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PRPS1

Exames relacionados Estratégia de Análise Gene relacionado
Surdez Não-Sindrômica Ligada ao X Painel para Sequenciamento Completo do Gene + Análise de Deleção/Duplicação PRPS1, POU3F4, SMPX, AIFM, COL4A6, GPRASP2
Surdez Ligada ao X Tipo 1 Sequenciamento Completo do Gene + Análise de Deleção/Duplicação PRPS1
Deficiência Intelectual Ligada ao X Painel por Sequenciamento de Próxima Geração ABCD1, ACSL4, AFF2, AGTR2, AIFM1, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, EBP, EIF2S3, FAAH2, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, GSPT2, HCCS, HCFC1, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, KLF8, L1CAM, LAMP2, LAS1L, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, OCRL, OFD1, OGT, OPHN1, OTC, PAK3, PCDH19, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, THOC2, TIMM8A, TSPAN7, UBE2A, UPF3B, USP9X, WDR13, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZMYM3, ZNF41, ZNF711, ZNF81
Surdez Não Sindrômica Autossômica Recessiva Painel por Sequenciamento de Próxima Geração ADCY1, BDP1, BSND, CABP2, CDC14A, CDH23, CIB2, CLDN14, CLIC5, COL11A2, COL4A6, DCDC2, DFNB59, EPS8, EPS8L2, ESPN, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRXCR2, HGF, ILDR1, KARS, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PCDH15, PDZD7, PNPT1, POU3F4, PRPS1, PTPRQ, RDX, S1PR2, SERPINB6, SLC26A4, SLC26A5, SLITRK6, SMPX, SYNE4, TBC1D24, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WBP2
Charcot Marie Tooth, Doença, Painel Completo Painel por Sequenciamento de Próxima Geração AARS, AIFM1, BSCL2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HSPB1, HSPB8, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, TRPV4, YARS
Doenças Neuromusculares Painel por Sequenciamento de Próxima Geração AARS, ABCD1, AFG3L2, ANO5, APTX, ASPA, ATL1, ATM, ATP7A, CACNA1S, CAPN3, CAV3, CLCN1, CP, CYP7B1, DAG1, DES, DMD, DNAJB6, DNM2, DYSF, EGR2, EMD, FGD4, FHL1, FIG4, FKRP, FKTN, FLNC, FUS, FXN, GARS, GDAP1, GJB1, GJB3, HSPB1, HSPB8, KIF5A, L1CAM, LAMP2, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MSTN, MTM1, MTMR2, MYOT, NDRG1, NEFL, NIPA1, NOTCH3, PABPN1, PMP22, POMGNT1, POMT1, POMT2, PRPS1, PRX, PYGM, RAB7A, REEP1, SBF2, SCN4A, SCO2, SETX, SGCA, SGCB, SGCD, SGCG, SOD1, SPAST, SPG11, SPG7, TARDBP, TCAP, TRIM32, TRPV4, VAPB
Neuropatia Periférica Painel por Sequenciamento de Próxima Geração AARS, ABCD1, ARHGEF10, ARSA, ATL1, ATM, ATP7A, BICD2, BSCL2, CCT5, CTDP1, CYP27A1, CYP7B1, DCTN1, DCAF8, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GALC, GAN, GARS, GBE1, GDAP1, GJB1, GJB3, GLA, GNB4, HARS, HINT1, HINT2, HK1, HMBS, HSN2, HSPB1, HSPB3, HSPB8, HSPD1, IGHMBP2, IKBKAP, INF2, KARS, KIAA0196, KIF1A, KIF1B, KIF5A, L1CAM, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NIPA1, NTRK1, PDK3, PHYH, PLEKHG5, PLP1, PMP22, PRPS1, PRX, RAB7A, REEP1, RTN2, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC16A2, SLC5A7, SOD1, SPAST, SPG11, SPG20, SPG21, SPG7, SPTLC1, SPTLC2, SPTLC3, TFG, TRIM2, TRPV4, TTR, TUBB3, TYMP, WNK1, XPC, YARS, ZFYVE26, ZFYVE27
Neuropatia Metabólica Sindrômica Painel por Sequenciamento de Próxima Geração ABCD1, ARSA, ATM, CTDP1, CYP27A1, FBLN5, GALC, GAN, GBE1, GJB3, GLA, HMBS, L1CAM, PHYH, PRPS1, TTR, TUBB3, TYMP, XPC
Subscrever PRPS1