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CLN8

Exames relacionados Estratégia de Análise Gene relacionado
Retinopatias, Painel Expandido Painel por Sequenciamento de Próxima Geração ABCA4, ABCC6, ABCD1, ABHD12, ACO2, ADAM9, ADGRV1, AGBL5, AHI1, AHR, AIPL1, ALMS1, AMACR, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARSG, ATF6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C12ORF65, C1QTNF5, C2ORF71, C5orf42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP290, CEP41, CERKL, CFH, CHM, CIB2, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGB1, CNGB3, CNNM4, CRB1, CRX, CTSD, CYP4V2, DFNB31, DHDDS, DHX38, DNAJC5, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMCN1, HMX1, IDH3B, IFT140, IFT172, IFT43, IMPDH1, IMPG2, IQCB1, ITM2B, KCNJ13, KCNV2, KCTD7, KIF7, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MVK, MYO7A, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OTX2, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G
Epilepsia, Painel Expandido Painel por Sequenciamento de Próxima Geração CACNA1A, CASR, GABRD, ASAH1, KCNMA1, ME2, PRICKLE2, SLC4A10, SMC1A, SPR, ST3GAL3, ST3GAL5, SUOX, UBR5, WFS1, ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, CACNA2D2, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DEPDC5, DNAJC5, DYNC1H1, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, KANSL1, KCNH2, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, LIAS, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, RBFOX1, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SPTAN1, STXBP1, SYN1, SYNGAP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, ZEB2, WWOX, NPR2L, STX1B, CNTN2, CACNB4, CACNA1H, CLCN2, ADRA2B, SNIP1, CPA6, IER3IP1, STRADA, SLC6A1, LNPK, ICK, TRAPPC6B, NACC1, PROSC, NPRL3, PRDM8, SLC12A5, LMNB2, SPATA5, RELN, GAL, CERS1, KCNC1, SRPX2, CRH, NPRL2
Lipofuscinose Ceróide Neuronal Infantil Painel por Sequenciamento de Próxima Geração ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1
Encefalopatia Epiléptica Infantil Precoce, Autossômica Recessiva Painel por Sequenciamento de Próxima Geração ACY1, ADSL, ALDH7A1, ARFGEF2, BCKDK, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, CTSF, EPM2A, FARS2, FOLR1, GAMT, GOSR2, KCNJ10, KCTD7, MFSD8, NHLRC1, NRXN1, PIGO, PLCB1, PNKP, PNPO, POLG, PPT1, ROGDI, SCARB2, SLC19A3, SLC25A22, ST3GAL3, ST3GAL5, SZT2, TBC1D24, TNK2, TPP1, WWOX
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
Subscrever CLN8