Neurologia
Neurologia é a especialidade médica que trata dos distúrbios estruturais do sistema nervoso. O teste genético permite a identificação de condições neurológicas herdadas, como controle muscular e distúrbios do movimento, autismo, deficiência intelectual, epilepsia, ataxias, neuropatias e demências.
Lista de Exames:
Painel de ataxia
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 186
Cobertura: ≥ 99,5% ≥ 20x
ABCB7, ABHD12, ABHD5, ACADVL, ACO2, AFG3L2, AHI1, ALDH5A1, AMACR, ANO10, AP1S2, APTX, ARL13B, ARL6, ARSA, ATCAY, ATM, ATN1, ATP13A2, ATP1A3, ATP2B3, ATP8A2, B9D1, BBS1, BBS12, BSCL2, BTD, C12orf65, C19orf12, CA8, CACNA1A, CACNB4, CAMTA1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CHMP1A, CLCN2, CLN5, CLN6, CLPP, COASY, COQ2, COQ8A, COQ9, COX20, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EXOSC3, FA2H, FBXL4, FGF14, FLVCR1, FTL, FXN, GALC, GBA, GBA2, GFAP, GJB1, GJC2, GOSR2, GRID2, GRM1, GSS, HEPACAM, HEXB, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1A, KIF1C, KIF5A, KIF7, LAMA1, LMNB1, LRPPRC, MARS2, MKS1, MLC1, MRE11, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFV1, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPA3, OPHN1, PANK2, PAX6, PDHX, PDSS1, PDSS2, PDYN, PEX10, PEX2, PEX7, PHYH, PLA2G6, PLP1, PNKD, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRICKLE1, PRKCG, PRRT2, RARS2, RPGRIP1L, RRM2B, RUBCN, SACS, SCN2A, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC52A3, SLC9A6, SPG11, SPG7, SPR, SPTBN2, STUB1, SYNE1, TCTN2, TGM6, TMEM216, TMEM237, TMEM240, TMEM67, TPP1, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VLDLR, VRK1, WDR81, WFS1, WWOX, ZFYVE26
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Ataxia cerebelar
● Ataxia episódica
● Hipoplasia pontocerebelar
● Ataxia espinocerebelar
Painel de ataxia ampliado
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 196
Cobertura: ≥ 99,5% ≥ 20x
ABCB7, ABHD12, ABHD5, ACADVL, ACO2, AFG3L2, AHI1, ALDH5A1, AMACR, ANO10, AP1S2, APTX, ARL13B, ARL6, ARSA, ATCAY, ATM, ATN1, ATP13A2, ATP1A3, ATP2B3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, B9D1, BBS1, BBS12, BEAN1, BSCL2, BTD, C12ORF65, C19orf12, CA8, CACNA1A, CACNB4, CAMTA1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CHMP1A, CLCN2, CLN5, CLN6, CLPP, COASY, COQ2, COQ8A, COQ9, COX20, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EXOSC3, FA2H, FBXL4, FGF14, FLVCR1, FTL, FXN, GALC, GBA, GBA2, GFAP, GJB1, GJC2, GOSR2, GRID2, GRM1, GSS, HEPACAM, HEXB, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1A, KIF1C, KIF5A, KIF7, LAMA1, LMNB1, LRPPRC, MARS2, MKS1, MLC1, MRE11, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFV1, NOP56, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPA3, OPHN1, PANK2, PAX6, PDHX, PDSS1, PDSS2, PDYN, PEX10, PEX2, PEX7, PHYH, PLA2G6, PLP1, PNKD, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PPP2R2B, PRICKLE1, PRKCG, PRRT2, RARS2, RPGRIP1L, RRM2B, RUBCN, SACS, SCN2A, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC52A3, SLC9A6, SPG11, SPG7, SPR, SPTBN2, STUB1, SYNE1, TBP, TCTN2, TGM6, TMEM216, TMEM237, TMEM240, TMEM67, TPP1, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VLDLR, VRK1, WDR81, WFS1, WWOX, ZFYVE26
Painel de expansão de repetição de ataxia
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 13
Cobertura: 100%
Análise de expansão de repetição: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PP2R2B, TBP
Neurologia
Neurologia é a especialidade médica que trata dos distúrbios estruturais do sistema nervoso. O teste genético permite a identificação de condições neurológicas herdadas, como controle muscular e distúrbios do movimento, autismo, deficiência intelectual, epilepsia, ataxias, neuropatias e demências.
Lista de Exames:
Painel de ataxia
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 186
Cobertura: ≥ 99,5% ≥ 20x
ABCB7, ABHD12, ABHD5, ACADVL, ACO2, AFG3L2, AHI1, ALDH5A1, AMACR, ANO10, AP1S2, APTX, ARL13B, ARL6, ARSA, ATCAY, ATM, ATN1, ATP13A2, ATP1A3, ATP2B3, ATP8A2, B9D1, BBS1, BBS12, BSCL2, BTD, C12orf65, C19orf12, CA8, CACNA1A, CACNB4, CAMTA1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CHMP1A, CLCN2, CLN5, CLN6, CLPP, COASY, COQ2, COQ8A, COQ9, COX20, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EXOSC3, FA2H, FBXL4, FGF14, FLVCR1, FTL, FXN, GALC, GBA, GBA2, GFAP, GJB1, GJC2, GOSR2, GRID2, GRM1, GSS, HEPACAM, HEXB, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1A, KIF1C, KIF5A, KIF7, LAMA1, LMNB1, LRPPRC, MARS2, MKS1, MLC1, MRE11, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFV1, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPA3, OPHN1, PANK2, PAX6, PDHX, PDSS1, PDSS2, PDYN, PEX10, PEX2, PEX7, PHYH, PLA2G6, PLP1, PNKD, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRICKLE1, PRKCG, PRRT2, RARS2, RPGRIP1L, RRM2B, RUBCN, SACS, SCN2A, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC52A3, SLC9A6, SPG11, SPG7, SPR, SPTBN2, STUB1, SYNE1, TCTN2, TGM6, TMEM216, TMEM237, TMEM240, TMEM67, TPP1, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VLDLR, VRK1, WDR81, WFS1, WWOX, ZFYVE26
Painel de ataxia ampliado
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 196
Cobertura: ≥ 99,5% ≥ 20x
ABCB7, ABHD12, ABHD5, ACADVL, ACO2, AFG3L2, AHI1, ALDH5A1, AMACR, ANO10, AP1S2, APTX, ARL13B, ARL6, ARSA, ATCAY, ATM, ATN1, ATP13A2, ATP1A3, ATP2B3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, B9D1, BBS1, BBS12, BEAN1, BSCL2, BTD, C12ORF65, C19orf12, CA8, CACNA1A, CACNB4, CAMTA1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CHMP1A, CLCN2, CLN5, CLN6, CLPP, COASY, COQ2, COQ8A, COQ9, COX20, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EXOSC3, FA2H, FBXL4, FGF14, FLVCR1, FTL, FXN, GALC, GBA, GBA2, GFAP, GJB1, GJC2, GOSR2, GRID2, GRM1, GSS, HEPACAM, HEXB, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1A, KIF1C, KIF5A, KIF7, LAMA1, LMNB1, LRPPRC, MARS2, MKS1, MLC1, MRE11, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFV1, NOP56, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPA3, OPHN1, PANK2, PAX6, PDHX, PDSS1, PDSS2, PDYN, PEX10, PEX2, PEX7, PHYH, PLA2G6, PLP1, PNKD, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PPP2R2B, PRICKLE1, PRKCG, PRRT2, RARS2, RPGRIP1L, RRM2B, RUBCN, SACS, SCN2A, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC52A3, SLC9A6, SPG11, SPG7, SPR, SPTBN2, STUB1, SYNE1, TBP, TCTN2, TGM6, TMEM216, TMEM237, TMEM240, TMEM67, TPP1, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VLDLR, VRK1, WDR81, WFS1, WWOX, ZFYVE26
Painel de expansão de repetição de ataxia
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 13
Cobertura: 100%
Análise de expansão de repetição: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PP2R2B, TBP
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Ataxia cerebelar
● Ataxia episódica
● Hipoplasia pontocerebelar
● Ataxia espinocerebelar
Painel de esclerose lateral amiotrófica (ELA)
A Esclerose Lateral Amiotrófica (ELA) é um distúrbio neurodegenerativo progressivo caracterizado pela degeneração dos neurônios motores superiores e inferiores. A maioria dos casos parece ser esporádica, mas 5-10% dos casos têm história familiar da doença.
