Logo NeoGenomica

Portfólio por gene

Encontre o painel pelo nome ou pelo gene.

Consulte o conteúdo gênico de cada painel e compare as opções de prazo disponíveis.

Explorar painéis

Catálogo de painéis

Uma especialidade, duas possibilidades.

Cada especialidade pode ser investigada pelo NeoPainel, baseado em exoma, ou pelo Super Painel, baseado em genoma completo.

NeoPainel

Baseado em exoma (WES)

Análise direcionada aos genes da especialidade a partir do sequenciamento do exoma, com prazo tradicional e opção rápida.

Super Painel

Baseado em genoma completo (WGS)

Investiga os genes da especialidade com a amplitude do genoma completo, também com prazo tradicional e opção rápida.

86 painéis encontrados em 12 especialidades

Especialidade

Cardiologia

8 opções disponíveis

NeoPainel

NeoPainel para Arritmias

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

347 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK…

Ver conteúdo completo

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK, AGL, AGPAT2, AHCY, AKAP9, ALG1, ALG12, ALMS1, ALPK3, ANK2, ANKRD1, ANKS6, ARSB, ATAD3A, ATP5F1E, ATPAF2, BAG3, BCS1L, BMP2, BOLA3, BRAF, BSCL2, C1QBP, C1QTNF5, CACNA1C, CACNA1D, CACNB2, CALM1, CALM2, CALM3, CAP2, CASQ2, CAV3, CAVIN1, CDH2, CENPE, CEP19, CHKB, CLCA2, CLIC2, CLN3, CNBP, COA5, COA6, COA8, COQ2, COQ4, COX10, COX14, COX15, COX20, COX6B1, COX7B, CPT1A, CPT2, CRYAB, CSRP3, CTNNA3, D2HGDH, DCAF8, DES, DLD, DMD, DMPK, DNAJC19, DNM1L, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, ECHS1, ELAC2, EMD, EPG5, ERBB3, EYA4, FAH, FASTKD2, FBXL4, FHL1, FHOD3, FIG4, FKRP, FKTN, FLAD1, FLNC, FNIP1, FOXRED1, FTO, FUCA1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GBE1, GJA5, GJC1, GLA, GLB1, GMPPB, GNAI2, GNB2, GNB5, GNPTAB, GNS, GPC3, GPD1L, GSN, GTPBP3, GYG1, GYS1, HADH, HADHA, HADHB, HCCS, HCN4, HFE, HGSNAT, HPS1, HRAS, HSD17B10, IDH2, IDUA, ITPA, JPH2, JUP, KAT6B, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH1, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KIF20A, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MCCC2, MCM10, MGME1, MIB1, MLYCD, MMUT, MRPL3, MRPL44, MRPS22, MRPS7, MTFMT, MTO1, MT-TI, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYO6, MYOT, MYOZ2, MYPN, NAGLU, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NEXN, NKX2-5, NONO, NOTCH1, NPPA, NRAP, NRAS, NUBPL, NUP155, PAM16, PCCA, PCCB, PET100, PGM1, PHYH, PIGT, PKP2, PLEKHM2, PLN, PMM2, PNPLA2, POLG, POMT1, PPA2, PPCS, PPP1R13L, PRDM16, PRG4, PRKAG2, PRKAR1A, PSEN1, PSEN2, PSMB4, PSMB8, PSMB9, PTPN11, RAB3GAP2, RAF1, RBCK1, RBM20, RIT1, RMND1, RPL3L, RRAGD, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SGO1, SGSH, SHMT2, SHOC2, SLC19A2, SLC22A5, SLC25A20, SLC25A26, SLC25A3, SLC25A4, SLC30A5, SLC4A3, SLC6A6, SLMAP, SNTA1, SOD2, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TACO1, TAF1A, TAFAZZIN, TANGO2, TAPT1, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TGFB3, TIMMDC1, TMEM126A, TMEM126B, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOP3A, TOR1AIP1, TPM1, TPM3, TRDN, TRIM63, TRIT1, TRMT5, TRNT1, TRPM4, TRPM7, TSC1, TSFM, TTN, TTR, TWNK, TXNRD2, UBR1, UQCRFS1, VCL, VPS33A, WFS1, XPNPEP3, YARS2, ZFHX3

Super Painel

Super Painel para Arritmias

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

347 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK…

Ver conteúdo completo

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK, AGL, AGPAT2, AHCY, AKAP9, ALG1, ALG12, ALMS1, ALPK3, ANK2, ANKRD1, ANKS6, ARSB, ATAD3A, ATP5F1E, ATPAF2, BAG3, BCS1L, BMP2, BOLA3, BRAF, BSCL2, C1QBP, C1QTNF5, CACNA1C, CACNA1D, CACNB2, CALM1, CALM2, CALM3, CAP2, CASQ2, CAV3, CAVIN1, CDH2, CENPE, CEP19, CHKB, CLCA2, CLIC2, CLN3, CNBP, COA5, COA6, COA8, COQ2, COQ4, COX10, COX14, COX15, COX20, COX6B1, COX7B, CPT1A, CPT2, CRYAB, CSRP3, CTNNA3, D2HGDH, DCAF8, DES, DLD, DMD, DMPK, DNAJC19, DNM1L, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, ECHS1, ELAC2, EMD, EPG5, ERBB3, EYA4, FAH, FASTKD2, FBXL4, FHL1, FHOD3, FIG4, FKRP, FKTN, FLAD1, FLNC, FNIP1, FOXRED1, FTO, FUCA1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GBE1, GJA5, GJC1, GLA, GLB1, GMPPB, GNAI2, GNB2, GNB5, GNPTAB, GNS, GPC3, GPD1L, GSN, GTPBP3, GYG1, GYS1, HADH, HADHA, HADHB, HCCS, HCN4, HFE, HGSNAT, HPS1, HRAS, HSD17B10, IDH2, IDUA, ITPA, JPH2, JUP, KAT6B, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH1, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KIF20A, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MCCC2, MCM10, MGME1, MIB1, MLYCD, MMUT, MRPL3, MRPL44, MRPS22, MRPS7, MTFMT, MTO1, MT-TI, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYO6, MYOT, MYOZ2, MYPN, NAGLU, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NEXN, NKX2-5, NONO, NOTCH1, NPPA, NRAP, NRAS, NUBPL, NUP155, PAM16, PCCA, PCCB, PET100, PGM1, PHYH, PIGT, PKP2, PLEKHM2, PLN, PMM2, PNPLA2, POLG, POMT1, PPA2, PPCS, PPP1R13L, PRDM16, PRG4, PRKAG2, PRKAR1A, PSEN1, PSEN2, PSMB4, PSMB8, PSMB9, PTPN11, RAB3GAP2, RAF1, RBCK1, RBM20, RIT1, RMND1, RPL3L, RRAGD, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SGO1, SGSH, SHMT2, SHOC2, SLC19A2, SLC22A5, SLC25A20, SLC25A26, SLC25A3, SLC25A4, SLC30A5, SLC4A3, SLC6A6, SLMAP, SNTA1, SOD2, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TACO1, TAF1A, TAFAZZIN, TANGO2, TAPT1, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TGFB3, TIMMDC1, TMEM126A, TMEM126B, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOP3A, TOR1AIP1, TPM1, TPM3, TRDN, TRIM63, TRIT1, TRMT5, TRNT1, TRPM4, TRPM7, TSC1, TSFM, TTN, TTR, TWNK, TXNRD2, UBR1, UQCRFS1, VCL, VPS33A, WFS1, XPNPEP3, YARS2, ZFHX3

NeoPainel

NeoPainel para Miocardiopatias

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

347 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK…

Ver conteúdo completo

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK, AGL, AGPAT2, AHCY, ALG1, ALG12, ALMS1, ALPK3, ANK2, ANKRD1, ANKS6, ARSB, ATAD3A, ATP5F1E, ATPAF2, BAG3, BCS1L, BMP2, BOLA3, BRAF, BSCL2, C1QBP, C1QTNF5, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CALR3, CAP2, CASQ2, CAV3, CAVIN1, CBL, CDH2, CENPE, CEP19, CHKB, CLIC2, CLN3, CNBP, COA5, COA6, COA8, COQ2, COQ4, COX10, COX14, COX15, COX20, COX6B1, COX7B, CPT1A, CPT2, CRYAB, CSRP3, CTNNA3, D2HGDH, DCAF8, DES, DLD, DMD, DMPK, DNAJC19, DNM1L, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, ECHS1, ELAC2, EMD, EPG5, ERBB3, EYA4, FAH, FASTKD2, FBXL4, FBXO32, FHL1, FHOD3, FIG4, FKRP, FKTN, FLAD1, FLNC, FNIP1, FOXRED1, FTO, FUCA1, FXN, GAA, GATA6, GATAD1, GBE1, GJA5, GLA, GLB1, GMPPB, GNAI2, GNB5, GNPTAB, GNS, GPC3, GPD1L, GSN, GTPBP3, GYG1, GYS1, HADH, HADHA, HADHB, HCCS, HCN4, HFE, HGSNAT, HPS1, HRAS, HSD17B10, IDH2, IDUA, ITPA, JPH2, JUP, KAT6B, KCNA5, KCND3, KCNE2, KCNE3, KCNH1, KCNH2, KCNJ2, KCNJ5, KCNQ1, KIF20A, KLF10, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LMOD2, LZTR1, MAP2K1, MAP2K2, MCCC2, MCM10, MGME1, MIB1, MLYCD, MMUT, MRAS, MRPL3, MRPL44, MRPS22, MRPS7, MTFMT, MTO1, MT-TI, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYLK3, MYO6, MYOT, MYOZ2, MYPN, NAGLU, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEBL, NEU1, NEXN, NF1, NKX2-5, NONO, NPPA, NRAP, NRAS, NUBPL, NUP155, PAM16, PCCA, PCCB, PDLIM3, PET100, PGM1, PHYH, PIGT, PKP2, PLEKHM2, PLN, PMM2, PNPLA2, POLG, POMT1, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRG4, PRKAG2, PRKAR1A, PSEN1, PSEN2, PSMB4, PSMB8, PSMB9, PTPN11, QRSL1, RAB3GAP2, RAF1, RASA1, RBCK1, RBM20, RIT1, RMND1, RPL3L, RPSA, RRAGD, RRAS, RYR2, SCN1B, SCN2B, SCN3B, SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SGSH, SHMT2, SHOC2, SLC19A2, SLC22A5, SLC25A20, SLC25A26, SLC25A3, SLC25A4, SLC30A5, SLC6A6, SOD2, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TACO1, TAF1A, TAFAZZIN, TANGO2, TAPT1, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TFR2, TGFB3, TIMMDC1, TMEM126A, TMEM126B, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOP3A, TOR1AIP1, TPM1, TPM3, TRDN, TRIM63, TRIT1, TRMT5, TRNT1, TRPM7, TSC1, TSFM, TTN, TTR, TWNK, TXNRD2, UBR1, UQCRFS1, VCL, VPS33A, WFS1, XPNPEP3, YARS2, YWHAE

Super Painel

Super Painel para Miocardiopatias

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

347 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK…

Ver conteúdo completo

AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, ADCY5, AGK, AGL, AGPAT2, AHCY, ALG1, ALG12, ALMS1, ALPK3, ANK2, ANKRD1, ANKS6, ARSB, ATAD3A, ATP5F1E, ATPAF2, BAG3, BCS1L, BMP2, BOLA3, BRAF, BSCL2, C1QBP, C1QTNF5, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CALR3, CAP2, CASQ2, CAV3, CAVIN1, CBL, CDH2, CENPE, CEP19, CHKB, CLIC2, CLN3, CNBP, COA5, COA6, COA8, COQ2, COQ4, COX10, COX14, COX15, COX20, COX6B1, COX7B, CPT1A, CPT2, CRYAB, CSRP3, CTNNA3, D2HGDH, DCAF8, DES, DLD, DMD, DMPK, DNAJC19, DNM1L, DOLK, DPM3, DPP6, DSC2, DSG2, DSP, DTNA, ECHS1, ELAC2, EMD, EPG5, ERBB3, EYA4, FAH, FASTKD2, FBXL4, FBXO32, FHL1, FHOD3, FIG4, FKRP, FKTN, FLAD1, FLNC, FNIP1, FOXRED1, FTO, FUCA1, FXN, GAA, GATA6, GATAD1, GBE1, GJA5, GLA, GLB1, GMPPB, GNAI2, GNB5, GNPTAB, GNS, GPC3, GPD1L, GSN, GTPBP3, GYG1, GYS1, HADH, HADHA, HADHB, HCCS, HCN4, HFE, HGSNAT, HPS1, HRAS, HSD17B10, IDH2, IDUA, ITPA, JPH2, JUP, KAT6B, KCNA5, KCND3, KCNE2, KCNE3, KCNH1, KCNH2, KCNJ2, KCNJ5, KCNQ1, KIF20A, KLF10, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LMOD2, LZTR1, MAP2K1, MAP2K2, MCCC2, MCM10, MGME1, MIB1, MLYCD, MMUT, MRAS, MRPL3, MRPL44, MRPS22, MRPS7, MTFMT, MTO1, MT-TI, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYLK3, MYO6, MYOT, MYOZ2, MYPN, NAGLU, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEBL, NEU1, NEXN, NF1, NKX2-5, NONO, NPPA, NRAP, NRAS, NUBPL, NUP155, PAM16, PCCA, PCCB, PDLIM3, PET100, PGM1, PHYH, PIGT, PKP2, PLEKHM2, PLN, PMM2, PNPLA2, POLG, POMT1, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRG4, PRKAG2, PRKAR1A, PSEN1, PSEN2, PSMB4, PSMB8, PSMB9, PTPN11, QRSL1, RAB3GAP2, RAF1, RASA1, RBCK1, RBM20, RIT1, RMND1, RPL3L, RPSA, RRAGD, RRAS, RYR2, SCN1B, SCN2B, SCN3B, SCN5A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SGSH, SHMT2, SHOC2, SLC19A2, SLC22A5, SLC25A20, SLC25A26, SLC25A3, SLC25A4, SLC30A5, SLC6A6, SOD2, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TACO1, TAF1A, TAFAZZIN, TANGO2, TAPT1, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TFR2, TGFB3, TIMMDC1, TMEM126A, TMEM126B, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOP3A, TOR1AIP1, TPM1, TPM3, TRDN, TRIM63, TRIT1, TRMT5, TRNT1, TRPM7, TSC1, TSFM, TTN, TTR, TWNK, TXNRD2, UBR1, UQCRFS1, VCL, VPS33A, WFS1, XPNPEP3, YARS2, YWHAE

NeoPainel

NeoPainel para Síndrome de Marfan

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

71 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ACTA2, ADAMTS10, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A…

Ver conteúdo completo

ACTA2, ADAMTS10, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, GORAB, GZF1, HRAS, IPO8, KIF22, LOX, LTBP2, LTBP3, LTBP4, MED12, MYH11, MYLK, NKAP, NOTCH1, PIK3R1, PLOD1, PPP1CB, PRDM5, PRKG1, PYCR1, RIN2, ROBO4, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469

Super Painel

Super Painel para Síndrome de Marfan

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

71 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ACTA2, ADAMTS10, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A…

Ver conteúdo completo

ACTA2, ADAMTS10, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, GORAB, GZF1, HRAS, IPO8, KIF22, LOX, LTBP2, LTBP3, LTBP4, MED12, MYH11, MYLK, NKAP, NOTCH1, PIK3R1, PLOD1, PPP1CB, PRDM5, PRKG1, PYCR1, RIN2, ROBO4, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469

NeoPainel

NeoPainel para Síndrome de Noonan e Rasopatias

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

33 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1…

Ver conteúdo completo

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MRAS, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRED2, SPRY1, SYNGAP1, YWHAZ

Super Painel

Super Painel para Síndrome de Noonan e Rasopatias

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

33 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1…

Ver conteúdo completo

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MRAS, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRED2, SPRY1, SYNGAP1, YWHAZ

