< Voltar aos resultados
 
Doenças do movimento (painel NGS baseado em WES de 929 genes, incluindo análise de CNVs)
AAAS, AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACTB, ACY1, ADA, ADAR, ADCY5, ADGRG1, ADSL, AFG3L2, AGA, AGK, AGL, AGPS, AGXT, AHI1, AIFM1, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, AMACR, AMN, AMPD2, AMT, ANKS6, ANO10, ANO3, AP1S2, APOA1, APOA5, APOB, APOC2, APOE, APOPT1, APRT, APTX, ARG1, ARL13B, ARL6, ARSA, ARSB, ARSE, ARX, ASAH1, ASL, ASPA, ASS1, ATAD3A, ATCAY, ATIC, ATM, ATP13A2, ATP1A2, ATP1A3, ATP6AP1, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATP8B1, ATPAF2, ATXN1, ATXN10, ATXN7, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, B4GAT1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BOLA3, BTD, C12orf65, C19orf12, C1QBP, C21orf2, C2CD3, C5orf42, C9orf72, CA5A, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CASK, CAT, CC2D2A, CCDC115, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP43, CHCHD10, CHCHD2, CHKB, CHMP1A, CHMP2B, CHST14, CHST3, CHST6, CHSY1, CISD2, CIZ1, CLCN2, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNNM2, COA3, COA6, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL6A3, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CPOX, CPS1, CPT1A, CPT2, CRB2, CSF1R, CSPP1, CSTB, CTH, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CWF19L1, CYC1, CYCS, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS, DARS2, DBH, DBT, DCAF10, DCAF17, DCC, DCDC2, DCTN1, DCXR, DDC, DDHD2, DDX59, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHODH, DHTKD1, DKC1, DLAT, DLD, DMPK, DMXL2, DNA2, DNAH1, DNAJC12, DNAJC19, DNAJC5, DNAJC6, DNM1L, DNMT1, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DRD2, DRD5, DYM, DYNC2H1, DYNC2LI1, EARS2, EBP, ECHS1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELAC2, ELOVL4, ENO3, EPG5, EPM2A, ERCC6, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXT1, EXT2, FA2H, FAH, FAR1, FARS2, FASTKD2, FBP1, FBXL4, FBXO7, FDXR, FECH, FGF14, FGFR2, FH, FKRP, FKTN, FLAD1, FLVCR1, FMO3, FOLR1, FOXG1, FOXP2, FOXRED1, FTCD, FTL, FUCA1, FUT8, FXN, G6PC, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GARS, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCLC, GDAP1, GFAP, GFER, GFM1, GFPT1, GIF, GIGYF2, GJC2, GK, GLA, GLB1, GLDC, GLI3, GLIS2, GLRA1, GLRB, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMPPB, GNAL, GNAO1, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GPAA1, GPD1, GPHN, GPR88, GRHPR, GRID2, GRM1, GRN, GSS, GTPBP2, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAMP, HCCS, HCFC1, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HIBCH, HLCS, HMBS, HMGCL, HMGCS2, HNF1B, HNRNPH1, HOGA1, HPCA, HPD, HPRT1, HPS1, HSD17B10, HSD17B4, HSD3B7, HSPD1, HTRA2, HTT, HYAL1, HYLS1, IARS2, IBA57, ICK, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, INPP5E, INVS, IPPK, IQCB1, ISCU, ISG15, ISPD, ITPA, ITPR1, IVD, KARS, KCNA1, KCNC3, KCND3, KCNJ10, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCTD17, KIAA0586, KIAA1161, KIF1C, KIF7, KMT2B, KYNU, L2HGDH, LAMP2, LARGE1, LARS2, LBR, LCAT, LCT, LDHA, LDLR, LDLRAP1, LIAS, LIPA, LIPC, LIPT1, LMBRD1, LONP1, LPIN1, LPL, LRPPRC, LRRK2, LYST, LZTFL1, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAPKBP1, MAPT, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECR, MFF, MFN2, MFSD8, MGAT2, MGME1, MKKS, MKS1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MR1, MRE11, MRPL3, MRPS22, MRPS34, MSMO1, MTFMT, MTHFR, MTO1, MTPAP, MTR, MTRR, MTTP, MUT, MVK, NAGA, NAGLU, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK1, NEK8, NEU1, NFU1, NGLY1, NHLRC1, NKX2-1, NKX6-2, NOP56, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR4A2, NSDHL, NT5C3A, NUBPL, NUP62, OAT, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPLAH, OTC, OXCT1, PAH, PANK2, PARK7, PARS2, PAX6, PC, PCBD1, PCCA, PCCB, PCDH12, PCK1, PCSK9, PDE10A, PDE2A, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDPR, PDSS1, PDSS2, PDX1, PDYN, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PINK1, PKD1, PKD2, PKHD1, PLA2G6, PLP1, PMM2, PMPCA, PNKD, PNKP, PNP, PNPLA6, PNPO, PNPT1, POLG, POLG2, POLR3A, POMGNT1, POMGNT2, POMT1, POMT2, POR, PPA2, PPOX, PPP2R2B, PPP2R5D, PPT1, PRKAG2, PRKCG, PRKN, PRKRA, PRNP, PRODH, PRPS1, PRRT2, PSAP, PSAT1, PSEN1, PSPH, PTEN, PTF1A, PTS, PUS1, PYCR1, PYGL, PYGM, QARS, QDPR, RAB39B, RANBP2, RARS2, RBCK1, RBP4, RELN, RFT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF170, RNF216, RNU7-1, ROBO3, RPGRIP1L, RPIA, RPL10, RRM2B, RYR1, SACS, SAMHD1, SAR1B, SARS2, SBDS, SC5D, SCN1A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SEPSECS, SERAC1, SETX, SGCE, SGSH, SI, SIL1, SKIV2L, SLC12A3, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A3, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC41A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC6A19, SLC6A20, SLC6A3, SLC6A5, SLC6A8, SLC7A7, SLC7A9, SLC9A6, SMPD1, SMPD4, SNCA, SNCAIP, SNX14, SPG11, SPG7, SPR, SPTBN2, SPTLC1, SPTLC2, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STS, STT3A, STUB1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYNJ1, SYT1, TACO1, TAF1, TALDO1, TANGO2, TARS2, TAT, TAZ, TBK1, TBP, TCN2, TCTEX1D2, TCTN1, TCTN2, TCTN3, TERT, TFR2, TGM6, TH, THAP1, TIMM50, TIMM8A, TINF2, TK2, TMEM107, TMEM126B, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TOE1, TOR1A, TPK1, TPP1, TRAF3IP1, TREM2, TREX1, TRIM37, TRMU, TRNT1, TRPM6, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC21B, TTC37, TTC8, TTPA, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUFM, TUSC3, TWNK, TXNDC15, TYMP, UCHL1, UGT1A1, UMOD, UMPS, UQCRB, UQCRQ, UROC1, UROD, UROS, VAC14, VAMP1, VAMP2, VARS2, VIPAS39, VKORC1, VLDLR, VPS13A, VPS13B, VPS13D, VPS33B, VPS35, VPS37A, VPS4A, VPS53, VRK1, WDPCP, WDR19, WDR34, WDR35, WDR45, WDR73, WDR81, WFS1, WWOX, XDH, XPNPEP3, XPR1, XYLT1, XYLT2, YARS2, YIF1B, YY1, ZNF423, ZSWIM6.
Requisite Agora


Metodologia

NGS


0
1 Quando não for possível colher o volume mínimo para o teste, por favor contacte o CGC Genetics
2 Tempo máximo de envio para assegurar a qualidade da amostra

Tempo de Resposta (dias)

- 60

Especialidades

- Neurologia / Neuropediatria, Pediatria


Referência CGC

- 5996




Testes Associados


Erros inatos do metabolismo (painel NGS de 834 genes, incluindo análise de CNVs)
Epilepsia (painel NGS baseado em WES de 596 genes, incluindo análise de CNVs)
Doenças mitocondriais (painel NGS baseado em WES de 268 genes, incluíndo análise de CNVs)
Ataxias hereditárias (painel NGS baseado em WES de 214 genes, incluindo análise de CNVs)
Displasia esquelética (painel NGS baseado em WES de 530 genes, incluindo análise de CNVs)