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 36
Cobertura: ≥ 99,5% ≥ 20x
ALS2, ANG, C9orf72, CHCHD10, CHMP2B, CSF1R, DCTN1, ERBB4, FIG4, FUS, GRN, HNRNPA1, ITM2B, KIF5A, MAPT, MATR3, NEFH, OPTN, PFN1, PRNP, PRPH, PSEN1, PSEN2, SETX, SIGMAR1, SLC52A3, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, VAPB, VCP
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Esclerose lateral amiotrófica
CentoICU
CentoICU é um painel NGS ampliado que inclui genes explicitamente selecionados para o teste genético de recém-nascidos gravemente enfermos e crianças menores de 24 meses em UTI. Ele é projetado para tratar várias condições genéticas que podem estar presentes no período do recém-nascido ou na primeira infância.
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 25 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 843
Cobertura: ≥ 99,5% ≥ 20x
AARS1, AARS2, AASS, ABAT, ABCA12, ABCA3, ABCB11, ABCC8, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACTA1, ACY1, ADA, ADAMTS13, ADAMTSL2, ADAR, ADK, ADNP, ADSL, AGA, AGK, AGL, AGPAT2, AGPS, AGRN, AGXT, AHCY, AICDA, AIFM1, AIMP1, AKAP9, AKR1D1, AKT2, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALOX12B, ALOXE3, ALPL, ALS2, AMACR, AMN, AMPD1, AMT, ANK1, ANKRD26, ANKS6, ANTXR1, ANTXR2, AP2S1, AP4B1, AP4E1, AP4M1, AP4S1, APOB, APTX, ARG1, ARL6, ARSA, ARSB, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ATIC, ATP1A3, ATP6V0A2, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATPAF2, ATR, ATRX, AUH, B3GLCT, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BICD2, BIN1, BLNK, BOLA3, BRAF, BRAT1, BRCA2, BSCL2, BSND, BTD, BTK, C12orf65, CA12, CACNA1C, CACNB2, CALM1, CAMTA1, CASK, CASR, CAST, CAV1, CAV3, CAVIN1, CBS, CCDC103, CCDC114, CCDC78, CD19, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD59, CD79A, CD79B, CD81, CD96, CDAN1, CDK5RAP2, CDKL5, CDKN1C, CENPJ, CEP152, CEP290, CERS3, CFAP298, CFH, CFHR3, CFL2, CFTR, CHAT, CHD7, CHKB, CHM, CHRNA1, CHRNB1, CHRND, CHRNE, CIDEC, CLCN1, CLCNKA, CLCNKB, CLDN16, CLN3, CLN5, CLN6, CLN8, CLPB, CNTN1, COA5, COG1, COG6, COG7, COL11A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COMP, COQ2, COQ8A, COQ9, CORO1A, COX10, COX15, COX20, COX6B1, CPS1, CPT1A, CPT2, CR2, CRPPA, CRTAP, CTNS, CTPS1, CTSA, CTSD, CUL4B, CXCR4, CYP11B1, CYP11B2, CYP17A1, CYP4F22, CYP7B1, D2HGDH, DBT, DCLRE1C, DDC, DDOST, DDR2, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DIAPH1, DLAT, DLD, DMD, DNA2, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC19, DNM2, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM2, DPYD, DRC1, DSP, DST, DUOX2, DUOXA2, DYSF, EDN3, EEF1A2, EGR2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELANE, ENPP1, EPB42, EPCAM, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FADD, FAH, FANCA, FANCB, FANCC, FANCD2, FANCL, FARS2, FASTKD2, FBN1, FBP1, FBXL4, FGA, FGB, FGFR2, FGFR3, FGG, FH, FIG4, FKBP14, FKRP, FKTN, FOXC1, FOXG1, FOXP3, FOXRED1, FRAS1, FUCA1, G6PC, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GARS1, GATA1, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GFAP, GFM1, GFPT1, GJA1, GJB2, GJB4, GK, GLA, GLB1, GLDC, GLIS3, GLRA1, GLRB, GLUD1, GLYCTK, GMPPB, GNAS, GNE, GNMT, GNPAT, GNPTAB, GP1BA, GP1BB, GP9, GPC3, GPHN, GPSM2, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HCFC1, HESX1, HEXA, HEXB, HGD, HGF, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPGD, HRAS, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPD1, HSPG2, ICOS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IGHMBP2, IGLL1, IKBKB, IL12RB1, IL2RA, IL2RG, IL7R, INS, INSR, INVS, IRF8, ITGA2B, ITGA6, ITGA7, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, JAM3, KAT6A, KAT6B, KBTBD13, KCNE1, KCNH1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF1B, KLF1, KLHL40, KLHL41, KLHL7, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LAMTOR2, LARS2, LAS1L, LCT, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LIPT1, LMBRD1, LMNA, LPIN1, LRBA, LRPPRC, LRRC8A, MAGEL2, MAGT1, MALT1, MAN2B1, MANBA, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCEE, MCM4, MCPH1, MECP2, MED12, MEF2C, MEGF10, MFN2, MFSD8, MITF, MKKS, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MPC1, MPI, MPL, MPV17, MPZ, MRPL3, MRPL44, MSMO1, MTHFR, MTM1, MTMR14, MTO1, MTR, MTRR, MUSK, MVK, MYCN, MYH9, NAA10, NAGA, NAGS, NALCN, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NDUFV2, NEB, NEU1, NEUROG3, NEXN, NFKB2, NFU1, NGF, NGLY1, NHEJ1, NIPAL4, NIPBL, NKX2- 1, NKX2-5, NLRC4, NLRP3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NR0B1, NR3C2, NRAS, NSD1, NSDHL, NUBPL, OAT, OCLN, OCRL, OPA3, OPHN1, ORC1, ORC4, OTC, OXCT1, PAFAH1B1, PAH, PAX2, PAX3, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH19, PCNT, PDCD10, PDE10A, PDHA1, PDHB, PDHX, PDP1, PDSS2, PDX1, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGM1, PHGDH, PHKG2, PHOX2B, PIGA, PIGN, PIGT, PIGV, PIK3CD, PKD2, PKHD1, PKLR, PLCB4, PLEC, PLOD1, PLP1, PMM2, PMP22, PNKP, PNP, PNPLA1, PNPO, PNPT1, POGZ, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU1F1, PPT1, PRDM16, PRKAG2, PROC, PRODH, PROP1, PROS1, PRPS1, PRRT2, PSAP, PSAT1, PSPH, PTPN11, PTPRC, PTRH2, PTS, PURA, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1, RAG1, RAG2, RANBP2, RAPSN, RARS2, RB1, RBBP8, RBM8A, RET, RFT1, RFX5, RFX6, RIT1, RMND1, RNASEH2C, RNASET2, RORC, RPS19, RRM2B, RXYLT1, RYR1, SALL1, SATB2, SBDS, SCN1A, SCN2A, SCN4A, SCN5A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SELENON, SERAC1, SERPINC1, SERPING1, SFTPB, SFTPC, SHOC2, SIL1, SIX3, SIX5, SKI, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC26A2, SLC26A3, SLC2A1, SLC30A2, SLC33A1, SLC3A1, SLC4A1, SLC52A1, SLC52A3, SLC5A1, SLC5A5, SLC6A1, SLC6A3, SLC6A5, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SNAI2, SNX10, SOS1, SOX10, SOX2, SOX9, SPAST, SPEG, SPINK5, SPINT2, SPR, SPRED1, SPTA1, SPTAN1, SPTB, SRD5A3, ST3GAL3, ST3GAL5, STAR, STAT1, STAT3, STIL, STIM1, STS, STT3B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SYNE1, TACO1, TAT, TAZ, TBC1D24, TBCE, TBX19, TBX5, TCAP, TCN2, TFR2, TG, TGM1, TH, THRA, TJP2, TMCO1, TMEM165, STING1, TMEM70, TNFRSF13B, TNFRSF13C, TNFSF4, TNNT1, TP63, TPM2, TPM3, TPO, TPP1, TRIP11, TRMU, TRPV4, TSC1, TSC2, TSFM, TSHB, TSHR, TSPYL1, TTC7A, TTN, TUBA8, TUBB2A, TWNK, UBA1, UGT1A1, UMPS, UNG, UPB1, UQCRC2, UROD, UROS, WAS, WDPCP, WDR62, WDR73, WFS1, WNK1, WT1, ZAP70, ZEB2, ZFP57, ZNF423