Especialidade

Dermatologia

6 opções disponíveis

NeoPainel

NeoPainel para Ehlers-Danlos e Cutis Laxa

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

62 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7…

Ver conteúdo completo

ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL6A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FLNB, GGCX, GORAB, GZF1, HRAS, KIF22, LOX, LTBP4, MOCS1, PIK3R1, PLOD1, PLP1, PPP1CB, PRDM5, PYCR1, RIN2, SLC2A10, SLC39A13, SMAD2, SMAD3, SPARC, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, ZNF469

Super Painel

Super Painel para Ehlers-Danlos e Cutis Laxa

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

62 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7…

Ver conteúdo completo

ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL6A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FLNB, GGCX, GORAB, GZF1, HRAS, KIF22, LOX, LTBP4, MOCS1, PIK3R1, PLOD1, PLP1, PPP1CB, PRDM5, PYCR1, RIN2, SLC2A10, SLC39A13, SMAD2, SMAD3, SPARC, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, ZNF469

NeoPainel

NeoPainel para Epidermólise Bolhosa com CNV

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

52 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: AAGAB, AQP5, ATP2C1, CAST, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA…

Ver conteúdo completo

AAGAB, AQP5, ATP2C1, CAST, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, CTSC, DSG1, DSG2, DSG4, DSP, DST, ENPP1, EXPH5, FERMT1, FLG2, GJB6, GRIP1, ITGA3, ITGA6, ITGB4, JUP, KANK2, KLHL24, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, POMP, RHBDF2, RSPO1, SERPINB7, SERPINB8, SLURP1, TGM5, TRPV3

Super Painel

Super Painel para Epidermólise Bolhosa com CNV

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

52 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: AAGAB, AQP5, ATP2C1, CAST, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA…

Ver conteúdo completo

AAGAB, AQP5, ATP2C1, CAST, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, CTSC, DSG1, DSG2, DSG4, DSP, DST, ENPP1, EXPH5, FERMT1, FLG2, GJB6, GRIP1, ITGA3, ITGA6, ITGB4, JUP, KANK2, KLHL24, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, POMP, RHBDF2, RSPO1, SERPINB7, SERPINB8, SLURP1, TGM5, TRPV3

NeoPainel

NeoPainel para Ictiose e Displasia Ectodérmica

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

97 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSL, BCS1L…

Ver conteúdo completo

ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSL, BCS1L, CAST, CDH1, CDH3, CDSN, CERS3, CLDN1, COG6, CSTA, CYP4F22, DLX3, DSP, EBP, EDA, EDAR, EDARADD, ELOVL1, ELOVL4, ERCC2, ERCC3, EVC, EVC2, FLG, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, GTF2H5, HOXC13, IFT122, ITPR2, JUP, KDF1, KDSR, KREMEN1, KRT1, KRT10, KRT14, KRT2, KRT74, KRT83, KRT85, KRT9, LIPN, LORICRIN, LOXL2, LRP6, LTBP3, MBTPS2, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKBIA, NIPAL4, NLRP1, PAX9, PEX7, PHGDH, PHYH, PKP1, PNPLA1, PNPLA2, POMP, PORCN, PRKD1, PSAT1, SDR9C7, SERPINB7, SERPINB8, SLC27A4, SMARCAD1, SNAP29, SPINK5, ST14, STS, SULT2B1, SUMF1, TGM1, TGM5, TP63, TWIST2, VPS33B, WDR35, WNT10A, ZMPSTE24

Super Painel

Super Painel para Ictiose e Displasia Ectodérmica

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

97 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSL, BCS1L…

Ver conteúdo completo

ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSL, BCS1L, CAST, CDH1, CDH3, CDSN, CERS3, CLDN1, COG6, CSTA, CYP4F22, DLX3, DSP, EBP, EDA, EDAR, EDARADD, ELOVL1, ELOVL4, ERCC2, ERCC3, EVC, EVC2, FLG, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, GTF2H5, HOXC13, IFT122, ITPR2, JUP, KDF1, KDSR, KREMEN1, KRT1, KRT10, KRT14, KRT2, KRT74, KRT83, KRT85, KRT9, LIPN, LORICRIN, LOXL2, LRP6, LTBP3, MBTPS2, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKBIA, NIPAL4, NLRP1, PAX9, PEX7, PHGDH, PHYH, PKP1, PNPLA1, PNPLA2, POMP, PORCN, PRKD1, PSAT1, SDR9C7, SERPINB7, SERPINB8, SLC27A4, SMARCAD1, SNAP29, SPINK5, ST14, STS, SULT2B1, SUMF1, TGM1, TGM5, TP63, TWIST2, VPS33B, WDR35, WNT10A, ZMPSTE24

Especialidade

Endocrinologia

4 opções disponíveis

NeoPainel

NeoPainel para Baixa Estatura

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

97 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCA2, ACAN, ADAMTS10, ANKRD11, ATP2B1, ATR, BRAF, CAMK2B, CBL, CCDC8…

Ver conteúdo completo

ABCA2, ACAN, ADAMTS10, ANKRD11, ATP2B1, ATR, BRAF, CAMK2B, CBL, CCDC8, CDC6, CDKN1C, CDT1, CEP152, CEP63, CHD7, CLEC16A, COL10A1, COL2A1, COL9A1, COL9A2, COMP, CPAP, CREBBP, CUL7, DBR1, FBN1, FGF8, FGFR1, FGFR3, FTO, GH1, GHR, GHRHR, GHSR, GLI2, GLI3, GNAS, GPKOW, GPR101, HESX1, HRAS, IARS1, IARS2, IGF1, IGF1R, IGF2, IGFALS, IHH, INTS1, KRAS, LHX3, LHX4, LIG4, MAP2K1, MORC2, NHEJ1, NPPC, NPR2, NPR3, NRAS, NUF2, OBSL1, ORC1, ORC4, ORC6, OTX2, PAPSS2, PCNT, PITX2, POU1F1, PRKAR1A, PRKDC, PROP1, PTH1R, PTPN11, QRFPR, RAF1, RBBP8, RNPC3, SHOC2, SHOX, SLC30A7, SMARCC2, SMG8, SOS1, SOX3, SOX9, SRCAP, STAT5B, TAF8, TCF4, TET3, VPS4A, XRCC4, ZNF668, ZPR1

Super Painel

Super Painel para Baixa Estatura

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

97 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCA2, ACAN, ADAMTS10, ANKRD11, ATP2B1, ATR, BRAF, CAMK2B, CBL, CCDC8…

Ver conteúdo completo

ABCA2, ACAN, ADAMTS10, ANKRD11, ATP2B1, ATR, BRAF, CAMK2B, CBL, CCDC8, CDC6, CDKN1C, CDT1, CEP152, CEP63, CHD7, CLEC16A, COL10A1, COL2A1, COL9A1, COL9A2, COMP, CPAP, CREBBP, CUL7, DBR1, FBN1, FGF8, FGFR1, FGFR3, FTO, GH1, GHR, GHRHR, GHSR, GLI2, GLI3, GNAS, GPKOW, GPR101, HESX1, HRAS, IARS1, IARS2, IGF1, IGF1R, IGF2, IGFALS, IHH, INTS1, KRAS, LHX3, LHX4, LIG4, MAP2K1, MORC2, NHEJ1, NPPC, NPR2, NPR3, NRAS, NUF2, OBSL1, ORC1, ORC4, ORC6, OTX2, PAPSS2, PCNT, PITX2, POU1F1, PRKAR1A, PRKDC, PROP1, PTH1R, PTPN11, QRFPR, RAF1, RBBP8, RNPC3, SHOC2, SHOX, SLC30A7, SMARCC2, SMG8, SOS1, SOX3, SOX9, SRCAP, STAT5B, TAF8, TCF4, TET3, VPS4A, XRCC4, ZNF668, ZPR1

NeoPainel

NeoPainel para Diabetes Monogênico (MODY)

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

99 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCC8, ADRA2A, AGPAT2, AIRE, AKT2, ALMS1, APPL1, BLK, BLM, BSCL2…

Ver conteúdo completo

ABCC8, ADRA2A, AGPAT2, AIRE, AKT2, ALMS1, APPL1, BLK, BLM, BSCL2, CAV1, CAVIN1, CEL, CIDEC, CISD2, CNOT1, COQ2, COQ9, CTLA4, DCAF17, DNAJC3, DOCK8, DYRK1B, EIF2AK3, EIF2B1, EIF2S3, EPHX1, FBN1, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, ITCH, JAK1, KCNJ11, KCNJ6, KLF11, LIPE, LMNA, LPL, LRBA, MAFA, MFN2, MNX1, MT-TE, MT-TK, MT-TL1, MT-TS2, MTX2, NEUROD1, NEUROG3, NFKB1, NKX2-2, OTULIN, PAX4, PAX6, PCBD1, PCNT, PCYT1A, PDHX, PDX1, PIK3R1, PLAGL1, PLIN1, POC1A, POLD1, POLR3GL, PPARG, PPP1R15B, PSMA3, PSMB4, PSMB8, PTF1A, RFX6, SH2B1, SIRT1, SLC19A2, SLC29A3, SLC2A2, STAT1, STAT3, STAT5B, TBC1D4, TNFAIP3, TRMT10A, VIM, WFS1, WRN, ZBTB20, ZFP57, ZMPSTE24

Super Painel

Super Painel para Diabetes Monogênico (MODY)

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

99 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCC8, ADRA2A, AGPAT2, AIRE, AKT2, ALMS1, APPL1, BLK, BLM, BSCL2…

Ver conteúdo completo

ABCC8, ADRA2A, AGPAT2, AIRE, AKT2, ALMS1, APPL1, BLK, BLM, BSCL2, CAV1, CAVIN1, CEL, CIDEC, CISD2, CNOT1, COQ2, COQ9, CTLA4, DCAF17, DNAJC3, DOCK8, DYRK1B, EIF2AK3, EIF2B1, EIF2S3, EPHX1, FBN1, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, ITCH, JAK1, KCNJ11, KCNJ6, KLF11, LIPE, LMNA, LPL, LRBA, MAFA, MFN2, MNX1, MT-TE, MT-TK, MT-TL1, MT-TS2, MTX2, NEUROD1, NEUROG3, NFKB1, NKX2-2, OTULIN, PAX4, PAX6, PCBD1, PCNT, PCYT1A, PDHX, PDX1, PIK3R1, PLAGL1, PLIN1, POC1A, POLD1, POLR3GL, PPARG, PPP1R15B, PSMA3, PSMB4, PSMB8, PTF1A, RFX6, SH2B1, SIRT1, SLC19A2, SLC29A3, SLC2A2, STAT1, STAT3, STAT5B, TBC1D4, TNFAIP3, TRMT10A, VIM, WFS1, WRN, ZBTB20, ZFP57, ZMPSTE24

Especialidade

Gastroenterologia e Hepatologia

8 opções disponíveis

NeoPainel

NeoPainel para Colestase Crônica

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

140 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ACOX1, ACOX2, ADK, AKR1D1…

Ver conteúdo completo

ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ACOX1, ACOX2, ADK, AKR1D1, ALAS2, ALDOB, ALG1, ALG8, AMACR, ANKS6, AP1S1, ARG1, ASS1, ATP6AP1, ATP7B, ATP8B1, B4GALT1, BAAT, BCS1L, BLVRA, CC2D2A, CDAN1, CFTR, CLDN1, CLPX, COG6, COG7, CTNS, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, DHCR7, EHHADH, EPHX1, FAH, FECH, FH, G6PD, GALE, GALT, GLI2, GLIS3, GNAS, GPBAR1, HADHA, HADHB, HNF1A, HNF1B, HSD17B4, HSD3B7, INVS, ITCH, JAG1, KIF12, KMT2D, LIPA, LSR, MKS1, MMACHC, MPV17, MVK, MYO5B, NEK8, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, OTC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKD1L1, PKHD1, POLG, POMC, PPM1F, PSKH1, PTF1A, RFX6, SC5D, SCP2, SCYL1, SERAC1, SERPINA1, SLC10A1, SLC10A2, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC27A5, SLC30A10, SLC51A, SLC51B, SLCO1B3, SMPD1, SMS, STXBP2, TALDO1, TBX19, TFAM, TFR2, TJP2, TMEM216, TRAPPC11, TRMU, TSFM, TWNK, UGT1A1, USP53, UTP4, VIPAS39, VMA21, VMA22, VPS33B, VPS50, WDR83OS, ZFYVE19

Super Painel

Super Painel para Colestase Crônica

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

140 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ACOX1, ACOX2, ADK, AKR1D1…

Ver conteúdo completo

ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ACOX1, ACOX2, ADK, AKR1D1, ALAS2, ALDOB, ALG1, ALG8, AMACR, ANKS6, AP1S1, ARG1, ASS1, ATP6AP1, ATP7B, ATP8B1, B4GALT1, BAAT, BCS1L, BLVRA, CC2D2A, CDAN1, CFTR, CLDN1, CLPX, COG6, COG7, CTNS, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, DHCR7, EHHADH, EPHX1, FAH, FECH, FH, G6PD, GALE, GALT, GLI2, GLIS3, GNAS, GPBAR1, HADHA, HADHB, HNF1A, HNF1B, HSD17B4, HSD3B7, INVS, ITCH, JAG1, KIF12, KMT2D, LIPA, LSR, MKS1, MMACHC, MPV17, MVK, MYO5B, NEK8, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, OTC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKD1L1, PKHD1, POLG, POMC, PPM1F, PSKH1, PTF1A, RFX6, SC5D, SCP2, SCYL1, SERAC1, SERPINA1, SLC10A1, SLC10A2, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC27A5, SLC30A10, SLC51A, SLC51B, SLCO1B3, SMPD1, SMS, STXBP2, TALDO1, TBX19, TFAM, TFR2, TJP2, TMEM216, TRAPPC11, TRMU, TSFM, TWNK, UGT1A1, USP53, UTP4, VIPAS39, VMA21, VMA22, VPS33B, VPS50, WDR83OS, ZFYVE19

NeoPainel

NeoPainel para Hemocromatose

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

8 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: BMP2, FTH1, FTL, HAMP, HFE, HJV, SLC40A1, TFR2

Ver conteúdo completo

BMP2, FTH1, FTL, HAMP, HFE, HJV, SLC40A1, TFR2

Super Painel

Super Painel para Hemocromatose

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

8 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: BMP2, FTH1, FTL, HAMP, HFE, HJV, SLC40A1, TFR2

Ver conteúdo completo

BMP2, FTH1, FTL, HAMP, HFE, HJV, SLC40A1, TFR2

NeoPainel

NeoPainel para Hipertrigliceridemias e Pancreatites

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

53 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCA1, AGPAT2, AKT2, APOA5, APOC2, APOE, BANF1, BSCL2, CASR, CAV1…

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ABCA1, AGPAT2, AKT2, APOA5, APOC2, APOE, BANF1, BSCL2, CASR, CAV1, CAVIN1, CFTR, CIDEC, CLDN2, CPA1, CTRC, CYP27A1, DYRK1B, FBN1, GPD1, GPIHBP1, INSR, KCNJ6, LIPA, LIPE, LMF1, LMNA, LMNB2, LPIN1, LPL, MFN2, MTX2, NSMCE2, OTULIN, PIK3R1, PLIN1, POLD1, POLR3A, POMP, PPARG, PRIM1, PRSS1, PSMA3, PSMB4, PSMB8, PSMB9, SLC25A24, SMPD1, SPINK1, SPRTN, UBR1, WRN, ZMPSTE24

Super Painel

Super Painel para Hipertrigliceridemias e Pancreatites

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

53 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCA1, AGPAT2, AKT2, APOA5, APOC2, APOE, BANF1, BSCL2, CASR, CAV1…

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ABCA1, AGPAT2, AKT2, APOA5, APOC2, APOE, BANF1, BSCL2, CASR, CAV1, CAVIN1, CFTR, CIDEC, CLDN2, CPA1, CTRC, CYP27A1, DYRK1B, FBN1, GPD1, GPIHBP1, INSR, KCNJ6, LIPA, LIPE, LMF1, LMNA, LMNB2, LPIN1, LPL, MFN2, MTX2, NSMCE2, OTULIN, PIK3R1, PLIN1, POLD1, POLR3A, POMP, PPARG, PRIM1, PRSS1, PSMA3, PSMB4, PSMB8, PSMB9, SLC25A24, SMPD1, SPINK1, SPRTN, UBR1, WRN, ZMPSTE24

