GUCA1A, GUCA1B, IDH3B, IMPG2, KCNV2, KLHL7, LRIT3, LRP5, MAK, NDP, NR2E3, NRL, NYX, OAT, PDE6A, PDE6B, PDE6G, PITPNM3, PLA2G5, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, RAX2, RBP3, RBP4, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RP9, SAG, SEMA4A, TIMP3, TOPORS, TSPAN12, UNC119, USH2A, VCAN, ZNF513, GNPTAB, GNPTG, HCCS, KIF11, RP1L1, POC1B, PANK2, PPT1, ADAMTS18, COL18A1, GDF6, HGSNAT, AIRE, CLN8, CTSD, KCTD7, MFSD8, LRP2, MVK, IKBKG, MYOC, GP1BA, CFH, C2, PEX1, PEX2, PCYT1A, MFRP, FOXE3, VAX1, STRA6, PCDH15, USH1C, ADGRV1, AGBL5, ARHGEF18, ARL2BP, CIB2, DHX38, GRK1, HMCN1, HMX1, KIZ, MYO7A, NEK2, TTLL5, CEP78, PDZD7, USH1G, WHRN, PRPF4, IRX5, NUMB, FAM71A, SCAPER, ACBD5, OR2M7, RCBTB1, P3H2, ARMS2, CWC27, ZNF408, FUT5, UBAP1L, KIAA1549, CROCC, SLC37A3, EMC1, ATOH7, CAPN5, REEP6, RS1, B3GLCT, CYP2R1, PRTFDC1, NAALADL1, FOXI2, SMOC1, WASF3, PODNL1, PDAP1, TUB, ITIH2, POMZP3, IDH3A, C21orf2, CCZ1B, ADGRA3, TEX28, PLD4, RAB28, SLC7A14, FAM57B, TEAD1, GRIP1, CPLANE1, SLC38A8DRROftalmologia
572Distrofia Macular
Painel por Sequenciamento de Próxima GeraçãoCRB1, CRX, GUCY2D, MERTK, PRPH2, RPGR, JAG1, NPHP1, ABCA4, BEST1, C1QTNF5, CDH3, CDHR1, CERKL, GUCA1A, PROM1, RDH5, MT-TL1, KIF11, RP1L1, DRAM2, POC1BMCLOftalmologia
573Distrofia Macular Viteliforme
Sequenciamento Completo do GeneBEST1DMVOftalmologia
574Distrofia Macular Viteliforme, tipo 4
Sequenciamento Completo do GeneIMPG1DMIOftalmologia
575Distrofia Miotônica
Análise de ExpansãoDMPKDI1Cardiologia, Neurologia, Pediatria, Oftalmologia
576Distrofia Miotônica
Análise de ExpansãoZNF9DIRCardiologia, Neurologia, Endocrinologia e Metabologia, Pediatria
577Distrofia Miotonica
Análise de ExpansãoDMPKDM1Cardiologia, Neurologia, Pediatria, Oftalmologia
578Distrofia Miotonica
Análise de ExpansãoDMPK, ZNF9DTPCardiologia, Neurologia, Endocrinologia e Metabologia, Pediatria, Oftalmologia
579Distrofia Muscular - Distroglicanopatia
Sequenciamento Completo do Gene + Análise de Deleção/DuplicaçãoISPDDMBOrtopedia e Traumatologia
580Distrofia Muscular - Distroglicanopatia
Sequenciamento Completo do Gene + Análise de Deleção/DuplicaçãoPOMGNT1DDYNeurologia, Ortopedia e Traumatologia, Oftalmologia