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Síndrome de Alagille
● Síndrome de Alagille
● Deficiência de arginase
● Beta-talassemia
● Deficiência de biotinidase
● Doença dos gânglios da base responsiva à biotina-tiamina
● Deficiência de carnitina
● Fibrose cística
● Distonia DOPA responsivo
● Deficiência de fator VII
● Deficiência do transportador de glicose 1
● Acidemia glutárica tipo 1
● Intolerância hereditária à frutose
● Deficiência de sintetase de holocarboxilase
● Doença da urina do xarope de bordo (MSUD)
● Hiperglicinemia não cetótica
● Fenilcetonúria
● Doença de Pompe
● Deficiência de coenzima Q10 primária
● Deficiência de piridoxamina 5 fosfato oxidase
● Epilepsia dependente de piridoxina
● Deficiência de piruvato carboxilase
● Complexo de esclerose tuberosa
● Tirosinemia tipo I
● Deficiência de VLCAD
* A lista não inclui todos os distúrbios cobertos pelo nosso painel
CentoMito ampliado
CentoMito Ampliado cobre todo o genoma mitocondrial (≥97% ≥ 200x cobertura) com detecção de heteroplasmia até 5% junto com genes nucleares relacionados a doenças mitocondriais (≥99,5% ≥20x cobertura).
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 404
Cobertura:
≥ 99,5% ≥ 20x (genes mitocondriais nucleares)
≥97% ≥200x
AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ABCD3, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APTX, ATIC, ATP5F1A, ATP5F1E, ATP7B, ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BRIP1, BTD, C12orf65, CA5A, CASP8, CAT, CAVIN1, CEL, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COA8, COASY, COMT, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRBN, CYB5A, CYB5R3, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DGUOK, DHCR24, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DMPK, DNA2, DNAJC19, DNAJC3, DNM1L, EARS2, ECHS1, ELAC2, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBXL4, FECH, FH, FKBP10, FOXRED1, FTH1, FXN, GARS1, GATM, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPI, GPT2, GPX1, GRHPR, GSR, GTPBP3, HADH, HADHA, HADHB, HAMP, HARS2, HAX1, HCCS, HIBCH, HINT1, HK1, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KARS1, KIF1B, KRT5, L2HGDH, LARS2, LIAS, LIPT1, LONP1, LRPPRC, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFN2, MGME1, MICU1, MIP, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MSRB3, MTFMT, MTO1, MTPAP, MTRR, MUTYH, NADK2, NAGS, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NNT, NTHL1, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OTC, OXCT1, P4HB, PAM16, PANK2, PARK7, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PET100, PEX11B, PHYH, PINK1, PKLR, PNPLA8, PNPO, PNPT1, POLG, POLG2, PPOX, PRODH, PTRH2, PTS, PUS1, PYCR1, PYCR2, QDPR, RARS1, RARS2, RDH11, RMND1, RNASEH1, RNASEL, RPIA, RPL35A, RPS14, RRM2B, SARS2, SBDS, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SECISBP2, SERAC1, SFXN4, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC9A6, SNAP29, SOD1, SOD2, SPG7, SPR, SPTLC2, STAR, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TCIRG1, TFR2, TIMM8A, TK2, TMEM126A, TMEM70, TMLHE, TPI1, TPK1, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUFM, TWNK, TYMP, UNG, UQCC2, UQCRB, UQCRC2, UQCRQ, VARS2, WDR81, WFS1, XPNPEP3, YARS2
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Oftalmoplegia externa progressiva crônica
● Síndrome de Kearns-Sayre
● Síndrome de Leigh e síndrome de Leigh herdada pela mãe
● Doenças mitocondriais
● Encefalomiopatia mitocondrial, acidose láctica e episódios semelhantes a AVC
● Epilepsia mioclônica com fibras vermelhas irregulares
● Encefalomiopatia miogastrointestinal
● Hepatopatias mitocondriais neonatais
● Síndrome de Pearson
Genoma CentoMito
Detalhes sobre o exame
≥ 5% de heteroplasmia mitocondrial pode ser detectada com segurança.
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 37
Cobertura: ≥ 97% ≥ 200x
MT-ND1, MT-ND2, MT-CO1, MT-CO2, MT-ATP8, MT-ATP6, MT-CO3, MT-ND3, MT-ND4L, MT-ND4, MT-ND5, MTND6, MT-CYB, MT-TF, MT-RNR1, MT-TV, MT-RNR2, MT-TL1, MT-TI, MT-TQ, MT-TM, MT-TW, MT-TA, MT-TN, MT-TC, MT-TY, MT-TS1, MT-TD, MT-TK, MT-TG, MT-TR, MT-TH, MT-TS2, MT-TL2, MT-TE, MT-TT, MT-TP
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Oftalmoplegia externa progressiva crônica
● Síndrome de Kearns-Sayre
● Neuropatia óptica hereditária de Leber
● Síndrome de Leigh
● Doenças mitocondriais
CentoNeuro
CentoNeuro é o nosso maior painel, projetado para detectar uma grande variedade de distúrbios neurológicos, de casos de UTI neonatal a demência ou distúrbios do movimento em adultos.
Detalhes sobre o exame
Limitações: DMD é analisado apenas pelo NGS. Se houver alta suspeita diagnóstica de Distrofia Muscular de Duchenne, recomendamos que o médico solicite uma análise de exclusão/duplicação por MLPA direcionada ao gene DMD como um serviço adicional.