NeoPainel

NeoPainel para Pancreatites

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

12 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: APOA5, APOC2, CASR, CFTR, CPA1, CTRC, GPIHBP1, LMF1, LPL, PRSS1…

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APOA5, APOC2, CASR, CFTR, CPA1, CTRC, GPIHBP1, LMF1, LPL, PRSS1, SPINK1, TRPV6

Super Painel

Super Painel para Pancreatites

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

12 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: APOA5, APOC2, CASR, CFTR, CPA1, CTRC, GPIHBP1, LMF1, LPL, PRSS1…

Ver conteúdo completo

APOA5, APOC2, CASR, CFTR, CPA1, CTRC, GPIHBP1, LMF1, LPL, PRSS1, SPINK1, TRPV6

Especialidade

Hematologia e Imunologia

10 opções disponíveis

NeoPainel

NeoPainel para Anemia de Fanconi com CNV

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

184 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCB7, ABCD4, ABCG5, ABCG8, ACD, ADA, ADA2, ADH5, AK1, ALAS2…

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ABCB7, ABCD4, ABCG5, ABCG8, ACD, ADA, ADA2, ADH5, AK1, ALAS2, ALDOA, AMMECR1, AMN, ANK1, APOB, ATP11C, ATRX, BOLA2, BPGM, BRCA1, BRCA2, BRIP1, CBLIF, CD46, CD59, CDAN1, CDIN1, CFB, CFH, CFI, COL4A1, COQ2, COX4I1, COX4I2, CPOX, CTC1, CUBN, CYB5R3, DHFR, DKC1, DNAJC19, DNAJC21, EFL1, EPB41, EPB42, EPO, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FECH, FTCD, G6PD, GATA1, GCLC, GLRX5, GPI, GSR, GSS, HBA1, HBA2, HBB, HK1, HMOX1, HSPA9, IREB2, IVD, KCNN4, KIF23, KLF1, LARS2, LCAT, LMBRD1, LPIN2, MAD2L2, MDM4, MMAA, MMAB, MMACHC, MMADHC, MMUT, MPIG6B, MTHFD1, MTR, MTRR, MYSM1, NBN, NHP2, NOP10, NT5C3A, PALB2, PANK2, PARN, PCCA, PCCB, PFKM, PGK1, PIEZO1, PKLR, PNPO, PRF1, PUS1, RACGAP1, RAD51, RAD51C, RFWD3, RGL2, RHAG, RPL10, RPL10A, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL3, RPL31, RPL34, RPL35, RPL35A, RPL5, RPLP0, RPS10, RPS11, RPS14, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS28, RPS29, RPS7, RTEL1, SBDS, SC5D, SEC23B, SLC11A2, SLC19A1, SLC19A2, SLC25A38, SLC2A1, SLC46A1, SLC4A1, SLX4, SPTA1, SPTB, SRC, SRP54, SRP72, STEAP3, TALDO1, TCN2, TERT, TFRC, TGFB1, THBD, TINF2, TKFC, TMPRSS6, TP53, TPI1, TRNT1, TSR2, UBE2T, UMPS, UROD, UROS, VPS13A, VPS4A, WRAP53, XRCC2, YARS2, ZCCHC8

Super Painel

Super Painel para Anemia de Fanconi com CNV

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

184 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCB7, ABCD4, ABCG5, ABCG8, ACD, ADA, ADA2, ADH5, AK1, ALAS2…

Ver conteúdo completo

ABCB7, ABCD4, ABCG5, ABCG8, ACD, ADA, ADA2, ADH5, AK1, ALAS2, ALDOA, AMMECR1, AMN, ANK1, APOB, ATP11C, ATRX, BOLA2, BPGM, BRCA1, BRCA2, BRIP1, CBLIF, CD46, CD59, CDAN1, CDIN1, CFB, CFH, CFI, COL4A1, COQ2, COX4I1, COX4I2, CPOX, CTC1, CUBN, CYB5R3, DHFR, DKC1, DNAJC19, DNAJC21, EFL1, EPB41, EPB42, EPO, ERCC4, ERCC6L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FECH, FTCD, G6PD, GATA1, GCLC, GLRX5, GPI, GSR, GSS, HBA1, HBA2, HBB, HK1, HMOX1, HSPA9, IREB2, IVD, KCNN4, KIF23, KLF1, LARS2, LCAT, LMBRD1, LPIN2, MAD2L2, MDM4, MMAA, MMAB, MMACHC, MMADHC, MMUT, MPIG6B, MTHFD1, MTR, MTRR, MYSM1, NBN, NHP2, NOP10, NT5C3A, PALB2, PANK2, PARN, PCCA, PCCB, PFKM, PGK1, PIEZO1, PKLR, PNPO, PRF1, PUS1, RACGAP1, RAD51, RAD51C, RFWD3, RGL2, RHAG, RPL10, RPL10A, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL3, RPL31, RPL34, RPL35, RPL35A, RPL5, RPLP0, RPS10, RPS11, RPS14, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS28, RPS29, RPS7, RTEL1, SBDS, SC5D, SEC23B, SLC11A2, SLC19A1, SLC19A2, SLC25A38, SLC2A1, SLC46A1, SLC4A1, SLX4, SPTA1, SPTB, SRC, SRP54, SRP72, STEAP3, TALDO1, TCN2, TERT, TFRC, TGFB1, THBD, TINF2, TKFC, TMPRSS6, TP53, TPI1, TRNT1, TSR2, UBE2T, UMPS, UROD, UROS, VPS13A, VPS4A, WRAP53, XRCC2, YARS2, ZCCHC8

NeoPainel

NeoPainel para Imunodeficiências Primárias e Doenças Inflamatórias

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

583 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: A2ML1, ABCD4, ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS3, ADAR…

Ver conteúdo completo

A2ML1, ABCD4, ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS3, ADAR, ADNP, AGA, AICDA, AIRE, AK2, ALG1, ALG12, ALPI, ALPK1, ANGPT1, AP1S3, AP3B1, AP3D1, APOL1, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRCA1, BRCA2, BRIP1, BTK, BUB1B, C1QA, C1QB, C1QC, C1R, C1S, C8A, C8B, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CCBE1, CCDC39, CCDC40, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CDK9, CDSN, CEBPE, CFAP298, CFAP300, CFAP418, CFB, CFD, CFH, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHAMP1, CHD1, CHD7, CIB1, CIITA, CLCN7, CLEC7A, CLPB, CNBP, COG6, COG7, COLEC11, COPA, CORO1A, CPN1, CR2, CREBBP, CRIPT, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1B, DCLRE1C, DEAF1, DEF6, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC21, DNAL1, DNASE1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DRC2, DRC4, DSG1, DTNBP1, EFL1, EGFR, ELANE, ELF4, ELP1, EPCAM, EPG5, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ETV6, EXTL3, F12, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FBXL4, FCGR2A, FCGR3A, FCGRT, FCHO1, FCN3, FERMT3, FMO3, FNIP1, FOXI3, FOXN1, FOXP3, FPR1, FPR2, G6PC3, G6PD, GAD1, GALNS, GAS2L2, GATA1, GATA2, GFI1, GINS1, GSS, GTF2H5, GUCY2C, HAVCR2, HAX1, HCK, HELLS, HGSNAT, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HTR1A, HTRA2, HYDIN, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17A, IL17F, IL17RA, IL17RC, IL18, IL18BP, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGAM, ITGB2, ITK, IVD, IVNS1ABP, JAGN1, JAK1, JAK3, KDM6A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LEP, LIG1, LIG4, LPIN2, LRBA, LRRC56, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MBL2, MC2R, MCIDAS, MCM4, MEFV, MGP, MMAA, MMAB, MMACHC, MMUT, MOGS, MPI, MPL, MPO, MRE11, MRTFA, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYO5B, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFASC, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NGF, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NME8, NOD2, NOP10, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, ODAD3, ODAD4, ORAI1, OSTM1, OTULIN, OXCT1, PALB2, PARN, PAX1, PCCA, PCCB, PEPD, PGM3, PI4KA, PIK3CD, PIK3R1, PLCG2, PLEKHM1, PLG, PLVAP, PMM2, PMS2, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, PPP1R21, PRF1, PRKCD, PRKDC, PSEN1, PSENEN, PSMA3, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTPRC, RAB27A, RAC2, RAD50, RAD51, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, REL, RELA, RELB, RET, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RORC, RPL11, RPL15, RPL18, RPL19, RPL26, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SAMD9, SAMD9L, SAMHD1, SART3, SBDS, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEMA3E, SERAC1, SERPING1, SGPL1, SH2D1A, SH3BP2, SH3KBP1, SKIC2, SKIC3, SLC29A3, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC39A8, SLC46A1, SLK, SLX4, SMARCAL1, SMARCD2, SNAI2, SNX10, SP110, SPAG1, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STING1, STK36, STK4, STN1, STX11, STXBP2, TAFAZZIN, TALDO1, TAP1, TAP2, TAPBP, TBCE, TBK1, TBX1, TBXAS1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, TGFB1, TGFB3, TGFBR1, THBD, TICAM1, TINF2, TIRAP, TLR3, TLR7, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B, TPI1, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRNT1, TRPS1, TSR2, TTC12, TTC7A, TYK2, UBE2T, UMPS, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VIPAS39, VPS13B, VPS33B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, XRCC2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341

Super Painel

Super Painel para Imunodeficiências Primárias e Doenças Inflamatórias

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

583 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: A2ML1, ABCD4, ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS3, ADAR…

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A2ML1, ABCD4, ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS3, ADAR, ADNP, AGA, AICDA, AIRE, AK2, ALG1, ALG12, ALPI, ALPK1, ANGPT1, AP1S3, AP3B1, AP3D1, APOL1, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRCA1, BRCA2, BRIP1, BTK, BUB1B, C1QA, C1QB, C1QC, C1R, C1S, C8A, C8B, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CCBE1, CCDC39, CCDC40, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CDK9, CDSN, CEBPE, CFAP298, CFAP300, CFAP418, CFB, CFD, CFH, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHAMP1, CHD1, CHD7, CIB1, CIITA, CLCN7, CLEC7A, CLPB, CNBP, COG6, COG7, COLEC11, COPA, CORO1A, CPN1, CR2, CREBBP, CRIPT, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1B, DCLRE1C, DEAF1, DEF6, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC21, DNAL1, DNASE1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DRC2, DRC4, DSG1, DTNBP1, EFL1, EGFR, ELANE, ELF4, ELP1, EPCAM, EPG5, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ETV6, EXTL3, F12, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FBXL4, FCGR2A, FCGR3A, FCGRT, FCHO1, FCN3, FERMT3, FMO3, FNIP1, FOXI3, FOXN1, FOXP3, FPR1, FPR2, G6PC3, G6PD, GAD1, GALNS, GAS2L2, GATA1, GATA2, GFI1, GINS1, GSS, GTF2H5, GUCY2C, HAVCR2, HAX1, HCK, HELLS, HGSNAT, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HTR1A, HTRA2, HYDIN, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17A, IL17F, IL17RA, IL17RC, IL18, IL18BP, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGAM, ITGB2, ITK, IVD, IVNS1ABP, JAGN1, JAK1, JAK3, KDM6A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LEP, LIG1, LIG4, LPIN2, LRBA, LRRC56, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MBL2, MC2R, MCIDAS, MCM4, MEFV, MGP, MMAA, MMAB, MMACHC, MMUT, MOGS, MPI, MPL, MPO, MRE11, MRTFA, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYO5B, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFASC, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NGF, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NME8, NOD2, NOP10, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, ODAD3, ODAD4, ORAI1, OSTM1, OTULIN, OXCT1, PALB2, PARN, PAX1, PCCA, PCCB, PEPD, PGM3, PI4KA, PIK3CD, PIK3R1, PLCG2, PLEKHM1, PLG, PLVAP, PMM2, PMS2, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, PPP1R21, PRF1, PRKCD, PRKDC, PSEN1, PSENEN, PSMA3, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTPRC, RAB27A, RAC2, RAD50, RAD51, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, REL, RELA, RELB, RET, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RORC, RPL11, RPL15, RPL18, RPL19, RPL26, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SAMD9, SAMD9L, SAMHD1, SART3, SBDS, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEMA3E, SERAC1, SERPING1, SGPL1, SH2D1A, SH3BP2, SH3KBP1, SKIC2, SKIC3, SLC29A3, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC39A8, SLC46A1, SLK, SLX4, SMARCAL1, SMARCD2, SNAI2, SNX10, SP110, SPAG1, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STING1, STK36, STK4, STN1, STX11, STXBP2, TAFAZZIN, TALDO1, TAP1, TAP2, TAPBP, TBCE, TBK1, TBX1, TBXAS1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, TGFB1, TGFB3, TGFBR1, THBD, TICAM1, TINF2, TIRAP, TLR3, TLR7, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B, TPI1, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRNT1, TRPS1, TSR2, TTC12, TTC7A, TYK2, UBE2T, UMPS, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VIPAS39, VPS13B, VPS33B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, XRCC2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341

NeoPainel

NeoPainel para Neoplasias Mieloides

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

97 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ABL1, ANKRD26, ASXL1, ASXL2, ATM, ATRX, BCOR, BCORL1, BLM, BRAF…

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ABL1, ANKRD26, ASXL1, ASXL2, ATM, ATRX, BCOR, BCORL1, BLM, BRAF, CALR, CBL, CBLB, CBLC, CCND2, CDKN2A, CDKN2B, CEBPA, CHEK2, CREBBP, CSF3R, CSNK1A1, CTCF, CUX1, DDX41, DHX15, DNMT3A, ELANE, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA1, GATA2, GNAS, GNB1, HRAS, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KDM6A, KIT, KMT2A, KMT2D, KRAS, LUC7L2, MPL, MSH2, MYC, MYD88, NF1, NOTCH1, NOTCH2, NPM1, NRAS, PAX5, PDGFRA, PHF6, PIGA, PML, PPM1D, PRPF8, PTEN, PTPN11, RAD21, RB1, RBBP6, RUNX1, SAMD9, SAMD9L, SBDS, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRP72, SRSF2, STAG1, STAG2, STAT3, STAT5B, STK11, TERC, TERT, TET2, TP53, U2AF1, U2AF2, UBA1, WT1, ZRSR2

Super Painel

Super Painel para Neoplasias Mieloides

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

97 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ABL1, ANKRD26, ASXL1, ASXL2, ATM, ATRX, BCOR, BCORL1, BLM, BRAF…

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ABL1, ANKRD26, ASXL1, ASXL2, ATM, ATRX, BCOR, BCORL1, BLM, BRAF, CALR, CBL, CBLB, CBLC, CCND2, CDKN2A, CDKN2B, CEBPA, CHEK2, CREBBP, CSF3R, CSNK1A1, CTCF, CUX1, DDX41, DHX15, DNMT3A, ELANE, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA1, GATA2, GNAS, GNB1, HRAS, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KDM6A, KIT, KMT2A, KMT2D, KRAS, LUC7L2, MPL, MSH2, MYC, MYD88, NF1, NOTCH1, NOTCH2, NPM1, NRAS, PAX5, PDGFRA, PHF6, PIGA, PML, PPM1D, PRPF8, PTEN, PTPN11, RAD21, RB1, RBBP6, RUNX1, SAMD9, SAMD9L, SBDS, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRP72, SRSF2, STAG1, STAG2, STAT3, STAT5B, STK11, TERC, TERT, TET2, TP53, U2AF1, U2AF2, UBA1, WT1, ZRSR2

NeoPainel

NeoPainel para Síndromes de Febre Periódica

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

41 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ADA2, ADAM17, AP1S3, ASRGL1, CARD14, COPA, ELANE, FOXP3, HAVCR2, IL10…

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ADA2, ADAM17, AP1S3, ASRGL1, CARD14, COPA, ELANE, FOXP3, HAVCR2, IL10, IL10RA, IL10RB, IL1RN, IL36RN, LACC1, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NOD2, OTULIN, PLCG2, PSMB8, PSMG2, PSTPIP1, RBCK1, RNF31, SH3BP2, SLC29A3, STING1, TNFAIP3, TNFRSF11A, TNFRSF1A, TRIM22, TTC7A, WAS, XIAP

Super Painel

Super Painel para Síndromes de Febre Periódica

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

41 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ADA2, ADAM17, AP1S3, ASRGL1, CARD14, COPA, ELANE, FOXP3, HAVCR2, IL10…

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ADA2, ADAM17, AP1S3, ASRGL1, CARD14, COPA, ELANE, FOXP3, HAVCR2, IL10, IL10RA, IL10RB, IL1RN, IL36RN, LACC1, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NOD2, OTULIN, PLCG2, PSMB8, PSMG2, PSTPIP1, RBCK1, RNF31, SH3BP2, SLC29A3, STING1, TNFAIP3, TNFRSF11A, TNFRSF1A, TRIM22, TTC7A, WAS, XIAP

NeoPainel

NeoPainel para Trombofilias

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

30 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ADAMTS13, CBS, F10, F11, F12, F13A1, F13B, FGA, FGB, FGG…

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ADAMTS13, CBS, F10, F11, F12, F13A1, F13B, FGA, FGB, FGG, GGCX, HRG, LMAN1, MCFD2, MPL, PIGA, PLAT, PLG, PROC, PROCR, PROS1, PROZ, SERPINC1, SERPIND1, SERPINE1, SERPINF2, TFPI, THBD, VKORC1, VWF

Super Painel

Super Painel para Trombofilias

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

30 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ADAMTS13, CBS, F10, F11, F12, F13A1, F13B, FGA, FGB, FGG…

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ADAMTS13, CBS, F10, F11, F12, F13A1, F13B, FGA, FGB, FGG, GGCX, HRG, LMAN1, MCFD2, MPL, PIGA, PLAT, PLG, PROC, PROCR, PROS1, PROZ, SERPINC1, SERPIND1, SERPINE1, SERPINF2, TFPI, THBD, VKORC1, VWF

Especialidade

Medicina Reprodutiva

4 opções disponíveis

NeoPainel

NeoPainel para Infertilidade Masculina

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

138 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ACTL9, ADGRG2, AK7, AKAP4, AKAP9, ARMC2, ASZ1, AURKC, C14ORF39, CATIP…

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ACTL9, ADGRG2, AK7, AKAP4, AKAP9, ARMC2, ASZ1, AURKC, C14ORF39, CATIP, CATSPER1, CATSPER2, CATSPERT, CCDC146, CCDC34, CCDC62, CDC14A, CEP112, CEP131, CEP19, CFAP251, CFAP43, CFAP44, CFAP45, CFAP47, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DAZL, DDX25, DMC1, DMRT1, DNAH1, DNAH10, DNAH17, DNAH2, DNAH6, DNAH8, DNHD1, DPY19L2, DRC1, DZIP1, ELMO1, ESR2, FAM47C, FANCM, FBXO43, FKBP4, FKBP6, FSIP2, GALNTL5, GCNA, GGN, HENMT1, HIPK4, HORMAD1, HSF2, IFT74, KASH5, KLHL10, M1AP, MAGEE2, MCIDAS, MCM8, MCMDC2, MEI1, MEIOB, MMRN1, MNS1, MOV10L1, MSH4, MSH5, NANOS1, NR5A1, ODF4, PDHA2, PGK2, PIWIL2, PLCZ1, PMFBP1, PNLDC1, PPP2R3C, PRM1, PRM2, QRICH2, RABL2A, RBBP7, REC8, RNF212, ROS1, RPL10L, SCAPER, SEPTIN12, SEPTIN4, SHOC1, SLC26A8, SOHLH1, SOX8, SPAG17, SPATA16, SPATA3, SPEF2, SPINK2, STAG3, STK33, STRA8, SUN1, SUN5, SYCP2, SYCP3, TAF4B, TAF7L, TBCCD1, TDRD6, TDRD9, TDRKH, TEKT4, TERB1, TERB2, TEX11, TEX13B, TEX14, TEX15, TNP1, TSGA10, TTC21A, TTC29, TTLL9, USP26, USP9Y, WDR19, XRCC2, ZMYND15, ZPBP, ZSWIM7

Super Painel

Super Painel para Infertilidade Masculina

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

138 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ACTL9, ADGRG2, AK7, AKAP4, AKAP9, ARMC2, ASZ1, AURKC, C14ORF39, CATIP…

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ACTL9, ADGRG2, AK7, AKAP4, AKAP9, ARMC2, ASZ1, AURKC, C14ORF39, CATIP, CATSPER1, CATSPER2, CATSPERT, CCDC146, CCDC34, CCDC62, CDC14A, CEP112, CEP131, CEP19, CFAP251, CFAP43, CFAP44, CFAP45, CFAP47, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DAZL, DDX25, DMC1, DMRT1, DNAH1, DNAH10, DNAH17, DNAH2, DNAH6, DNAH8, DNHD1, DPY19L2, DRC1, DZIP1, ELMO1, ESR2, FAM47C, FANCM, FBXO43, FKBP4, FKBP6, FSIP2, GALNTL5, GCNA, GGN, HENMT1, HIPK4, HORMAD1, HSF2, IFT74, KASH5, KLHL10, M1AP, MAGEE2, MCIDAS, MCM8, MCMDC2, MEI1, MEIOB, MMRN1, MNS1, MOV10L1, MSH4, MSH5, NANOS1, NR5A1, ODF4, PDHA2, PGK2, PIWIL2, PLCZ1, PMFBP1, PNLDC1, PPP2R3C, PRM1, PRM2, QRICH2, RABL2A, RBBP7, REC8, RNF212, ROS1, RPL10L, SCAPER, SEPTIN12, SEPTIN4, SHOC1, SLC26A8, SOHLH1, SOX8, SPAG17, SPATA16, SPATA3, SPEF2, SPINK2, STAG3, STK33, STRA8, SUN1, SUN5, SYCP2, SYCP3, TAF4B, TAF7L, TBCCD1, TDRD6, TDRD9, TDRKH, TEKT4, TERB1, TERB2, TEX11, TEX13B, TEX14, TEX15, TNP1, TSGA10, TTC21A, TTC29, TTLL9, USP26, USP9Y, WDR19, XRCC2, ZMYND15, ZPBP, ZSWIM7

NeoPainel

NeoPainel de Portador Plus

Baseado em genoma completo (WGS)

Detalhes

Método-base

Genoma completo PCR-free de segunda geração, cobertura média mínima de 30x, máscara de 1.059 genes e testes dedicados para X-Frágil e SMN1.

Genes

1059 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Variantes pontuais, CNVs, variantes estruturais, expansão CGG do FMR1 e número de cópias dos éxons 7 e 8 de SMN1.

Prévia: AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC6, ABCC8, ABCD1, ABCD3, ABCD4…

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AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC6, ABCC8, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACOX2, ACSF3, ACTA2, ACTC1, ACVRL1, ACY1, ADA, ADAMTS13, ADAMTS2, ADGRG1, ADGRV1, ADK, AGA, AGL, AGPAT2, AGPS, AGRN, AGXT, AHCY, AHI1, AICDA, AIPL1, AIRE, AK2, AKR1D1, AKT2, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG14, ALG2, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMACR, AMN, AMPD2, AMT, ANO10, ANTXR2, AP3B1, APC, APOA5, APOB, APOC2, APRT, AQP2, ARG1, ARL13B, ARL6, ARPC1B, ARSA, ARSB, ARX, ASCC3, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AUH, AVPR2, B2M, B9D1, B9D2, BAAT, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCKDK, BCL10, BCS1L, BLM, BLNK, BLOC1S3, BLOC1S6, BMP1, BMPR1A, BRCA1, BRCA2, BRIP1, BSND, BTD, BTK, C19ORF12, C3, CA5A, CACNA1S, CAD, CALM1, CALM2, CALM3, CAPN3, CARD11, CARMIL2, CASP8, CASQ2, CASR, CAV3, CAVIN1, CBLIF, CBS, CC2D2A, CCDC8, CCDC88C, CCN6, CD247, CD27, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD70, CD79A, CD79B, CD8A, CDCA7, CDCA8, CDH23, CEP104, CEP290, CERKL, CERS3, CFP, CFTR, CHAT, CHD8, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLRN1, CNGA1, CNGB1, CNGB3, CNNM2, CNTNAP2, COASY, COL13A1, COL1A1, COL1A2, COL3A1, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, CORO1A, CP, CPLANE1, CPOX, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CSF3R, CTC1, CTLA4, CTNS, CTPS1, CTSA, CTSD, CTSF, CTSK, CUBN, CUL7, CWC27, CXCR2, CXCR4, CYB5A, CYB5R3, CYBA, CYBB, CYBC1, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP2R1, CYP4F22, CYP7B1, D2HGDH, DBT, DCAF17, DCLRE1C, DDB2, DDC, DES, DGAT1, DHCR7, DHDDS, DHFR, DLAT, DLD, DMD, DMP1, DNAJC12, DNAJC19, DNAJC21, DNMT3B, DOCK2, DOCK8, DOK7, DPAGT1, DPYD, DPYS, DSP, DTNBP1, DUOX2, DUOXA2, DYNC2H1, DYSF, ECHS1, EDA, EFEMP2, EFL1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF6, ELANE, ELP1, EMD, ENG, ENPP1, EPO, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC2, EXOSC3, EYS, F13A1, F13B, F2, F8, F9, FA2H, FAAP24, FAH, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FASLG, FBN1, FBP1, FBXL4, FECH, FERMT3, FGA, FGF23, FGFR3, FH, FHL1, FKBP10, FKRP, FKTN, FLAD1, FLNC, FMO3, FMR1, FOLR1, FOXA2, FOXE1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FUCA1, FXYD2, G6PC1, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALM, GALNS, GALT, GAMT, GATA1, GATA2, GATM, GBA1, GBE1, GCDH, GCH1, GCK, GCSH, GFI1, GFM1, GFPT1, GGCX, GH1, GHR, GHRHR, GJB2, GJB6, GLA, GLB1, GLDC, GLE1, GLI2, GLIS3, GLRA1, GLRB, GLUD1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOT2, GPHN, GPIHBP1, GRHPR, GRIP1, GSS, GUSB, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HAMP, HAVCR2, HAX1, HBA1, HBA2, HBB, HCFC1, HEATR3, HELLS, HEXA, HEXB, HFE, HGSNAT, HIBCH, HINT1, HJV, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF4A, HOGA1, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HYAL1, HYCC1, HYLS1, HYOU1, IDH2, IDS, IDUA, IFNG, IFNGR1, IFNGR2, IFT140, IGHM, IGLL1, IGSF1, IKBKB, IL12B, IL12RB1, IL12RB2, IL18BP, IL23R, IL2RA, IL2RB, IL2RG, IL7R, IMPDH2, INO80, INPP5E, INS, INSR, IRAK1, IRAK4, IRF4, IRF8, IRS4, ITGB2, ITK, ITPA, ITPKB, IVD, IYD, JAGN1, JAK1, JAK3, KCNH2, KCNJ1, KCNJ11, KCNQ1, KCNQ2, KCNT1, KCTD7, KIF14, L1CAM, L2HGDH, LAMA2, LAMA3, LAMA5, LAMB2, LAMB3, LAMC2, LAMP2, LARS1, LAT, LCA5, LCK, LCP2, LCT, LDHA, LDLR, LDLRAP1, LEP, LHX3, LHX4, LIAS, LIFR, LIG4, LIPA, LIPN, LMBRD1, LMF1, LMNA, LOXHD1, LPL, LRAT, LRP2, LRP4, LRPPRC, LTBP4, LYN, LYST, MAGED2, MAGT1, MAK, MALT1, MAML2, MAMLD1, MAN2B1, MANBA, MAP3K14, MAT1A, MAX, MC2R, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MEN1, MESP2, MFSD8, MID1, MKKS, MKS1, MLC1, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MPI, MPL, MPV17, MRAP, MSH2, MSH6, MTHFD1, MTHFR, MTM1, MTR, MTRR, MTTP, MUTYH, MVK, MYBPC3, MYD88, MYH11, MYH7, MYH9, MYL2, MYL3, MYO5B, MYO7A, MYO9A, MYSM1, NADK2, NAGA, NAGLU, NAGS, NBAS, NBN, NCF2, NCF4, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NEUROG3, NF2, NFKB1, NGLY1, NHEJ1, NIPAL4, NKX2-1, NKX2-5, NNT, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NR1H4, NR5A1, NTN1, NTRK1, OAT, OBSL1, OCA2, OCRL, OPA3, ORAI1, OSTM1, OTC, OTOF, OTX2, OXCT1, P3H1, PAH, PALB2, PANK2, PAX1, PAX8, PC, PCBD1, PCCA, PCCB, PCDH15, PCK1, PCSK1, PCSK9, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PDXK, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGM1, PGM3, PHEX, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIK3CD, PIK3R1, PKHD1, PKLR, PKP2, PLA2G6, PLAGL1, PLEC, PLEKHG5, PLN, PLOD2, PLP1, PLPBP, PMM2, PMS2, PNP, PNPLA1, PNPO, POLD1, POLD2, POLG, POLH, POMC, POMGNT1, POMT1, POMT2, POR, POU1F1, POU2AF1, POU3F4, PPIB, PPM1K, PPOX, PPT1, PRCD, PRDM5, PREPL, PRF1, PRKAG2, PRKCD, PRKDC, PRODH, PROP1, PSAP, PSAT1, PSPH, PTEN, PTF1A, PTPRC, PTS, PURA, PUS1, PYCR1, PYGL, PYGM, QDPR, RAB23, RAB27A, RAC2, RAG1, RAG2, RAPSN, RARS2, RASGRP1, RB1, RBCK1, RBM20, RC3H1, RD3, RDH12, RET, RFX5, RFXANK, RFXAP, RHOG, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, ROBO1, RORC, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPH3A, RPL10, RPL10A, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL3, RPL31, RPL34, RPL35, RPL35A, RPL5, RPL8, RPLP0, RPS10, RPS11, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RS1, RYR1, RYR2, SACS, SAMHD1, SASH3, SBDS, SCN4A, SCN5A, SCNN1A, SCNN1B, SCNN1G, SCO2, SDCCAG8, SDHAF2, SDHB, SDHC, SDHD, SDR9C7, SELENON, SEMA7A, SEPSECS, SERAC1, SERPINA7, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SH2D1A, SH3KBP1, SI, SKIC2, SKIC3, SLC12A1, SLC12A3, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC18A3, SLC19A1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A32, SLC25A36, SLC26A2, SLC26A3, SLC26A4, SLC26A7, SLC27A4, SLC2A1, SLC2A10, SLC2A2, SLC30A10, SLC31A1, SLC34A3, SLC35A2, SLC35A3, SLC37A4, SLC39A4, SLC39A7, SLC39A8, SLC3A1, SLC46A1, SLC4A11, SLC51A, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A5, SLC5A6, SLC5A7, SLC6A19, SLC6A5, SLC6A6, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SMAD3, SMAD4, SMARCAL1, SMN1, SMPD1, SNAP25, SORD, SOX3, SP110, SPATA7, SPG11, SPG21, SPI1, SPPL2A, SPR, SRP54, SRP72, STAR, STAT1, STK11, STK4, STX11, STXBP2, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, SYNE4, SYT2, TAFAZZIN, TANGO2, TAP1, TAP2, TAPBP, TAT, TBL1X, TBX19, TBX21, TCF3, TCIRG1, TCN2, TCTN1, TCTN2, TCTN3, TECPR2, TEFM, TF, TFRC, TG, TGFBR1, TGFBR2, TGM1, TH, THAP11, THRA, TIRAP, TJP2, TK2, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM43, TMEM67, TMEM70, TNFSF11, TNNC1, TNNI3, TNNT2, TNXB, TOP2B, TOR1AIP1, TP53, TPK1, TPM1, TPMT, TPO, TPP1, TRAPPC11, TRDN, TRH, TRHR, TRIM32, TRMU, TRPM6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSR2, TTC7A, TTC8, TTN, TTPA, TTR, TUBB1, TULP1, TYK2, TYMP, TYR, UCP2, UGT1A1, UMPS, UNC13A, UNC13D, UNG, UROD, UROS, USH1C, USH1G, USH2A, USP53, VAMP1, VDR, VHL, VKORC1, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, WAS, WHRN, WIPF1, WNT1, WRN, WT1, XIAP, XPA, XPC, ZAP70, ZBTB24, ZFP57, ZFYVE19, ZNF143, ZNF469, ZNF808, ZNRF3

NeoPainel

NeoPainel de Portador Plus Duo

Baseado em genoma completo (WGS)

Detalhes

Método-base

Dois protocolos Plus: genoma completo PCR-free, máscara de 1.059 genes, testes dedicados e análise conjunta do casal.