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 1493
Cobertura: ≥ 99,5% ≥ 20x
A2M, AAAS, AARS1, AARS2, AASS, ABAT, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABCD3, ABCD4, ABHD12, ABHD5, ACACA, ACAD9, ACADM, ACA DS, ACADSB, ACADVL, ACAT1, ACE, ACKR1, ACO2, ACOX1, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTG1, ACTN4, ACVRL1, ACY1, ADA, ADAM10, ADAMTSL2, ADAR, ADCY5, ADGRG1, ADGRV1, ADK, ADNP, ADSL, AFF2, AFG3L2, AGA, AGK, AGL, AGPS, AGRN, AGXT, AHCY, AHI1, AIFM1, AIMP1, AKAP9, AKT1, AKT3, ALAD, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALOX5AP, ALS2, ALX1, ALX3, ALX4, AMACR, AMN, AMPD1, AMPD2, AMT, ANG, ANK2, ANK3, ANKRD11, ANO10, ANO3, ANO5, ANOS1, ANTXR2, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOE, APP, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARL6IP1, ARSA, ARSB, ARSL, ARV1, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATCAY, ATIC, ATL1, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B3, ATP5F1E, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, AUH, AUTS2, B3GALNT2, B3GLCT, B4GALNT1, B4GALT1, B4GAT1, B9D1, B9D2, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCOR, BCS1L, BDNF, BEAN1, BEST1, BICD2, BIN1, BLOC1S3, BLOC1S6, BOLA3, BRAF, BRAT1, BRCA2, BRWD3, BSCL2, BSND, BTD, C12orf57, C12orf65, C19orf12, C8orf37, C9ORF72, CA2, CA5A, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1F, CACNA1H, CACNA1S, CACNB2, CACNB4, CAMTA1, CAPN3, CARD11, CASK, CASR, CAV1, CAV3, CBL, CBS, CC2D1A, CC2D2A, CCDC28B, CCDC40, CCDC78, CCDC88C, CCM2, CCT5, CD320, CD36, CD59, CD96, CDH15, CDK5RAP2, CDKL5, CDON, CEL, CENPF, CENPJ, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CERS1, CFL2, CHAT, CHCHD10, CHD2, CHD7, CHD8, CHKB, CHMP1A, CHMP2B, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHST14, CHSY1, CIB2, CILK1, CISD2, CISH, CLCN1, CLCN2, CLCN4, CLCNKA, CLCNKB, CLDN16, CLDN19, CLIC2, CLN3, CLN5, CLN6, CLN8, CLPP, CNBP, CNGB3, CNNM2, CNTN1, CNTNAP2, COA5, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL12A1, COL2A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COQ2, COQ4, COQ8A, COQ9, COX10, COX15, COX20, COX6A1, COX6B1, CP, CPA6, CPLANE1, CPS1, CPT1A, CPT2, CR1, CRADD, CRBN, CREBBP, CRIPT, CRPPA, CRYAB, CSF1R, CSF2RB, CSPP1, CSRP3, CST3, CSTB, CTC1, CTDP1, CTNNA3, CTNNB1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUL3, CUL4B, CUL7, CWF19L1, CYB5R3, CYP11B1, CYP11B2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS2, DBT, DCAF17, DCTN1, DCX, DDC, DDHD1, DDHD2, DDOST, DDX3X, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHH, DHTKD1, DIAPH3, DKC1, DLAT, DLD, DLG3, DMD, DMPK, DNA2, DNAH9, DNAJB2, DNAJB6, DNAJC19, DNAJC5, DNAJC6, DNM1, DNM1L, DNM2, DNMT1, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DRD3, DSC3, DST, DTNBP1, DUSP6, DYM, DYNC1H1, DYNC2H1, DYRK1A, DYSF, EARS2, EBP, ECEL1, ECHS1, EDN3, EDNRB, EEF1A2, EFHC1, EFTUD2, EGF, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4E, EIF4G1, ELOVL4, ELOVL5, ELP1, EMD, EMX2, ENO3, ENPP1, ENTPD1, EP300, EPB41L1, EPM2A, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ERLIN1, ERLIN2, ESCO2, ESRRB, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, F2, F5, FA2H, FADD, FAH, FAM126A, FANCB, FARS2, FASTKD2, FBLN5, FBN1, FBN2, FBXL4, FBXO38, FBXO7, FCGR2B, FEZF1, FGA, FGD1, FGD4, FGF10, FGF12, FGF14, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FH, FHL1, FIG4, FKBP10, FKRP, FKTN, FLNA, FLNC, FLRT3, FLVCR1, FLVCR2, FMR1, FOLR1, FOXC1, FOXG1, FOXL2, FOXP1, FOXP2, FOXP3, FOXRED1, FREM1, FRMD7, FRRS1L, FSHB, FTL, FTO, FTSJ1, FUCA1, FUS, FXN, FXYD2, G6PD, GAA, GABRA1, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GALT, GAMT, GAN, GARS1, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GDI1, GDNF, GFAP, GFER, GFM1, GFM2, GFPT1, GIGYF2, GJA1, GJB1, GJB3, GJC2, GK, GLA, GLB1, GLDC, GLE1, GLI2, GLI3, GLRA1, GLRB, GLUD1, GLUL, GM2A, GMPPA, GMPPB, GNAL, GNAO1, GNAS, GNB4, GNE, GNPAT, GNPTAB, GNPTG, GNRH1, GNRHR, GNS, GOSR2, GP1BA, GPC3, GPHN, GPR143, GPT2, GPX1, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GRN, GSN, GSS, GTPBP3, GUF1, GUSB, GYG1, GYS1, HADHA, HADHB, HAMP, HBB, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HEPACAM, HERC2, HESX1, HEXA, HEXB, HFE, HGSNAT, HIBCH, HINT1, HK1, HLCS, HMGCL, HMGCS2, HNRNPA1, HNRNPDL, HNRNPU, HOXA1, HOXD10, HPCA, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HRAS, HS6ST1, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HSPG2, HTRA1, HTRA2, HUWE1, HYAL1, HYDIN, IARS2, IBA57, ICAM1, IDS, IDUA, IER3IP1, IFIH1, IFT140, IFT172, IFT27, IGBP1, IGF1, IGF1R, IGHMBP2, IKBKG, IL11RA, IL17RD, IL1RAPL1, IL1RN, INF2, INPP5E, INS, INVS, IQSEC2, IRX5, ISCA2, ISCU, ITGA7, ITGB3, ITM2B, ITPA, ITPR1, IVD, JAG1, JAM3, KANK1, KARS1, KAT6A, KAT6B, KATNB1, KBTBD13, KCNA1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNE3, KCNJ1, KCNJ10, KCNJ11, KCNK18, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIF11, KIF1A, KIF1B, KIF1C, KIF21A, KIF5A, KIF5C, KIF7, KIRREL3, KISS1, KISS1R, KLHL40, KLHL41, KMT2A, KMT2C, KMT2D, KNL1, KRAS, KRIT1, KRT5, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LBR, LDB3, LDHA, LEP, LEPR, LGI1, LHB, LHX3, LHX4, LIAS, LIMS2, LINS1, LIPA, LIPT1, LITAF, LMBRD1, LMNA, LMNB1, LMOD3, LMX1B, LPIN1, LPIN2, LRBA, LRP2, LRPPRC, LRRK2, LRSAM1, LYRM7, LYST, LYZ, LZTFL1, LZTR1, MAG, MAGEL2, MAGI2, MAGT1, MAMLD1, MAN1B1, MAN2B1, MANBA, MAOA, MAPT, MARS1, MARS2, MASP1, MATR3, MBD5, MBTPS2, MCCC1, MCCC2, MCEE, MCM4, MCOLN1, MCPH1, MECP2, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEGF10, MEIS2, MET, MFN2, MFRP, MFSD2A, MFSD8, MGAT2, MGME1, MIB1, MICU1, MID1, MITF, MKKS, MKS1, MLC1, MLPH, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMP3, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11, MRPL44, MRPS22, MSMO1, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTMR14, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRR, MTTP, MUSK, MVK, MYBPC1, MYBPC3, MYCN, MYH14, MYH2, MYH3, MYH7, MYH8, MYH9, MYO18B, MYO5A, MYO7A, MYOT, MYPN, NAA10, NAGA, NAGLU, NAGS, NALCN, NARS2, NBAS, NBN, NDE1, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NECTIN1, NEDD4L, NEFH, NEK8, NEU1, NEXMIF, NF1, NFIX, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHS, NIPA1, NIPBL, NKX2-1, NLGN3, NLGN4X, NLRP12, NLRP3, NOD2, NOG, NOP56, NOS2, NOS3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NR0B1, NR0B2, NR2F1, NR3C2, NRAS, NRG1, NRXN1, NSD1, NSDHL, NSMF, NSUN2, NT5C2, NTRK1, NTRK2, NUBPL, NXF5, OAT, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPTN, ORC1, OTC, PAFAH1B1, PAH, PAK3, PANK2, PARK7, PAX3, PAX6, PC, PCBD1, PCCA, PCCB, PCDH15, PCDH19, PCNT, PCSK1, PDCD10, PDE6D, PDE8B, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGK1, PGM1, PHC1, PHF6, PHF8, PHGDH, PHKA1, PHOX2B, PHYH, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3CA, PIK3R2, PIK3R5, PINK1, PITX2, PKD2, PLA2G6, PLCB1, PLCG2, PLEC, PLEKHG5, PLK4, PLN, PLOD2, PLP1, PMM2, PMP22, PNKD, PNKP, PNPLA2, PNPLA6, PNPO, PNPT1, POGZ, POLG, POLG2, POLR3A, POLR3B, POMC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, POT1, POU1F1, PPARG, PPOX, PPP2R2B, PPT1, PQBP1, PREPL, PRICKLE1, PRKAG2, PRKCG, PRKCH, PRKN, PRKRA, PRNP, PRODH, PROK2, PROKR2, PROM1, PROP1, PRPH, PRPH2, PRPS1, PRRT2, PRRX1, PRSS12, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSPH, PTCH1, PTEN, PTF1A, PTPN11, PTPRC, PTS, PURA, PUS1, PYCR1, PYCR2, PYGM, QARS1, QDPR, RAB18, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAB7A, RAD21, RAD50, RAF1, RAI1, RANBP2, RAPSN, RARS1, RARS2, RBBP8, RBCK1, RBFOX1, RBM10, RBM8A, RDH5, REEP1, REEP2, RELN, RET, RETREG1, RFT1, RHO, RIMS1, RIN2, RLBP1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF135, RNF170, ROGDI, ROR2, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRM2B, RTN2, RUBCN, RXYLT1, RYR1, SACS, SALL1, SAMHD1, SASS6, SATB2, SBDS, SBF1, SBF2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SELENON, SEMA3A, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD2, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SH3TC2, SHANK2, SHH, SHOC2, SHROOM4, SIGMAR1, SIK1, SIL1, SIX3, SIX6, SKI, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC25A46, SLC27A4, SLC2A1, SLC2A10, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC3A1, SLC4A1, SLC4A4, SLC52A3, SLC5A7, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC9A6, SLC9A9, SLCO1B3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMN1, SMN2, SMPD1, SMS, SNAI2, SNAP29, SNCA, SNCB, SNIP1, SNTA1, SOBP, SOD1, SORL1, SOS1, SOX10, SOX2, SOX3, SPART, SPAST, SPEG, SPG11, SPG21, SPG7, SPR, SPRY4, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SQSTM1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAMBP, STAT1, STIL, STRA6, STRADA, STT3A, STT3B, STUB1, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SZT2, TAC3, TACO1, TACR3, TAF1, TAF2, TAF6, TARDBP, TAS2R38, TAZ, TBC1D20, TBC1D24, TBCE, TBK1, TBL1XR1, TBP, TBX1, TCAP, TCF4, TCTN1, TCTN2, TCTN3, TECPR2, TECR, TECTA, TFAP2A, TFAP2B, TFG, TFR2, TG, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, THRA, TICAM1, TIMM8A, TINF2, TIRAP, TK2, TLR3, TLR5, TMCO1, TMEM126A, TMEM138, TMEM165, TMEM216, TMEM230, TMEM231, TMEM237, TMEM240, TMEM43, TMEM67, TMEM70, TMLHE, TNF, TNFSF4, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TP63, TPK1, TPM2, TPM3, TPO, TPP1, TRAF3, TRAPPC11, TRAPPC9, TREM2, TREX1, TRIM2, TRIM32, TRMT10A, TRMU, TRPC6, TRPM6, TRPM7, TRPS1, TRPV4, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC8, TTI2, TTN, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TWNK, TYMP, TYR, TYROBP, UBA1, UBA5, UBE2A, UBE3A, UBQLN2, UBR1, UCHL1, UMPS, UPB1, UPF3B, UQCRB, UQCRQ, USH2A, USP8, USP9X, VAMP1, VANGL1, VAPB, VCP, VDR, VEGFA, VHL, VIPAS39, VLDLR, VPS13A, VPS13B, VPS35, VPS37A, VPS53, VRK1, WAC, WASHC5, WDPCP, WDR11, WDR45, WDR62, WDR81, WFS1, WNK1, WNT1, WNT10A, WNT3, WNT5A, WNT7A, WWOX, XBP1, XK, YAP1, YARS1, YWHAE, ZBTB16 , ZBTB18, ZDHHC9, ZEB2, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZNF335, ZNF41, ZNF423, ZNF711, ZNF81
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Esclerose lateral amiotrófica
● Artrogripose multiplex congênita
● Ataxia
● Demência
● Dolichoectasia
● Distonia
● Epilepsia
● Enxaqueca hemiplégica familiar
● Demência frontotemporal
● Hipogonadismo hipogonadotrópico
● Deficiência intelectual
● Síndrome de Joubert
● Síndrome de Kallman
● Síndrome de Leigh
● Leucodistrofia e distúrbios da biogênese de peroxissoma
● Síndrome de Meckel
● Encefalomiopatia mitocondrial
● Hepatopatias mitocondriais neonatais
● Hepatopatias mitocondriais neonatais
● Mal de Parkinson
● Doença Refsum
● Paraplegia espástica
● Esclerose tuberosa
● Síndrome de Zellweger
Painel de Ciliopatias
Nosso Painel de Ciliopatias inclui um grupo de distúrbios que causam disfunção ciliar, incluindo Síndrome de Joubert, Bardet-Biedl, Discinesia ciliar primária, síndrome de Meckel, Displasia Esquelética, entre outros.