Genes

1059 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Resultados individuais, identificação de genes relevantes no casal e avaliação do risco combinado conforme padrão de herança.

Prévia: AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC6, ABCC8, ABCD1, ABCD3, ABCD4…

Ver conteúdo completo

AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC6, ABCC8, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACOX2, ACSF3, ACTA2, ACTC1, ACVRL1, ACY1, ADA, ADAMTS13, ADAMTS2, ADGRG1, ADGRV1, ADK, AGA, AGL, AGPAT2, AGPS, AGRN, AGXT, AHCY, AHI1, AICDA, AIPL1, AIRE, AK2, AKR1D1, AKT2, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG14, ALG2, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMACR, AMN, AMPD2, AMT, ANO10, ANTXR2, AP3B1, APC, APOA5, APOB, APOC2, APRT, AQP2, ARG1, ARL13B, ARL6, ARPC1B, ARSA, ARSB, ARX, ASCC3, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AUH, AVPR2, B2M, B9D1, B9D2, BAAT, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCKDK, BCL10, BCS1L, BLM, BLNK, BLOC1S3, BLOC1S6, BMP1, BMPR1A, BRCA1, BRCA2, BRIP1, BSND, BTD, BTK, C19ORF12, C3, CA5A, CACNA1S, CAD, CALM1, CALM2, CALM3, CAPN3, CARD11, CARMIL2, CASP8, CASQ2, CASR, CAV3, CAVIN1, CBLIF, CBS, CC2D2A, CCDC8, CCDC88C, CCN6, CD247, CD27, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD70, CD79A, CD79B, CD8A, CDCA7, CDCA8, CDH23, CEP104, CEP290, CERKL, CERS3, CFP, CFTR, CHAT, CHD8, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLRN1, CNGA1, CNGB1, CNGB3, CNNM2, CNTNAP2, COASY, COL13A1, COL1A1, COL1A2, COL3A1, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, CORO1A, CP, CPLANE1, CPOX, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CSF3R, CTC1, CTLA4, CTNS, CTPS1, CTSA, CTSD, CTSF, CTSK, CUBN, CUL7, CWC27, CXCR2, CXCR4, CYB5A, CYB5R3, CYBA, CYBB, CYBC1, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP2R1, CYP4F22, CYP7B1, D2HGDH, DBT, DCAF17, DCLRE1C, DDB2, DDC, DES, DGAT1, DHCR7, DHDDS, DHFR, DLAT, DLD, DMD, DMP1, DNAJC12, DNAJC19, DNAJC21, DNMT3B, DOCK2, DOCK8, DOK7, DPAGT1, DPYD, DPYS, DSP, DTNBP1, DUOX2, DUOXA2, DYNC2H1, DYSF, ECHS1, EDA, EFEMP2, EFL1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF6, ELANE, ELP1, EMD, ENG, ENPP1, EPO, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC2, EXOSC3, EYS, F13A1, F13B, F2, F8, F9, FA2H, FAAP24, FAH, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FASLG, FBN1, FBP1, FBXL4, FECH, FERMT3, FGA, FGF23, FGFR3, FH, FHL1, FKBP10, FKRP, FKTN, FLAD1, FLNC, FMO3, FMR1, FOLR1, FOXA2, FOXE1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FUCA1, FXYD2, G6PC1, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALM, GALNS, GALT, GAMT, GATA1, GATA2, GATM, GBA1, GBE1, GCDH, GCH1, GCK, GCSH, GFI1, GFM1, GFPT1, GGCX, GH1, GHR, GHRHR, GJB2, GJB6, GLA, GLB1, GLDC, GLE1, GLI2, GLIS3, GLRA1, GLRB, GLUD1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOT2, GPHN, GPIHBP1, GRHPR, GRIP1, GSS, GUSB, GYG1, GYS1, GYS2, HADH, HADHA, HADHB, HAMP, HAVCR2, HAX1, HBA1, HBA2, HBB, HCFC1, HEATR3, HELLS, HEXA, HEXB, HFE, HGSNAT, HIBCH, HINT1, HJV, HK1, HLCS, HMBS, HMGCL, HMGCS2, HNF1A, HNF4A, HOGA1, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HYAL1, HYCC1, HYLS1, HYOU1, IDH2, IDS, IDUA, IFNG, IFNGR1, IFNGR2, IFT140, IGHM, IGLL1, IGSF1, IKBKB, IL12B, IL12RB1, IL12RB2, IL18BP, IL23R, IL2RA, IL2RB, IL2RG, IL7R, IMPDH2, INO80, INPP5E, INS, INSR, IRAK1, IRAK4, IRF4, IRF8, IRS4, ITGB2, ITK, ITPA, ITPKB, IVD, IYD, JAGN1, JAK1, JAK3, KCNH2, KCNJ1, KCNJ11, KCNQ1, KCNQ2, KCNT1, KCTD7, KIF14, L1CAM, L2HGDH, LAMA2, LAMA3, LAMA5, LAMB2, LAMB3, LAMC2, LAMP2, LARS1, LAT, LCA5, LCK, LCP2, LCT, LDHA, LDLR, LDLRAP1, LEP, LHX3, LHX4, LIAS, LIFR, LIG4, LIPA, LIPN, LMBRD1, LMF1, LMNA, LOXHD1, LPL, LRAT, LRP2, LRP4, LRPPRC, LTBP4, LYN, LYST, MAGED2, MAGT1, MAK, MALT1, MAML2, MAMLD1, MAN2B1, MANBA, MAP3K14, MAT1A, MAX, MC2R, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MEN1, MESP2, MFSD8, MID1, MKKS, MKS1, MLC1, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MPI, MPL, MPV17, MRAP, MSH2, MSH6, MTHFD1, MTHFR, MTM1, MTR, MTRR, MTTP, MUTYH, MVK, MYBPC3, MYD88, MYH11, MYH7, MYH9, MYL2, MYL3, MYO5B, MYO7A, MYO9A, MYSM1, NADK2, NAGA, NAGLU, NAGS, NBAS, NBN, NCF2, NCF4, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NEUROG3, NF2, NFKB1, NGLY1, NHEJ1, NIPAL4, NKX2-1, NKX2-5, NNT, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NR1H4, NR5A1, NTN1, NTRK1, OAT, OBSL1, OCA2, OCRL, OPA3, ORAI1, OSTM1, OTC, OTOF, OTX2, OXCT1, P3H1, PAH, PALB2, PANK2, PAX1, PAX8, PC, PCBD1, PCCA, PCCB, PCDH15, PCK1, PCSK1, PCSK9, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PDXK, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGM1, PGM3, PHEX, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIK3CD, PIK3R1, PKHD1, PKLR, PKP2, PLA2G6, PLAGL1, PLEC, PLEKHG5, PLN, PLOD2, PLP1, PLPBP, PMM2, PMS2, PNP, PNPLA1, PNPO, POLD1, POLD2, POLG, POLH, POMC, POMGNT1, POMT1, POMT2, POR, POU1F1, POU2AF1, POU3F4, PPIB, PPM1K, PPOX, PPT1, PRCD, PRDM5, PREPL, PRF1, PRKAG2, PRKCD, PRKDC, PRODH, PROP1, PSAP, PSAT1, PSPH, PTEN, PTF1A, PTPRC, PTS, PURA, PUS1, PYCR1, PYGL, PYGM, QDPR, RAB23, RAB27A, RAC2, RAG1, RAG2, RAPSN, RARS2, RASGRP1, RB1, RBCK1, RBM20, RC3H1, RD3, RDH12, RET, RFX5, RFXANK, RFXAP, RHOG, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, ROBO1, RORC, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPH3A, RPL10, RPL10A, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL3, RPL31, RPL34, RPL35, RPL35A, RPL5, RPL8, RPLP0, RPS10, RPS11, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RS1, RYR1, RYR2, SACS, SAMHD1, SASH3, SBDS, SCN4A, SCN5A, SCNN1A, SCNN1B, SCNN1G, SCO2, SDCCAG8, SDHAF2, SDHB, SDHC, SDHD, SDR9C7, SELENON, SEMA7A, SEPSECS, SERAC1, SERPINA7, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SH2D1A, SH3KBP1, SI, SKIC2, SKIC3, SLC12A1, SLC12A3, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC18A3, SLC19A1, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A32, SLC25A36, SLC26A2, SLC26A3, SLC26A4, SLC26A7, SLC27A4, SLC2A1, SLC2A10, SLC2A2, SLC30A10, SLC31A1, SLC34A3, SLC35A2, SLC35A3, SLC37A4, SLC39A4, SLC39A7, SLC39A8, SLC3A1, SLC46A1, SLC4A11, SLC51A, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A5, SLC5A6, SLC5A7, SLC6A19, SLC6A5, SLC6A6, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SMAD3, SMAD4, SMARCAL1, SMN1, SMPD1, SNAP25, SORD, SOX3, SP110, SPATA7, SPG11, SPG21, SPI1, SPPL2A, SPR, SRP54, SRP72, STAR, STAT1, STK11, STK4, STX11, STXBP2, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, SYNE4, SYT2, TAFAZZIN, TANGO2, TAP1, TAP2, TAPBP, TAT, TBL1X, TBX19, TBX21, TCF3, TCIRG1, TCN2, TCTN1, TCTN2, TCTN3, TECPR2, TEFM, TF, TFRC, TG, TGFBR1, TGFBR2, TGM1, TH, THAP11, THRA, TIRAP, TJP2, TK2, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM43, TMEM67, TMEM70, TNFSF11, TNNC1, TNNI3, TNNT2, TNXB, TOP2B, TOR1AIP1, TP53, TPK1, TPM1, TPMT, TPO, TPP1, TRAPPC11, TRDN, TRH, TRHR, TRIM32, TRMU, TRPM6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSR2, TTC7A, TTC8, TTN, TTPA, TTR, TUBB1, TULP1, TYK2, TYMP, TYR, UCP2, UGT1A1, UMPS, UNC13A, UNC13D, UNG, UROD, UROS, USH1C, USH1G, USH2A, USP53, VAMP1, VDR, VHL, VKORC1, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, WAS, WHRN, WIPF1, WNT1, WRN, WT1, XIAP, XPA, XPC, ZAP70, ZBTB24, ZFP57, ZFYVE19, ZNF143, ZNF469, ZNF808, ZNRF3

Especialidade

Nefrologia

2 opções disponíveis

NeoPainel

NeoPainel para Síndrome Nefrótica

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

68 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ACTN4, ADGRE1, APOL1, ARHGAP24, ARHGDIA, AVIL, CD2AP, CFH, CLCN5, COL4A3…

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ACTN4, ADGRE1, APOL1, ARHGAP24, ARHGDIA, AVIL, CD2AP, CFH, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, DAAM2, DGKE, EMP2, FAT1, FN1, GON7, IFIH1, IL36G, INF2, ITGA3, KANK1, KANK2, KIRREL1, LAGE3, LAMA5, LAMB2, LMX1B, MAFB, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OCRL, OSGEP, PAX2, PDSS2, PLCE1, PMM2, PTPRO, SCARB2, SGPL1, SLC17A5, SMARCAL1, TBC1D8B, TP53RK, TPRKB, TRIM8, TRPC6, TTC21B, WDR4, WDR73, WNK4, WT1, XPO5, YRDC

Super Painel

Super Painel para Síndrome Nefrótica

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

68 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ACTN4, ADGRE1, APOL1, ARHGAP24, ARHGDIA, AVIL, CD2AP, CFH, CLCN5, COL4A3…

Ver conteúdo completo

ACTN4, ADGRE1, APOL1, ARHGAP24, ARHGDIA, AVIL, CD2AP, CFH, CLCN5, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, DAAM2, DGKE, EMP2, FAT1, FN1, GON7, IFIH1, IL36G, INF2, ITGA3, KANK1, KANK2, KIRREL1, LAGE3, LAMA5, LAMB2, LMX1B, MAFB, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OCRL, OSGEP, PAX2, PDSS2, PLCE1, PMM2, PTPRO, SCARB2, SGPL1, SLC17A5, SMARCAL1, TBC1D8B, TP53RK, TPRKB, TRIM8, TRPC6, TTC21B, WDR4, WDR73, WNK4, WT1, XPO5, YRDC

Especialidade

Neurologia

20 opções disponíveis

NeoPainel

NeoPainel para Demências e Parkinson

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

106 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: A2M, AAAS, ABCD1, ACE, ADH1C, APOE, APP, ARSA, ATN1, ATP13A2…

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A2M, AAAS, ABCD1, ACE, ADH1C, APOE, APP, ARSA, ATN1, ATP13A2, ATP1A3, ATP6AP2, ATP7B, ATXN2, ATXN3, C19ORF12, CHCHD10, CHCHD2, CHMP2B, CSF1R, CYP27A1, DCTN1, DNAJC5, DNAJC6, DNMT1, EIF4G1, EPM2A, FBXO7, FTL, FUS, GALC, GBA1, GCH1, GFAP, GIGYF2, GLA, GLUD2, GRN, HEXA, HNRNPA2B1, HTRA1, HTRA2, HTT, ITM2B, JPH3, LMNB1, LRRK2, LYST, MAPT, MPO, NHLRC1, NOTCH3, NPC1, NPC2, NR4A2, OPA3, OPTN, PANK2, PARK7, PINK1, PLA2G6, PNKD, POLG, PPT1, PRKN, PRKRA, PRNP, PRRT2, PSAP, PSEN1, PSEN2, PTRHD1, RAB39B, SERPINI1, SGCE, SLC2A1, SLC30A10, SLC39A14, SLC41A1, SLC6A3, SNCA, SNCAIP, SNCB, SOD1, SORL1, SPG11, SPR, SQSTM1, SYNJ1, TAF1, TARDBP, TBK1, TBP, THAP1, TOR1A, TREM2, TUBB4A, TYROBP, UBQLN2, UCHL1, VAPB, VCP, VPS13A, VPS13C, VPS35, WDR45

Super Painel

Super Painel para Demências e Parkinson

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

106 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: A2M, AAAS, ABCD1, ACE, ADH1C, APOE, APP, ARSA, ATN1, ATP13A2…

Ver conteúdo completo

A2M, AAAS, ABCD1, ACE, ADH1C, APOE, APP, ARSA, ATN1, ATP13A2, ATP1A3, ATP6AP2, ATP7B, ATXN2, ATXN3, C19ORF12, CHCHD10, CHCHD2, CHMP2B, CSF1R, CYP27A1, DCTN1, DNAJC5, DNAJC6, DNMT1, EIF4G1, EPM2A, FBXO7, FTL, FUS, GALC, GBA1, GCH1, GFAP, GIGYF2, GLA, GLUD2, GRN, HEXA, HNRNPA2B1, HTRA1, HTRA2, HTT, ITM2B, JPH3, LMNB1, LRRK2, LYST, MAPT, MPO, NHLRC1, NOTCH3, NPC1, NPC2, NR4A2, OPA3, OPTN, PANK2, PARK7, PINK1, PLA2G6, PNKD, POLG, PPT1, PRKN, PRKRA, PRNP, PRRT2, PSAP, PSEN1, PSEN2, PTRHD1, RAB39B, SERPINI1, SGCE, SLC2A1, SLC30A10, SLC39A14, SLC41A1, SLC6A3, SNCA, SNCAIP, SNCB, SOD1, SORL1, SPG11, SPR, SQSTM1, SYNJ1, TAF1, TARDBP, TBK1, TBP, THAP1, TOR1A, TREM2, TUBB4A, TYROBP, UBQLN2, UCHL1, VAPB, VCP, VPS13A, VPS13C, VPS35, WDR45

NeoPainel

NeoPainel para Distonias

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

180 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ACTB, ADAR, ADCY5, AFG3L2, AIFM1, ALDH5A1, ANO3, AP1S2, APTX, ARG1…

Ver conteúdo completo

ACTB, ADAR, ADCY5, AFG3L2, AIFM1, ALDH5A1, ANO3, AP1S2, APTX, ARG1, ARSA, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP7B, AUH, BCAP31, BCS1L, C19ORF12, CACNA1A, CACNA1B, CACNA1G, CACNB4, CHMP2B, CIZ1, COL6A3, COX10, COX15, CSTB, CYP27A1, DBH, DCAF17, DCTN1, DDC, DHFR, DLAT, DLD, DNAJC12, DRD2, DRD5, EARS2, ERCC6, ETHE1, FA2H, FASTKD2, FBXO7, FITM2, FOLR1, FOXP2, FOXRED1, FTL, GAMT, GCDH, GCH1, GFAP, GLRA1, GLRB, GNAL, GNAO1, HEXA, HIBCH, HPCA, HPRT1, HTRA2, HTT, IFIH1, IVD, KCNA1, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCTD17, KMT2B, L2HGDH, LRPPRC, MAOA, MAT1A, MCOLN1, MECR, MMADHC, MMUT, MPV17, MR1, MRE11, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX2-1, NPC2, PAH, PANK2, PARK7, PCBD1, PCCA, PCCB, PCNA, PDE10A, PDGFB, PDHA1, PDHB, PDHX, PDP1, PDX1, PINK1, PITX3, PLA2G6, PLP1, PNKD, POLG, PRKN, PRKRA, PRRT2, PSEN1, PTEN, PTS, QDPR, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN8A, SCN9A, SCP2, SDHA, SDHAF1, SGCE, SLC16A2, SLC19A3, SLC1A3, SLC20A2, SLC25A1, SLC25A19, SLC2A1, SLC30A10, SLC39A14, SLC46A1, SLC6A3, SLC6A5, SPG11, SPG7, SPR, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TAF1, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPK1, TREM2, TREX1, TUBA1A, TUBB4A, TWNK, UBTF, VAC14, VPS13A, VPS13D, WDR45, XPR1, YY1

Super Painel

Super Painel para Distonias

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

180 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ACTB, ADAR, ADCY5, AFG3L2, AIFM1, ALDH5A1, ANO3, AP1S2, APTX, ARG1…

Ver conteúdo completo

ACTB, ADAR, ADCY5, AFG3L2, AIFM1, ALDH5A1, ANO3, AP1S2, APTX, ARG1, ARSA, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP7B, AUH, BCAP31, BCS1L, C19ORF12, CACNA1A, CACNA1B, CACNA1G, CACNB4, CHMP2B, CIZ1, COL6A3, COX10, COX15, CSTB, CYP27A1, DBH, DCAF17, DCTN1, DDC, DHFR, DLAT, DLD, DNAJC12, DRD2, DRD5, EARS2, ERCC6, ETHE1, FA2H, FASTKD2, FBXO7, FITM2, FOLR1, FOXP2, FOXRED1, FTL, GAMT, GCDH, GCH1, GFAP, GLRA1, GLRB, GNAL, GNAO1, HEXA, HIBCH, HPCA, HPRT1, HTRA2, HTT, IFIH1, IVD, KCNA1, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCTD17, KMT2B, L2HGDH, LRPPRC, MAOA, MAT1A, MCOLN1, MECR, MMADHC, MMUT, MPV17, MR1, MRE11, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX2-1, NPC2, PAH, PANK2, PARK7, PCBD1, PCCA, PCCB, PCNA, PDE10A, PDGFB, PDHA1, PDHB, PDHX, PDP1, PDX1, PINK1, PITX3, PLA2G6, PLP1, PNKD, POLG, PRKN, PRKRA, PRRT2, PSEN1, PTEN, PTS, QDPR, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN8A, SCN9A, SCP2, SDHA, SDHAF1, SGCE, SLC16A2, SLC19A3, SLC1A3, SLC20A2, SLC25A1, SLC25A19, SLC2A1, SLC30A10, SLC39A14, SLC46A1, SLC6A3, SLC6A5, SPG11, SPG7, SPR, SUCLA2, SUCLG1, SUOX, SURF1, TACO1, TAF1, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPK1, TREM2, TREX1, TUBA1A, TUBB4A, TWNK, UBTF, VAC14, VPS13A, VPS13D, WDR45, XPR1, YY1

NeoPainel

NeoPainel para Distrofias Musculares, Miopatias e Miastenia

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

182 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCC9, ACHE, ACTA1, ACTG2, ACTN2, ADSS1, AGRN, ALG14, ALG2, ALPK3…

Ver conteúdo completo

ABCC9, ACHE, ACTA1, ACTG2, ACTN2, ADSS1, AGRN, ALG14, ALG2, ALPK3, ANO5, ANXA11, AP2A2, APOO, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1S, CAP2, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CLCN1, CLHC1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRPPA, CRYAB, DAG1, DES, DLGAP2, DMD, DNAJB4, DNAJB6, DNAJB7, DNM2, DNMT3A, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, FAM111B, FDX2, FHL1, FILIP1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GFER, GFPT1, GMPPB, GNE, GYG1, GYS1, HACD1, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB6, HSPB8, IGHMBP2, ISCU, ITGA7, KBTBD13, KCNJ2, KIF5B, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4, MAGEL2, MAP3K20, MATR3, MCM3AP, MCOLN1, MEGF10, MFF, MICU1, MLIP, MSTO1, MTM1, MUSK, MYBPC1, MYF6, MYH2, MYH7, MYL1, MYL2, MYO15B, MYO18B, MYOD1, MYOT, MYPN, NEB, NRXN1, OPA1, ORAI1, PABPN1, PAX7, PHKA1, PLEC, PNPLA2, PNPLA8, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP2R3C, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RDH11, RFC4, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SMPX, SOX8, SPEG, SPTAN1, SPTBN4, SQSTM1, STAC3, STIM1, SVIL, TARDBP, TCAP, TGFB1, TIA1, TK2, TNNC2, TNNI1, TNNT1, TNNT3, TPM2, TPM3, TRAPPC2L, TRIM32, TRIP4, TTN, TUBA4A, UNC45B, VCP, VMA21, YARS2

Super Painel

Super Painel para Distrofias Musculares, Miopatias e Miastenia

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

182 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCC9, ACHE, ACTA1, ACTG2, ACTN2, ADSS1, AGRN, ALG14, ALG2, ALPK3…

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ABCC9, ACHE, ACTA1, ACTG2, ACTN2, ADSS1, AGRN, ALG14, ALG2, ALPK3, ANO5, ANXA11, AP2A2, APOO, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1S, CAP2, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CLCN1, CLHC1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRPPA, CRYAB, DAG1, DES, DLGAP2, DMD, DNAJB4, DNAJB6, DNAJB7, DNM2, DNMT3A, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, FAM111B, FDX2, FHL1, FILIP1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GFER, GFPT1, GMPPB, GNE, GYG1, GYS1, HACD1, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB6, HSPB8, IGHMBP2, ISCU, ITGA7, KBTBD13, KCNJ2, KIF5B, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4, MAGEL2, MAP3K20, MATR3, MCM3AP, MCOLN1, MEGF10, MFF, MICU1, MLIP, MSTO1, MTM1, MUSK, MYBPC1, MYF6, MYH2, MYH7, MYL1, MYL2, MYO15B, MYO18B, MYOD1, MYOT, MYPN, NEB, NRXN1, OPA1, ORAI1, PABPN1, PAX7, PHKA1, PLEC, PNPLA2, PNPLA8, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP2R3C, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RDH11, RFC4, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SMPX, SOX8, SPEG, SPTAN1, SPTBN4, SQSTM1, STAC3, STIM1, SVIL, TARDBP, TCAP, TGFB1, TIA1, TK2, TNNC2, TNNI1, TNNT1, TNNT3, TPM2, TPM3, TRAPPC2L, TRIM32, TRIP4, TTN, TUBA4A, UNC45B, VCP, VMA21, YARS2

NeoPainel

NeoPainel para Doença de Alzheimer

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

4 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: APOE, APP, PSEN1, PSEN2

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APOE, APP, PSEN1, PSEN2

Super Painel

Super Painel para Doença de Alzheimer

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

4 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: APOE, APP, PSEN1, PSEN2

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APOE, APP, PSEN1, PSEN2

NeoPainel

NeoPainel para Doenças Mitocondriais (DNA Nuclear e Mitocondrial)

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

371 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: AARS2, ABAT, ABCB7, ACACA, ACAD9, ACADM, ACADVL, ACAT1, ACO2, ADAR…

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AARS2, ABAT, ABCB7, ACACA, ACAD9, ACADM, ACADVL, ACAT1, ACO2, ADAR, AFG3L2, AGK, AIFM1, AK2, ALDH3A2, AMT, APTX, ATP5F1A, ATP5F1D, ATP5F1E, ATP7A, ATP7B, ATPAF2, AUH, BAG3, BCS1L, BOLA3, BTD, C19ORF12, C1QBP, CA5A, CARS2, CEP89, CHAT, CHCHD10, CHKB, CLPB, CLPP, COA3, COA5, COA6, COA7, COA8, COASY, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX5A, COX6B1, COX7B, COX8A, COXFA4, CPS1, CPT1A, CYC1, CYCS, D2HGDH, DARS2, DDC, DES, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GAMT, GARS1, GATB, GATC, GATM, GCDH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, HTRA2, IARS1, IARS2, IBA57, IDH2, IDH3B, IFIH1, ISCA1, ISCA2, ISCU, KARS1, L2HGDH, LAMP2, LARS2, LIAS, LIPT1, LIPT2, LMBRD1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MOCS1, MPC1, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS34, MRPS7, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MTHFD1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MTRFR, MT-RNR1, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TV, MT-TW, MT-TY, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NNT, NR2F1, NSUN3, NUBPL, NUP62, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARS2, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PET117, PINK1, PITRM1, PMPCA, PMPCB, PNKD, PNPLA8, PNPT1, POLG, POLG2, POP1, PPA2, PPOX, PSAP, PTCD3, PUS1, QRSL1, RANBP2, RARS1, RARS2, REEP1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RRM2B, RTN4IP1, SACS, SAMHD1, SARS2, SCN1A, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC39A8, SLC52A2, SLC52A3, SLC6A8, SPAST, SPG7, STAT2, STXBP1, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TAFAZZIN, TANGO2, TARS2, TFAM, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM70, TOP3A, TPK1, TREX1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, WDR45, WFS1, XPNPEP3, YARS2, YME1L1

Super Painel

Super Painel para Doenças Mitocondriais (DNA Nuclear e Mitocondrial)

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

371 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: AARS2, ABAT, ABCB7, ACACA, ACAD9, ACADM, ACADVL, ACAT1, ACO2, ADAR…

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AARS2, ABAT, ABCB7, ACACA, ACAD9, ACADM, ACADVL, ACAT1, ACO2, ADAR, AFG3L2, AGK, AIFM1, AK2, ALDH3A2, AMT, APTX, ATP5F1A, ATP5F1D, ATP5F1E, ATP7A, ATP7B, ATPAF2, AUH, BAG3, BCS1L, BOLA3, BTD, C19ORF12, C1QBP, CA5A, CARS2, CEP89, CHAT, CHCHD10, CHKB, CLPB, CLPP, COA3, COA5, COA6, COA7, COA8, COASY, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX5A, COX6B1, COX7B, COX8A, COXFA4, CPS1, CPT1A, CYC1, CYCS, D2HGDH, DARS2, DDC, DES, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GAMT, GARS1, GATB, GATC, GATM, GCDH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, HTRA2, IARS1, IARS2, IBA57, IDH2, IDH3B, IFIH1, ISCA1, ISCA2, ISCU, KARS1, L2HGDH, LAMP2, LARS2, LIAS, LIPT1, LIPT2, LMBRD1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MOCS1, MPC1, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS34, MRPS7, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MTHFD1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MTRFR, MT-RNR1, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TV, MT-TW, MT-TY, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NNT, NR2F1, NSUN3, NUBPL, NUP62, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARS2, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PET117, PINK1, PITRM1, PMPCA, PMPCB, PNKD, PNPLA8, PNPT1, POLG, POLG2, POP1, PPA2, PPOX, PSAP, PTCD3, PUS1, QRSL1, RANBP2, RARS1, RARS2, REEP1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RRM2B, RTN4IP1, SACS, SAMHD1, SARS2, SCN1A, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC39A8, SLC52A2, SLC52A3, SLC6A8, SPAST, SPG7, STAT2, STXBP1, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TAFAZZIN, TANGO2, TARS2, TFAM, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM70, TOP3A, TPK1, TREX1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, WDR45, WFS1, XPNPEP3, YARS2, YME1L1

NeoPainel

NeoPainel para Epilepsia

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

740 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: AARS1, AARS2, ABAT, ACER3, ACOX1, ACTL6B, ACY1, ADAM22, ADAR, ADAT3…

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AARS1, AARS2, ABAT, ACER3, ACOX1, ACTL6B, ACY1, ADAM22, ADAR, ADAT3, ADGRG1, ADGRV1, ADNP, ADPRS, ADRA2B, ADSL, AFF3, AFG2A, AGO1, AIMP1, AIMP2, AKT1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMACR, AMPD2, AMT, ANKRD11, AP1G1, AP2M1, AP3B2, ARF1, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARID1B, ARSA, ARV1, ARX, ASAH1, ASH1L, ASNS, ASPA, ATAD1, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1A, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATP8A2, ATRX, BCKDHA, BCKDHB, BCKDK, BCORL1, BCS1L, BLTP1, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12ORF57, C2ORF69, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CAMK2G, CARS2, CASK, CASR, CBL, CC2D2A, CCDC88A, CCDC88C, CCND2, CDK19, CDK5, CDK8, CDKL5, CERS1, CHD2, CHD5, CIC, CILK1, CLCN2, CLCN3, CLCN4, CLCN6, CLDN5, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTNAP2, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ6, COQ9, COX10, COX15, CPA6, CPLX1, CREBBP, CRELD1, CRH, CRPPA, CSNK1G1, CSNK2A1, CSNK2B, CSTB, CTNNA2, CTNNB1, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27A1, D2HGDH, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHX30, DIAPH1, DLAT, DMBX1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DYNC1H1, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EMC1, EML1, EMX2, EPG5, EPM2A, ETHE1, EXOSC3, EXT2, FAR1, FARS2, FASN, FASTKD2, FBXL4, FBXO11, FCSK, FDFT1, FGF12, FGF13, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXP1, FOXRED1, FRRS1L, FTL, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GALC, GAMT, GATAD2B, GATM, GBA1, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI3, GLRA1, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB1, GNB5, GOSR2, GOT2, GPAA1, GPHN, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GSS, GTPBP2, GTPBP3, GUF1, H3-3A, H3-3B, HACE1, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HEXA, HEXB, HLCS, HMGCL, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPRT1, HRAS, HSD17B4, HSPD1, HTRA2, IDH2, IDH3A, IER3IP1, IFIH1, IKBKG, INO80, IQSEC2, IRF2BPL, ITPA, JMJD1C, KANSL1, KARS1, KAT5, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD17, KCTD3, KCTD7, KDM5C, KIF1A, KIF2A, KIF5A, KIF5C, KIFBP, KMT2E, KMT5B, KPNA7, KPTN, KRAS, LAMB1, LAMC3, LARGE1, LGI1, LIAS, LIPT2, LMBRD2, LMNB2, LNPK, LSS, LYST, MACF1, MAF, MAGI2, MANBA, MAP2K1, MAP2K2, MAPK10, MAST1, MAST3, MATN4, MBD5, MBOAT7, MDH2, MECP2, MED12, MED17, MEF2C, MFF, MFSD8, MICAL1, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOCS3, MOGS, MPDU1, MTHFR, MTOR, MTR, NACC1, NAGA, NAGLU, NALCN, NARS1, NARS2, NBEA, NCDN, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEUROD2, NEXMIF, NF1, NGLY1, NHLRC1, NHLRC2, NID1, NPC1, NPC2, NPRL2, NPRL3, NR4A2, NRAS, NRXN1, NSD1, NSDHL, NTRK2, NUBPL, NUS1, OCLN, OPHN1, OSGEP, OTUD6B, OTX2, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PARS2, PCCA, PCCB, PCDH12, PCDH19, PCDHB4, PCDHGC4, PCLO, PDE2A, PDHA1, PDHX, PDP1, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHACTR1, PHGDH, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIK3AP1, PIK3C2B, PIK3CA, PIK3R2, PLAA, PLCB1, PLPBP, PMM2, PNKD, PNKP, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMT1, POMT2, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRMT7, PRODH, PRRT2, PSAP, PSAT1, PSMB8, PSPH, PTCH1, PTEN, PTF1A, PTPN23, PTS, PURA, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAC3, RAI1, RALA, RANBP2, RARS2, RBFOX1, RBFOX3, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF13, ROGDI, RORA, RORB, RPH3A, RPIA, RRM2B, RTN4IP1, RTTN, RUBCN, RUSC2, RYR2, RYR3, SAMHD1, SARS1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDHA, SEC24D, SEPSECS, SERPINI1, SETBP1, SETD1B, SETD2, SETD5, SGCE, SGSH, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A19, SLC25A22, SLC2A1, SLC32A1, SLC35A1, SLC35A2, SLC35A3, SLC45A1, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNAP25, SNIP1, SNX27, SPR, SPTAN1, SPTBN1, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STRADA, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TANGO2, TBC1D20, TBC1D24, TBCD, TBCK, TBL1XR1, TCEAL1, TCF4, TELO2, TFE3, TGIF1, TIAM1, TIMM50, TK2, TMEM70, TMTC3, TNK2, TNPO2, TPK1, TPP1, TRAF7, TRAK1, TRAPPC12, TRAPPC6B, TREX1, TRIM8, TRIO, TRIP13, TRPM3, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TXNRD1, UBA5, UBE2A, UBE3A, UBR7, UBTF, UFC1, UFM1, UNC79, UNC80, USP7, VAMP2, VARS1, VLDLR, VPS11, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR62, WDR73, WWOX, YWHAG, ZBTB18, ZDHHC9, ZEB2, ZIC2, ZMIZ1, ZNF142, ZSWIM6