Detalhes sobre o exame
Se houver suspeita de doença renal policística, o CentoNephro Plus é recomendado, o que inclui a análise de PKD1
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 194
Cobertura: ≥ 99,5% ≥ 20x
ACVR2B, AGPS, AHI1, ALPL, ANKH, ANO5, ARHGAP31, ARL13B, ARL6, ARMC4, ARSL, ATR, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BMP1, BMPR1B, C8ORF37, CANT1, CASR, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDKN1C, CENPF, CENPJ, CEP152, CEP164, CEP290, CEP41, CEP63, CFAP298, CFAP53, CFC1, CHSY1, CILK1, CLCN5, COL10A1, COL9A3, COMP, CPLANE1, CRELD1, CRTAP, CSPP1, DDR2, DHCR7, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, DYM, DYNC2H1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, FGF23, FKBP10, FLNB, GDF1, GDF5, GLI2, GLI3, GNAS, GNPAT, HEXA, HSPG2, HYDIN, HYLS1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, INPP5E, INPPL1, KIF7, LBR, LEFTY2, LEP, LEPR, LIFR, LRP5, LRRC6, LZTFL1, MATN3, MKKS, MKS1, MMP13, MMP21, MMP9, MYO7A, NEK1, NEK8, NKX2-5, NKX3-2, NME8, NODAL, NOG, NPHP1, NPHP3, NR0B2, NSDHL, OFD1, P3H1, PDE6D, PEX7, PHEX, PHF6, PKD1L1, PKD2, PKHD1, PLOD2, PMM2, PNPLA6, POMC, PPARG, PPIB, PRKAR1A, PROM1, PRPH2, PTH1R, RBBP8, RDH5, RHO, RLBP1, ROR2, RPGRIP1L, RSPH1, RSPH4A, RSPH9, RUNX2, SALL1, SALL4, SBDS, SDCCAG8, SERPINF1, SERPINH1, SLC26A2, SLC34A3, SLC35D1, SOX9, SPAG1, TBX5, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNFRSF11B, TRIM32, TRIP11, TRPS1, TRPV4, TTC21B, TTC8, WDPCP, WDR19, WDR34, WDR35, WDR60, WNT5A, WNT7A, ZIC3, ZMYND10, ZNF423
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Síndrome de Bardet-Biedl
● Síndrome heterotáxica
● Síndrome de Joubert
● Discinesia ciliar primária
● Displasia esquelética
● Ciliopatia esquelética
Painel de demência
Nosso painel de demência inclui genes que causam Alzheimer, demência, bem como genes usados para diagnóstico diferencial com sobreposição em qualquer ponto da história natural da doença. Estão incluídas doenças acionáveis que se sobrepõem ao fenótipo (como Doença de Wilson, Doença de Niemann-Pick e Deficiência de Hexosaminidase A). Este painel não detecta a doença de Huntington.
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 57
Cobertura: ≥ 99,5% ≥ 20x
ALS2, ANG, APOE, APP, ARSA, ATL1, ATP7B, ATXN2, BSCL2, C9orf72, CHCHD10, CHMP2B, CP, CSF1R, DCTN1, ERBB4, FIG4, FTL, FUS, GRN, HEXA, HNRNPA1, HSPD1, ITM2B, KIF5A, MAPT, MATR3, NEFH, NOTCH3, NPC1, OPTN, PANK2, PFN1, PRNP, PRPH, PSEN1, PSEN2, REEP1, SETX, SIGMAR1, SLC52A3, SNCA, SOD1, SORL1, SPAST, SPG11, SQSTM1, TARDBP, TBK1, TREM2, TUBA4A, TYROBP, UBE3A, UBQLN2, VAPB, VCP, WASHC5
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Doença de Alzheimer
● Demência
● Demência frontotemporal
● Deficiência de hexosaminidase A
● Doença de Niemann-Pick
● Doença de Wilson
Painel de distonia
Nosso painel de distonia inclui uma seleção de genes que ajudam a diferenciar entre diferentes tipos de distonia, incluindo distonia isolada mais Parkinsonismo, distonia mais mioclonia, distonia mais outra discinesia e distonias complexas. Além disso, nosso painel inclui genes associados à calcificação cerebral familiar primária, distúrbios do metabolismo de metais pesados, neurodegeneração com acúmulo de ferro no cérebro, alguns distúrbios de armazenamento de lipídios, deficiência de arilsulfatase A, leucodistrofias e doenças metabólicas específicas necessárias para o diagnóstico diferencial.
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 88
Cobertura: ≥ 99,5% ≥ 20x
ADAR, ADCY5, ANO3, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, BCAP31, BTD, C19orf12, CACNA1B, CBS, CLN3, CLN5, CLN6, CLN8, COASY, COL6A3, CP, CTSD, CTSF, D2HGDH, DCAF17, DDC, DNAJC5, ECHS1, FA2H, FTL, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GNAL, GRN, HPCA, HPRT1, KCNMA1, KCTD17, KCTD7, MCEE, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PANK2, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKN, PRKRA, PRRT2, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC6A3, SLC6A8, SPR, SUCLA2, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TUBB4A, VPS13A, WDR45, XK
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Distonia complexa
● Desordens do metabolismo de metais pesados
● Distonia responsiva a Dopa
● Distonia
● Leucodistrofia
● Distonia mioclônica
● Calcificação cerebral familiar primária
Painel de epilepsia
Nosso painel de epilepsia é um painel direcionado ao fenótipo que cobre diferentes tipos de síndromes convulsivas, cobrindo a síndrome de Dravet, encefalopatia epiléptica infantil precoce, epilepsia parcial, epilepsia generalizada, ausência de epilepsia, painel de epilepsia mioclônica e hipomagnesemia.
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 547
Cobertura: ≥ 99,5% ≥ 20x
AARS1, AARS2, ABCC8, ABCD1, ABCD3, ACAD9, ACADM, ACADS, ACADVL, ACOX1, ACY1, ADA, ADAMTSL2, ADAR, ADGRG1, ADSL, AFG3L2, AGA, AGK, AGPS, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, ANTXR2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, APP, APTX, ARG1, ARHGEF9, ARSA, ARSB, ARV1, ARX, ASAH1, ASL, ASPA, ASS1, ATM, ATP13A2, ATP1A2, ATP6V0A2, ATP7A, ATP7B, ATPAF2, AUH, B3GALNT2, B3GLCT, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCS1L, BEST1, BOLA3, BRAT1, BTD, C12orf65, C19orf12, CA5A, CACNA1A, CACNA1H, CACNB4, CASK, CAV1, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPP, CNNM2, CNTNAP2, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COL4A1, COL4A2, COQ2, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, CP, CPA6, CPS1, CPT1A, CPT2, CSF1R, CSTB, CTC1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS2, DBT, DCAF17, DDOST, DEPDC5, DGUOK, DHCR7, DHDDS, DKC1, DLAT, DLD, DNAJC5, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DYM, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EGF, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPM2A, ERCC6, ETFA, ETFB, ETFDH, ETHE1, F2, F5, FA2H, FAH, FAM126A, FARS2, FASTKD2, FBN1, FBXL4, FGF12, FH, FHL1, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, FUCA1, FXYD2, GAA, GABRA1, GABRB3, GABRD, GABRG2, GALC, GALNS, GALT, GAMT, GAN, GBA, GBE1, GCDH, GCSH, GFAP, GFER, GFM1, GFM2, GFPT1, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GLUD1, GLUL, GM2A, GMPPA, GNAO1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GPC3, GRIN1, GRIN2A, GRIN2B, GRN, GTPBP3, GUF1, GUSB, HADHA, HADHB, HCFC1, HCN1, HEPACAM, HEXA, HEXB, HGSNAT, HIBCH, HLCS, HMGCL, HMGCS2, HNRNPU, HRAS, HSD17B4, HSPD1, HTRA1, HYAL1, IARS2, IBA57, IDS, IDUA, IFIH1, IQSEC2, ISCA2, ITPA, IVD, JAG1, JAM3, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF5A, L2HGDH, LAMA2, LAMB1, LAMP2, LARGE1, LDB3, LGI1, LIAS, LIPA, LIPT1, LMNB1, LRPPRC, LYRM7, LYST, MAGT1, MAN1B1, MAN2B1, MANBA, MARS2, MBD5, MCCC1, MCCC2, MCOLN1, MECP2, MED17, MEF2C, MFN2, MFSD8, MGAT2, MGME1, MLC1, MLPH, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MRPL44, MRPS22, MTFMT, MTHFR, MTOR, MTR, MYO5A, MYOT, NAGA, NAGLU, NAGS, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NFU1, NGLY1, NHLRC1, NOTCH3, NPC1, NPC2, NRXN1, NUBPL, OAT, OCLN, OCRL, OPA1, OPA3, OTC, PAH, PANK2, PC, PCCA, PCCB, PCDH19, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PGM1, PHYH, PIGA, PIGO, PIGV, PLA2G6, PLCB1, PLCG2, PLP1, PMM2, PNKP, PNPO, PNPT1, POLG, POLG2, POLR3A, POLR3B, PPT1, PRICKLE1, PRODH, PRRT2, PSAP, PSEN1, PTS, PURA, PYCR2, QARS1, QDPR, RAB27A, RAI1, RARS1, RARS2, RBFOX1, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RPIA, RRM2B, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SERAC1, SERPINI1, SGCE, SGSH, SIK1, SLC12A3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC6A1, SLC6A8, SLC7A7, SLC9A6, SMC1A, SMPD1, SNTA1, SOX10, SPART, SPG11, SPG7, SPTAN1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAT1, STT3A, STT3B, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SZT2, TACO1, TBC1D24, TBCE, TCF4, TGFB1, TIMM8A, TINF2, TK2, TMEM126A, TMEM165, TMEM70, TPK1, TPP1, TREM2, TREX1, TRPM6, TRPV4, TSC1, TSC2, TSFM, TTC19, TUBB4A, TUFM, TUSC3, TWNK, TYMP, TYROBP, UBE3A, UMPS, UQCRQ, WDR45, WFS1, WWOX, ZEB2, ZFYVE26
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Síndrome de Aicardi-Goutières
● Síndromes de acúmulo de ferro no cérebro
● Doença de glicosilação congênita
● Síndrome de Dravet
● Encefalopatia epiléptica infantil precoce
● Epilepsia
● Epilepsia (ausência) na infância
● Epilepsia (generalizada) com convulsões febris
● Epilepsia (parcial)
● Encefalopatia epiléptica
● Hipomagnesemia
● Síndrome de Leigh
● Leucodistrofia e distúrbios da biogênese de peroxissoma
● Doença de armazenamento lisossomal
● Depleção de DNA mitocondrial
● Encefalomiopatia mitocondrial
● Epilepsia mioclônica
● Desordem do ciclo da uréia
Painel de deficiência intelectual
Nosso painel inclui genes associados a deficiências intelectuais cobrindo todos os mecanismos de herança, bem como autismo sindrômico e não sindrômico, microcefalia, distúrbios de migração neuronal, regressão do desenvolvimento e Aicardi Goutierres. A detecção da síndrome do X Frágil é possível, pois nosso painel inclui a expansão de repetição de FMR1.
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 599
Cobertura: ≥ 99,5% ≥ 20x
ABAT, ABCD1, ACE, ACSL4, ACTB, ACTG1, ACTN4, ADA, ADAR, ADCY5, ADGRG1, ADK, ADNP, ADSL, AFF2, AHI1, AIMP1, AKAP9, AKT3, ALDH18A1, ALDH5A1, ALDH7A1, ALG11, ALG13, ALX4, AMPD1, AMPD2, AMT, ANK2, ANK3, ANKRD11, AP1S1, AP1S2, AP3B1, AP4B1, AP4M1, ARFGEF2, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARX, ASAH1, ASCL1, ASPM, ASXL1, ASXL3, ATP13A2, ATP1A3, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATR, ATRX, AUTS2, B3GALNT2, B4GAT1, B9D1, B9D2, BBS4, BCAP31, BCKDK, BCOR, BCS1L, BDNF, BLOC1S3, BLOC1S6, BRAF, BRCA2, BRWD3, C12orf57, C12orf65, C19orf12, CA2, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1F, CACNA1H, CACNB2, CAMTA1, CARD11, CASK, CBS, CC2D1A, CC2D2A, CCDC40, CCDC88C, CDH15, CDK5RAP2, CDKL5, CDON, CENPF, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CHD2, CHD7, CHD8, CHMP1A, CHRM3, CIB2, CLCN4, CLIC2, CLN8, CNGB3, CNTNAP2, COASY, COL4A1, CPLANE1, CPT2, CRADD, CRBN, CREBBP, CRIPT, CRPPA, CSPP1, CTC1, CTNNA3, CTNNB1, CUL3, CUL4B, CUL7, CYB5R3, CYP11B1, CYP27A1, DARS2, DCAF17, DCX, DDC, DDX3X, DHCR7, DKC1, DLG3, DNM1, DOCK8, DPYD, DRD3, DST, DTNBP1, DYM, DYNC1H1, DYRK1A, EDN3, EDNRB, EEF1A2, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4E, ELOVL4, EMX2, EP300, EPB41L1, ESRRB, ETFB, EXOSC3, FAM126A, FANCB, FBN1, FGA, FGD1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR1, FMR1, FOLR1, FOXC1, FOXG1, FOXL2, FOXP1, FOXP2, FTL, FTO, FTSJ1, G6PD, GABRB3, GAD1, GAMT, GATM, GCK, GDI1, GDNF, GFAP, GIGYF2, GJC2, GK, GLI2, GLRB, GMPPA, GMPPB, GNAO1, GNAS, GPC3, GPHN, GPT2, GPX1, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, HBB, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HEPACAM, HERC2, HNRNPU, HOXA1, HPRT1, HPS1, HPS4, HPS5, HPS6, HRAS, HSD17B10, HSPD1, HUWE1, HYDIN, IDS, IER3IP1, IFIH1, IGBP1, IGF1, IGF1R, IL1RAPL1, INPP5E, INVS, IQSEC2, IRX5, ITGA7, ITGB3, ITPR1, JAG1, KANK1, KAT6A, KAT6B, KATNB1, KCNB1, KCNC1, KCNC3, KCND3, KCNJ10, KCNK9, KCNMA1, KCNQ2, KCNQ3, KDM5C, KDM6A, KIF11, KIF1A, KIF5C, KIF7, KIRREL3, KMT2A, KMT2C, KMT2D, KNL1, KRAS, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LEP, LINS1, LMX1B, LRBA, LRP2, LZTR1, MAGEL2, MAGT1, MAN1B1, MAOA, MBD5, MBTPS2, MCCC2, MCM4, MCPH1, MECP2, MED12, MED13L, MED17, MED23, MEF2C, MEGF10, MEIS2, MET, MFRP, MFSD2A, MGAT2, MIB1, MID1, MITF, MKKS, MKS1, MLC1, MPDZ, MSMO1, MTHFR, MTM1, MTOR, MTR, MYCN, MYO5A, NAA10, NAGA, NALCN, NDE1, NDP, NDST1, NDUFA1, NECTIN1, NEXMIF, NF1, NFIX, NHEJ1, NHS, NIPA1, NIPBL, NLGN3, NLGN4X, NOTCH2, NPHP1, NPHP3, NR2F1, NR3C2, NRXN1, NSD1, NSDHL, NSUN2, NTRK1, NXF5, OCLN, OCRL, OFD1, OPHN1, ORC1, OTC, PAFAH1B1, PAH, PAK3, PANK2, PAX3, PAX6, PCDH15, PCDH19, PCNT, PDE6D, PDHA1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PHC1, PHF6, PHF8, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3R2, PITX2, PLA2G6, PLCB1, PLK4, PLN, PLP1, PNKP, POGZ, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, POT1, PPOX, PPT1, PQBP1, PRICKLE1, PRKN, PRODH, PRPS1, PRSS12, PTCH1, PTEN, PTPN11, PTPRC, PTS, PURA, PYCR1, PYCR2, QARS1, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAI1, RARS2, RBBP8, RBFOX1, RBM10, RELN, RET, RIMS1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA3, RXYLT1, SALL1, SAMHD1, SASS6, SATB2, SBF1, SCN1A, SCN2A, SCN4A, SCN8A, SCN9A, SCO2, SDCCAG8, SDHA, SEPSECS, SETBP1, SETD2, SGCA, SHANK2, SHH, SHROOM4, SIL1, SIX3, SLC12A5, SLC16A2, SLC25A12, SLC25A15, SLC25A19, SLC27A4, SLC2A1, SLC35A2, SLC35A3, SLC4A4, SLC6A1, SLC6A3, SLC6A8, SLC7A7, SLC9A6, SLC9A9, SLCO1B3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SNAI2, SNAP29, SNIP1, SOBP, SOD1, SOX10, SOX2, SOX3, SPAST, SRD5A3, ST3GAL3, STAMBP, STIL, STRA6, STXBP1, SYN1, SYNE1, SYNGAP1, SYNJ1, SYP, TAF2, TAF6, TBC1D20, TBC1D24, TBCE, TBL1XR1, TBX1, TCF4, TCTN1, TCTN2, TCTN3, TECR, TECTA, TFAP2A, TGIF1, THRA, TIMM8A, TINF2, TMCO1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMLHE, TPO, TRAPPC9, TREX1, TRMT10A, TRPC6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTI2, TTN, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBGCP4, TUBGCP6, TUSC3, TYR, UBE2A, UBE3A, UBR1, UPF3B, USH2A, USP9X, VDR, VLDLR, VPS13B, VPS53, VRK1, WAC, WDR45, WDR62, WDR81, WNT1, WNT5A, WWOX, YWHAE, ZBTB18, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZIC3, ZNF335, ZNF41, ZNF423, ZNF711, ZNF81
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Síndrome de Aicardi-Goutières
● Síndrome de Bardet-Biedl
● Deficiência intelectual AD, AR, XL
● Microcefalia
● Transtornos de migração neuronal
● Autismo sindrômico
Painel neuromuscular
Nosso painel neuromuscular é ideal para pacientes com doenças musculares. Inclui genes que causam doenças neurológicas e abrange distúrbios como miopatias metabólicas, distrofias musculares, Charcot-Marie-Tooth, síndromes miastênicas congênitas, miopatias congênitas, miopatias miofibrilares, miopatias nemalinas e outras síndromes com hipotonia, miotonia ou fraqueza.
Detalhes sobre o exame
Se houver alta suspeita diagnóstica de Distrofia Muscular de Duchenne, recomendamos que o médico solicite uma análise por MLPA direcionada ao gene DMD como um serviço adicional.
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 276
Cobertura: ≥ 99,5% ≥ 20x
AARS1, ABHD5, ACAD9, ACADM, ACADVL, ACTA1, AGL, AGRN, AHCY, AIFM1, ALDOA, ALG14, ALG2, AMPD1, ANO5, ARHGEF10, ARHGEF9, ASAH1, ATL1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, CACNA1S, CAPN3, CASK, CAV1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COX6A1, CPT2, CRPPA, CRYAB, CSRP3, CTDP1, DAG1, DCTN1, DES, DGUOK, DHCR24, DHTKD1, DMD, DMPK, DNA2, DNAJB2, DNAJB6, DNM2, DNMT1, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, EMD, ENO3, ERCC5, ERCC6, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FBLN5, FBN2, FBXO38, FGD4, FHL1, FIG4, FKBP10, FKRP, FKTN, FLNC, GAA, GAN, GARS1, GBA, GBE1, GDAP1, GFPT1, GJB1, GLE1, GLRA1, GLRB, GMPPB, GNB4, GNE, GPHN, GYG1, GYS1, HADHA, HADHB, HINT1, HK1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HSPG2, IGHMBP2, INF2, ISCU, ITGA7, KARS1, KAT6B, KBTBD13, KCNA1, KCNE3, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRSAM1, MAGEL2, MAMLD1, MARS1, MATR3, MED25, MEGF10, MFN2, MICU1, MPV17, MPZ, MTM1, MTMR14, MTMR2, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYH8, MYO18B, MYOT, MYPN, NALCN, NDRG1, NEB, NTRK1, OPA1, OPA3, PDK3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIEZO2, PLEC, PLEKHG5, PLOD2, PMM2, PMP22, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRKAG2, PRPS1, PRX, PYGM, QARS1, RAB7A, RAPSN, RBCK1, REEP1, RETREG1, RRM2B, RXYLT1, RYR1, SBF1, SBF2, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCE, SGCG, SH3TC2, SIL1, SLC12A6, SLC16A1, SLC22A5, SLC25A1, SLC25A20, SLC25A46, SLC5A7, SLC6A5, SMCHD1, SMN1, SMN2, SPEG, SPG11, SPTLC1, SPTLC2, SUCLA2, SYNE1, SYNE2, TAZ, TCAP, TFG, TGFB3, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRPV4, TSEN2, TSFM, TTN, TWNK, TYMP, UBA1, VAMP1, VAPB, VCP, VIPAS39, VRK1, WNK1, XK, YARS1
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Artrogripose
● Miopatia de bethlem
● Doença de Charcot-Marie-Tooth
● Síndrome miastênica congênita
● Miopatia congênita
● Síndrome de Dejerine-Sottas
● Hiperecplexia
● Hipotonia
● Hipertermia maligna
● Miopatias metabólicas
● Distrofia muscular
● Distrofia muscular-distroglicanopatia tipo A
● Miopatia miofibrilar
● Síndrome de miopatia-rabdomiólise
● Miopatia nemalínica
● Miotonia congênita não distrófica
● Distrofia muscular de Ullrich
Painel da doença de Parkinson
Nosso painel da doença de Parkinson (DP) identifica todas as variantes fisiopatologicamente genéticas relevantes para o desenvolvimento e tratamento da doença.
Detalhes sobre o exame
Tempo estimado de entrega do resultado: 40 dias
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 37
Cobertura: ≥ 99,5% ≥ 20x
ATP13A2, ATP1A3, ATP6AP2, ATP7B, C19orf12, DCTN1, DNAJC6, FBXO7, FTL, FUS, GBA, GCH1, GRN, HTRA2, LRRK2, MAPT, PANK2, PARK7, PINK1, PLA2G6, PRKN, PRKRA, RAB39B, SLC20A2, SLC30A10, SLC6A3, SNCA, SNCB, SPR, SYNJ1, TH, TMEM230, UCHL1, VPS13A, VPS35, WDR45
SÍNDROMES E DISTÚRBIOS COMUNS COBERTOS
● Doença de Parkinson
Painel de paraplegia espástica
Nosso painel de paraplegia espástica é recomendado para pacientes que apresentam comprometimento da marcha espástica, fraqueza espástica e hiperreflexia. Nosso painel rastreia formas recessivas, dominantes e ligadas ao X de paraplegia espástica hereditária (HSP) que não podem ser distinguidas apenas por parâmetros clínicos e de neuroimagem.
Detalhes sobre o exame
Tipo de Amostra: Preferencialmente sangue (em Centocard)
Nº de genes: 65
Cobertura: ≥ 99,5% ≥ 20x
ABCD1, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ATL1, ATP13A2, B4GALNT1, BICD2, BSCL2, C12ORF65, C19orf12, CCT5, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, GBA2, GJC2, HSPD1, IBA57, KDM5C, KIF1A, KIF1C, KIF5A, L1CAM, MAG, MARS1, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SACS, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TTR, USP8, VAMP1, VPS37A, WASHC5, ZFYVE26, ZFYVE27