Super Painel

Super Painel para Epilepsia

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

740 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: AARS1, AARS2, ABAT, ACER3, ACOX1, ACTL6B, ACY1, ADAM22, ADAR, ADAT3…

Ver conteúdo completo

AARS1, AARS2, ABAT, ACER3, ACOX1, ACTL6B, ACY1, ADAM22, ADAR, ADAT3, ADGRG1, ADGRV1, ADNP, ADPRS, ADRA2B, ADSL, AFF3, AFG2A, AGO1, AIMP1, AIMP2, AKT1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMACR, AMPD2, AMT, ANKRD11, AP1G1, AP2M1, AP3B2, ARF1, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARID1B, ARSA, ARV1, ARX, ASAH1, ASH1L, ASNS, ASPA, ATAD1, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1A, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATP8A2, ATRX, BCKDHA, BCKDHB, BCKDK, BCORL1, BCS1L, BLTP1, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12ORF57, C2ORF69, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D2, CACNB4, CAD, CAMK2A, CAMK2B, CAMK2G, CARS2, CASK, CASR, CBL, CC2D2A, CCDC88A, CCDC88C, CCND2, CDK19, CDK5, CDK8, CDKL5, CERS1, CHD2, CHD5, CIC, CILK1, CLCN2, CLCN3, CLCN4, CLCN6, CLDN5, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTNAP2, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ6, COQ9, COX10, COX15, CPA6, CPLX1, CREBBP, CRELD1, CRH, CRPPA, CSNK1G1, CSNK2A1, CSNK2B, CSTB, CTNNA2, CTNNB1, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27A1, D2HGDH, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHX30, DIAPH1, DLAT, DMBX1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DYNC1H1, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EMC1, EML1, EMX2, EPG5, EPM2A, ETHE1, EXOSC3, EXT2, FAR1, FARS2, FASN, FASTKD2, FBXL4, FBXO11, FCSK, FDFT1, FGF12, FGF13, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXP1, FOXRED1, FRRS1L, FTL, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GALC, GAMT, GATAD2B, GATM, GBA1, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI3, GLRA1, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB1, GNB5, GOSR2, GOT2, GPAA1, GPHN, GRIA2, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GSS, GTPBP2, GTPBP3, GUF1, H3-3A, H3-3B, HACE1, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HEXA, HEXB, HLCS, HMGCL, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPRT1, HRAS, HSD17B4, HSPD1, HTRA2, IDH2, IDH3A, IER3IP1, IFIH1, IKBKG, INO80, IQSEC2, IRF2BPL, ITPA, JMJD1C, KANSL1, KARS1, KAT5, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD17, KCTD3, KCTD7, KDM5C, KIF1A, KIF2A, KIF5A, KIF5C, KIFBP, KMT2E, KMT5B, KPNA7, KPTN, KRAS, LAMB1, LAMC3, LARGE1, LGI1, LIAS, LIPT2, LMBRD2, LMNB2, LNPK, LSS, LYST, MACF1, MAF, MAGI2, MANBA, MAP2K1, MAP2K2, MAPK10, MAST1, MAST3, MATN4, MBD5, MBOAT7, MDH2, MECP2, MED12, MED17, MEF2C, MFF, MFSD8, MICAL1, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOCS3, MOGS, MPDU1, MTHFR, MTOR, MTR, NACC1, NAGA, NAGLU, NALCN, NARS1, NARS2, NBEA, NCDN, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEUROD2, NEXMIF, NF1, NGLY1, NHLRC1, NHLRC2, NID1, NPC1, NPC2, NPRL2, NPRL3, NR4A2, NRAS, NRXN1, NSD1, NSDHL, NTRK2, NUBPL, NUS1, OCLN, OPHN1, OSGEP, OTUD6B, OTX2, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PARS2, PCCA, PCCB, PCDH12, PCDH19, PCDHB4, PCDHGC4, PCLO, PDE2A, PDHA1, PDHX, PDP1, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHACTR1, PHGDH, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIK3AP1, PIK3C2B, PIK3CA, PIK3R2, PLAA, PLCB1, PLPBP, PMM2, PNKD, PNKP, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMT1, POMT2, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRICKLE1, PRICKLE2, PRIMA1, PRMT7, PRODH, PRRT2, PSAP, PSAT1, PSMB8, PSPH, PTCH1, PTEN, PTF1A, PTPN23, PTS, PURA, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAC3, RAI1, RALA, RANBP2, RARS2, RBFOX1, RBFOX3, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF13, ROGDI, RORA, RORB, RPH3A, RPIA, RRM2B, RTN4IP1, RTTN, RUBCN, RUSC2, RYR2, RYR3, SAMHD1, SARS1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDHA, SEC24D, SEPSECS, SERPINI1, SETBP1, SETD1B, SETD2, SETD5, SGCE, SGSH, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A19, SLC25A22, SLC2A1, SLC32A1, SLC35A1, SLC35A2, SLC35A3, SLC45A1, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNAP25, SNIP1, SNX27, SPR, SPTAN1, SPTBN1, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STRADA, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SZT2, TANGO2, TBC1D20, TBC1D24, TBCD, TBCK, TBL1XR1, TCEAL1, TCF4, TELO2, TFE3, TGIF1, TIAM1, TIMM50, TK2, TMEM70, TMTC3, TNK2, TNPO2, TPK1, TPP1, TRAF7, TRAK1, TRAPPC12, TRAPPC6B, TREX1, TRIM8, TRIO, TRIP13, TRPM3, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TXNRD1, UBA5, UBE2A, UBE3A, UBR7, UBTF, UFC1, UFM1, UNC79, UNC80, USP7, VAMP2, VARS1, VLDLR, VPS11, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR62, WDR73, WWOX, YWHAG, ZBTB18, ZDHHC9, ZEB2, ZIC2, ZMIZ1, ZNF142, ZSWIM6

NeoPainel

NeoPainel para Leucodistrofias

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

171 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: AARS2, ABCD1, ACBD5, ACOX1, ADAR, ADGRG1, AIMP1, ALDH3A2, ARSA, ARX…

Ver conteúdo completo

AARS2, ABCD1, ACBD5, ACOX1, ADAR, ADGRG1, AIMP1, ALDH3A2, ARSA, ARX, ASPA, ATP7A, ATP7B, ATPAF2, BCAP31, BCS1L, BOLA3, CIC, CLCN2, COL4A1, COQ2, COQ8A, COQ9, COX10, COX15, CSF1R, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS1, DARS2, DCX, DGUOK, DPYD, EARS2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC2, ERCC3, ERCC6, ERCC8, ETFDH, FA2H, FLVCR2, FOLR1, FUCA1, GALC, GBE1, GFAP, GFM1, GJA1, GJB1, GJC2, GLA, GLB1, GM2A, GTF2H5, HEPACAM, HEXA, HEXB, HMBS, HSD17B4, HSPD1, HTRA1, HYCC1, IFIH1, JAM3, L2HGDH, LAMA2, LAMB1, LMNB1, MCOLN1, MEF2C, MFF, MLC1, MPLKIP, MPZ, MRPS16, MTFMT, NDE1, NDUFA2, NDUFAF1, NDUFAF3, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NOTCH3, NPC1, NPC2, NUBPL, OCLN, OCRL, PAFAH1B1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PHYH, PLP1, PMP22, POLG, POLG2, POLR1C, POLR3A, POLR3B, PPT1, PRF1, PSAP, PSAT1, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, STX11, STXBP2, SUCLA2, SUMF1, SURF1, TACO1, TREM2, TREX1, TUBA1A, TUBA8, TUBB2B, TUBB4A, TUFM, TWNK, TYMP, TYROBP, UNC13D, ZFYVE26

Super Painel

Super Painel para Leucodistrofias

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

171 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: AARS2, ABCD1, ACBD5, ACOX1, ADAR, ADGRG1, AIMP1, ALDH3A2, ARSA, ARX…

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AARS2, ABCD1, ACBD5, ACOX1, ADAR, ADGRG1, AIMP1, ALDH3A2, ARSA, ARX, ASPA, ATP7A, ATP7B, ATPAF2, BCAP31, BCS1L, BOLA3, CIC, CLCN2, COL4A1, COQ2, COQ8A, COQ9, COX10, COX15, CSF1R, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS1, DARS2, DCX, DGUOK, DPYD, EARS2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC2, ERCC3, ERCC6, ERCC8, ETFDH, FA2H, FLVCR2, FOLR1, FUCA1, GALC, GBE1, GFAP, GFM1, GJA1, GJB1, GJC2, GLA, GLB1, GM2A, GTF2H5, HEPACAM, HEXA, HEXB, HMBS, HSD17B4, HSPD1, HTRA1, HYCC1, IFIH1, JAM3, L2HGDH, LAMA2, LAMB1, LMNB1, MCOLN1, MEF2C, MFF, MLC1, MPLKIP, MPZ, MRPS16, MTFMT, NDE1, NDUFA2, NDUFAF1, NDUFAF3, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NOTCH3, NPC1, NPC2, NUBPL, OCLN, OCRL, PAFAH1B1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PHYH, PLP1, PMP22, POLG, POLG2, POLR1C, POLR3A, POLR3B, PPT1, PRF1, PSAP, PSAT1, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, STX11, STXBP2, SUCLA2, SUMF1, SURF1, TACO1, TREM2, TREX1, TUBA1A, TUBA8, TUBB2B, TUBB4A, TUFM, TWNK, TYMP, TYROBP, UNC13D, ZFYVE26

NeoPainel

NeoPainel para Neurofibromatose

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

5 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: LZTR1, NF1, NF2, SMARCB1, SPRED1

Ver conteúdo completo

LZTR1, NF1, NF2, SMARCB1, SPRED1

Super Painel

Super Painel para Neurofibromatose

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

5 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: LZTR1, NF1, NF2, SMARCB1, SPRED1

Ver conteúdo completo

LZTR1, NF1, NF2, SMARCB1, SPRED1

NeoPainel

NeoPainel para Neuropatias

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

229 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: AAAS, AARS1, ABCC9, ABHD12, ACTC1, ACTN2, AIFM1, ALDH3A2, ANKRD1, AP1S1…

Ver conteúdo completo

AAAS, AARS1, ABCC9, ABHD12, ACTC1, ACTN2, AIFM1, ALDH3A2, ANKRD1, AP1S1, APTX, ARHGEF10, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, BAG3, BRAF, BSCL2, CACNB4, CASQ2, CCT5, CHCHD10, CLTCL1, COA7, COQ7, COQ8A, COX6A1, CRYAB, CSRP3, CTDP1, CYP7B1, DCAF8, DCTN1, DES, DHH, DHTKD1, DMD, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DSC2, DSG2, DSP, DST, DTNA, DYNC1H1, EGR2, ELP1, EMD, EXOC4, FBLN5, FBXO38, FGD4, FGF14, FIG4, FKTN, FXN, GAA, GAN, GARS1, GATAD1, GBE1, GDAP1, GJB1, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXA, HINT1, HK1, HMBS, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, IARS2, IGHMBP2, INF2, ITPR1, JPH1, JUP, KARS1, KCNA1, KIF1A, KIF1B, KIF5A, KLC2, KRAS, L1CAM, LAMA4, LAMP2, LAS1L, LDB3, LITAF, LMNA, LRSAM1, MAP2K1, MAP2K2, MARS1, MCM3AP, MED25, MEGF10, MFN2, MME, MORC2, MPV17, MPZ, MRE11, MTMR2, MTRFR, MTTP, MYBPC3, MYH14, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NAGLU, NDRG1, NEBL, NEFH, NEFL, NEXN, NGF, NRAS, NTRK1, OPA1, PDHA1, PDK3, PDLIM3, PEX7, PHYH, PKP2, PLEKHG5, PLN, PLP1, PMP22, PNPLA6, POLG, POLG2, PRDM12, PRKAG2, PRKCG, PRPS1, PRX, PTPN11, RAB7A, RAF1, RBM20, REEP1, RETREG1, RNF170, RYR2, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN5A, SCN9A, SCO2, SCP2, SEPTIN9, SETX, SGCD, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC1A3, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SNAP29, SORD, SOS1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TAFAZZIN, TBCE, TCAP, TDP1, TFG, TK2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRIM2, TRPV4, TTBK2, TTN, TTPA, TTR, TWNK, TYMP, UBA1, VAPB, VCL, VCP, WASHC5, WNK1, YARS1, ZFYVE26, ZFYVE27

Super Painel

Super Painel para Neuropatias

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

229 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: AAAS, AARS1, ABCC9, ABHD12, ACTC1, ACTN2, AIFM1, ALDH3A2, ANKRD1, AP1S1…

Ver conteúdo completo

AAAS, AARS1, ABCC9, ABHD12, ACTC1, ACTN2, AIFM1, ALDH3A2, ANKRD1, AP1S1, APTX, ARHGEF10, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, BAG3, BRAF, BSCL2, CACNB4, CASQ2, CCT5, CHCHD10, CLTCL1, COA7, COQ7, COQ8A, COX6A1, CRYAB, CSRP3, CTDP1, CYP7B1, DCAF8, DCTN1, DES, DHH, DHTKD1, DMD, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DSC2, DSG2, DSP, DST, DTNA, DYNC1H1, EGR2, ELP1, EMD, EXOC4, FBLN5, FBXO38, FGD4, FGF14, FIG4, FKTN, FXN, GAA, GAN, GARS1, GATAD1, GBE1, GDAP1, GJB1, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXA, HINT1, HK1, HMBS, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, IARS2, IGHMBP2, INF2, ITPR1, JPH1, JUP, KARS1, KCNA1, KIF1A, KIF1B, KIF5A, KLC2, KRAS, L1CAM, LAMA4, LAMP2, LAS1L, LDB3, LITAF, LMNA, LRSAM1, MAP2K1, MAP2K2, MARS1, MCM3AP, MED25, MEGF10, MFN2, MME, MORC2, MPV17, MPZ, MRE11, MTMR2, MTRFR, MTTP, MYBPC3, MYH14, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NAGLU, NDRG1, NEBL, NEFH, NEFL, NEXN, NGF, NRAS, NTRK1, OPA1, PDHA1, PDK3, PDLIM3, PEX7, PHYH, PKP2, PLEKHG5, PLN, PLP1, PMP22, PNPLA6, POLG, POLG2, PRDM12, PRKAG2, PRKCG, PRPS1, PRX, PTPN11, RAB7A, RAF1, RBM20, REEP1, RETREG1, RNF170, RYR2, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN5A, SCN9A, SCO2, SCP2, SEPTIN9, SETX, SGCD, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC1A3, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SNAP29, SORD, SOS1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TAFAZZIN, TBCE, TCAP, TDP1, TFG, TK2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRIM2, TRPV4, TTBK2, TTN, TTPA, TTR, TWNK, TYMP, UBA1, VAPB, VCL, VCP, WASHC5, WNK1, YARS1, ZFYVE26, ZFYVE27

NeoPainel

NeoPainel para Paraplegias Espásticas e Esclerose Lateral Amiotrófica

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

155 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCD1, ABHD12, ACO2, ACOX1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2…

Ver conteúdo completo

ABCD1, ABHD12, ACO2, ACOX1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2, ANG, ANXA11, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARHGEF28, ARL6IP1, ATL1, ATL3, ATP13A2, ATRX, B4GALNT1, BICD2, BSCL2, C19ORF12, CAPN1, CCT5, CFAP410, CHCHD10, CHGB, CHMP2B, CRYM, CYP27A1, CYP2U1, CYP7B1, DAO, DARS1, DCTN1, DDHD1, DDHD2, DSTYK, DYNC1H1, ENTPD1, ERBB4, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, FIG4, FUS, GAD1, GARS1, GBA2, GCH1, GJC2, GM2A, GRN, HACE1, HEXA, HEXB, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, HSPD1, IBA57, IFIH1, IGHMBP2, ITPR1, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, LUM, LYST, MAG, MAPT, MARS1, MARS2, MATR3, MFN2, MTPAP, MTRFR, NARS2, NEFH, NEK1, NIPA1, NT5C2, OPA3, OPTN, PARK7, PFN1, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, PRPH, PSEN1, RAB3GAP2, REEP1, REEP2, RNF170, RTN2, SACS, SARS2, SERAC1, SETX, SIGMAR1, SLC16A2, SLC25A15, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, SQSTM1, TAF15, TARDBP, TBK1, TECPR2, TFG, TP73, TREM2, TRPM7, TRPV4, TUBA4A, TUBB4A, UBAP1, UBQLN2, UCHL1, UNC13A, UNC80, USP8, VAMP1, VAPB, VCP, VEGFA, VPS37A, WASHC5, WDR45B, ZEB2, ZFYVE26, ZFYVE27

Super Painel

Super Painel para Paraplegias Espásticas e Esclerose Lateral Amiotrófica

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

155 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCD1, ABHD12, ACO2, ACOX1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2…

Ver conteúdo completo

ABCD1, ABHD12, ACO2, ACOX1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2, ANG, ANXA11, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARHGEF28, ARL6IP1, ATL1, ATL3, ATP13A2, ATRX, B4GALNT1, BICD2, BSCL2, C19ORF12, CAPN1, CCT5, CFAP410, CHCHD10, CHGB, CHMP2B, CRYM, CYP27A1, CYP2U1, CYP7B1, DAO, DARS1, DCTN1, DDHD1, DDHD2, DSTYK, DYNC1H1, ENTPD1, ERBB4, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, FIG4, FUS, GAD1, GARS1, GBA2, GCH1, GJC2, GM2A, GRN, HACE1, HEXA, HEXB, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, HSPD1, IBA57, IFIH1, IGHMBP2, ITPR1, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, LUM, LYST, MAG, MAPT, MARS1, MARS2, MATR3, MFN2, MTPAP, MTRFR, NARS2, NEFH, NEK1, NIPA1, NT5C2, OPA3, OPTN, PARK7, PFN1, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, PRPH, PSEN1, RAB3GAP2, REEP1, REEP2, RNF170, RTN2, SACS, SARS2, SERAC1, SETX, SIGMAR1, SLC16A2, SLC25A15, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, SQSTM1, TAF15, TARDBP, TBK1, TECPR2, TFG, TP73, TREM2, TRPM7, TRPV4, TUBA4A, TUBB4A, UBAP1, UBQLN2, UCHL1, UNC13A, UNC80, USP8, VAMP1, VAPB, VCP, VEGFA, VPS37A, WASHC5, WDR45B, ZEB2, ZFYVE26, ZFYVE27

Especialidade

Oftalmologia

2 opções disponíveis

NeoPainel

NeoPainel para Retinopatias Hereditárias

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

367 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCA4, ABCB5, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTS9…

Ver conteúdo completo

ABCA4, ABCB5, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTS9, ADAMTSL4, ADGRV1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, ALMS1, ALPK1, AMACR, ARFGAP2, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ASRGL1, ATF6, ATOH7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP120, CEP162, CEP164, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP20, CFAP410, CFAP418, CFH, CHM, CIB2, CISD2, CLCC1, CLEC3B, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CPLANE1, CRB1, CRPPA, CRX, CSPP1, CTNNA1, CTNNB1, CTSD, CTSF, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, DNAJC5, DNM1L, DRAM2, DYNC2H1, EFEMP1, ELOVL4, EMC1, ERCC6, ESPN, EXOSC2, EYS, FAM161A, FBLN5, FDXR, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HGSNAT, HK1, HKDC1, HMCN1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT54, IFT74, IFT88, IGFBP7, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, IRX5, ITM2B, JAG1, KCNJ13, KCNV2, KCTD7, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF3B, KIF7, KIZ, KLHL7, LAMA1, LARGE1, LCA5, LRAT, LRIT3, LRMDA, LRP2, LRP5, LYST, LZTFL1, MAK, MAPKAPK3, MERTK, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MMACHC, MTPAP, MTRFR, MTTP, MVK, MYO7A, NBAS, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUMB, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1SW, OTX2, PAK2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PIBF1, PISD, PITPNM3, PLK4, PNPLA6, POC1B, POC5, POMGNT1, PPP2R3C, PPP2R5E, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PYGM, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SCAPER, SCLT1, SDCCAG8, SEMA4A, SIX6, SLC24A1, SLC24A5, SLC25A46, SLC30A7, SLC39A12, SLC45A2, SLC66A1, SLC6A6, SLC7A14, SNRNP200, SPATA7, SSBP1, STX3, SUFU, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TLCD3B, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOGARAM1, TOPORS, TPP1, TRAPPC3, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TXNDC15, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, USO1, USP45, VCAN, VPS13B, VSX2, WDPCP, WDR19, WFS1, WHRN, YME1L1, ZNF408, ZNF423, ZNF513

Super Painel

Super Painel para Retinopatias Hereditárias

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

367 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCA4, ABCB5, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTS9…

Ver conteúdo completo

ABCA4, ABCB5, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTS9, ADAMTSL4, ADGRV1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, ALMS1, ALPK1, AMACR, ARFGAP2, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ASRGL1, ATF6, ATOH7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CASK, CC2D2A, CDH23, CDH3, CDHR1, CEP120, CEP162, CEP164, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP20, CFAP410, CFAP418, CFH, CHM, CIB2, CISD2, CLCC1, CLEC3B, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CPLANE1, CRB1, CRPPA, CRX, CSPP1, CTNNA1, CTNNB1, CTSD, CTSF, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, DNAJC5, DNM1L, DRAM2, DYNC2H1, EFEMP1, ELOVL4, EMC1, ERCC6, ESPN, EXOSC2, EYS, FAM161A, FBLN5, FDXR, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HGSNAT, HK1, HKDC1, HMCN1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT54, IFT74, IFT88, IGFBP7, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, IRX5, ITM2B, JAG1, KCNJ13, KCNV2, KCTD7, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF3B, KIF7, KIZ, KLHL7, LAMA1, LARGE1, LCA5, LRAT, LRIT3, LRMDA, LRP2, LRP5, LYST, LZTFL1, MAK, MAPKAPK3, MERTK, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MMACHC, MTPAP, MTRFR, MTTP, MVK, MYO7A, NBAS, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NUMB, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1SW, OTX2, PAK2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PIBF1, PISD, PITPNM3, PLK4, PNPLA6, POC1B, POC5, POMGNT1, PPP2R3C, PPP2R5E, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PYGM, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SCAPER, SCLT1, SDCCAG8, SEMA4A, SIX6, SLC24A1, SLC24A5, SLC25A46, SLC30A7, SLC39A12, SLC45A2, SLC66A1, SLC6A6, SLC7A14, SNRNP200, SPATA7, SSBP1, STX3, SUFU, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TLCD3B, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOGARAM1, TOPORS, TPP1, TRAPPC3, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TXNDC15, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, USO1, USP45, VCAN, VPS13B, VSX2, WDPCP, WDR19, WFS1, WHRN, YME1L1, ZNF408, ZNF423, ZNF513

Especialidade

Oncologia

16 opções disponíveis

NeoPainel

NeoPainel Câncer

Baseado em exoma (WES)

Detalhes

Método-base

Exoma com painel oncológico curado e pipelines específicos para PMS2 e inserção Alu em BRCA2.

Genes

106 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Cobertura exômica nos genes-alvo, regiões codificantes e bordas de splice; CNVs em eventos de três ou mais éxons.

Prévia: AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A…

Ver conteúdo completo

AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DDX41, DICER1, DKC1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FAN1, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, HRAS, KIF1B, KIT, LZTR1, MAX, MDH2, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, POT1, PRF1, PRKAR1A, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RHBDF2, RNF43, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRAP53, WT1, XRCC2

Super Painel

Super Painel de Câncer

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento completo do genoma (WGS) com painel curado de 106 genes de risco.

Genes

106 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

CNVs a partir de um éxon, regiões intrônicas e regulatórias relevantes, PRS para câncer de mama e farmacogenômica oncológica.

Prévia: AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A…

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AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DDX41, DICER1, DKC1, EGFR, EGLN1, EPCAM, EXT1, EXT2, FAN1, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, HRAS, KIF1B, KIT, LZTR1, MAX, MDH2, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, POT1, PRF1, PRKAR1A, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, RHBDF2, RNF43, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRAP53, WT1, XRCC2

NeoPainel

NeoPainel para Câncer Colorretal Hereditário

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

46 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: APC, ATM, AXIN2, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1…

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APC, ATM, AXIN2, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EGFR, EPCAM, FANCC, FLCN, GALNT12, GREM1, IPMK, MBD4, MEN1, MET, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, PMS2CL, POLD1, POLE, PTEN, RABL3, RAD51C, RAD51D, RECQL, RET, RNF43, RPS20, SMAD4, STK11, TP53

Super Painel

Super Painel para Câncer Colorretal Hereditário

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

46 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: APC, ATM, AXIN2, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1…

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APC, ATM, AXIN2, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EGFR, EPCAM, FANCC, FLCN, GALNT12, GREM1, IPMK, MBD4, MEN1, MET, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, PMS2CL, POLD1, POLE, PTEN, RABL3, RAD51C, RAD51D, RECQL, RET, RNF43, RPS20, SMAD4, STK11, TP53

NeoPainel

NeoPainel para Câncer de Mama e Ovário Hereditário

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

101 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: AIP, AKT1, ALK, APC, ATM, ATP4A, ATR, AXIN2, BAP1, BARD1…

Ver conteúdo completo

AIP, AKT1, ALK, APC, ATM, ATP4A, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK1, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, IPMK, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RABL3, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RNF43, RPS20, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2

Super Painel

Super Painel para Câncer de Mama e Ovário Hereditário

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

101 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: AIP, AKT1, ALK, APC, ATM, ATP4A, ATR, AXIN2, BAP1, BARD1…

Ver conteúdo completo

AIP, AKT1, ALK, APC, ATM, ATP4A, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK1, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, IPMK, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RABL3, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RNF43, RPS20, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2

NeoPainel

NeoPainel para Câncer de Próstata Hereditário

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

39 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CDK4…

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ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CDK4, CDKN2A, CHEK1, CHEK2, EGFR, EPCAM, FANCA, FANCC, FANCL, FANCM, HOXB13, MEN1, MET, MLH1, MRE11, MSH2, MSH6, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51, RAD51B, RAD51C, RAD51D, RET, STK11, TP53

Super Painel

Super Painel para Câncer de Próstata Hereditário

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

39 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CDK4…

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ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CDK4, CDKN2A, CHEK1, CHEK2, EGFR, EPCAM, FANCA, FANCC, FANCL, FANCM, HOXB13, MEN1, MET, MLH1, MRE11, MSH2, MSH6, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51, RAD51B, RAD51C, RAD51D, RET, STK11, TP53

NeoPainel

NeoPainel para Câncer Gástrico Hereditário

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

28 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: APC, ATM, BLM, BMPR1A, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, GREM1…

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APC, ATM, BLM, BMPR1A, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, GREM1, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, PALB2, PDGFRA, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, STK11, TP53, VHL

Super Painel

Super Painel para Câncer Gástrico Hereditário

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

28 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: APC, ATM, BLM, BMPR1A, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, GREM1…

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APC, ATM, BLM, BMPR1A, BRCA1, BRCA2, CDH1, CTNNA1, EPCAM, GREM1, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NF1, PALB2, PDGFRA, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, STK11, TP53, VHL

NeoPainel

NeoPainel para Câncer Hereditário com CNV

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

246 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ACD, AIP, AKT1, ALK, ANKRD26, APC, ARMC5, ASXL1, ATM, ATP4A…

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ACD, AIP, AKT1, ALK, ANKRD26, APC, ARMC5, ASXL1, ATM, ATP4A, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CABLES1, CASP10, CASP9, CBL, CD70, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK1, CHEK2, CREBBP, CSF3R, CTC1, CTNNA1, CTNNB1, CTR9, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, DLST, DNAJC21, DNMT3B, DOCK8, EFL1, EGFR, EGLN1, EGLN2, EPAS1, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ETV6, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FBXW7, FGFR1, FH, FIBP, FLCN, GALNT12, GATA1, GATA2, GLMN, GNAS, GPC3, GREM1, HNF1A, HNF1B, HOXB13, HRAS, IPMK, JAG1, JAK2, KDM1A, KDM3B, KIF1B, KIT, KLLN, KRAS, LDAH, LIG4, LZTR1, MAD2L2, MAGT1, MAP2K1, MAP2K2, MAP3K1, MAX, MBD4, MC1R, MCM4, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MTAP, MUTYH, MYCN, NBN, NF1, NF2, NHP2, NOP10, NRAS, NSD1, NTHL1, NYNRIN, PALB2, PARN, PAX5, PBRM1, PDGFB, PDGFRA, PDGFRB, PHOX2B, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPP2R3B, PRF1, PRKAR1A, PSMC3IP, PTCH1, PTCH2, PTEN, PTPN11, RABL3, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54L, RAF1, RASA2, RB1, RBBP6, RECQL, RECQL4, RET, RFWD3, RHBDF2, RMI2, RNF139, RNF43, RPS20, RRAS, RSPO1, RTEL1, RUNX1, SAMD9, SAMD9L, SASH1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SETBP1, SH2B3, SH2D1A, SHOC2, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCAD1, SMARCB1, SMARCE1, SOS1, SPRTN, SRP54, SRP72, STAT3, STK11, SUFU, TERC, TERF2IP, TERT, TET2, TGFBR2, THSD1, TINF2, TMC6, TMC8, TMEM127, TOP3A, TP53, TPCN2, TRIM28, TRIP13, TSC1, TSC2, UBE2T, USP8, VHL, WAS, WIPF1, WRAP53, WRN, WT1, XIAP, XPA, XPC, XRCC2, ZNF687

Super Painel

Super Painel para Câncer Hereditário com CNV

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

246 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ACD, AIP, AKT1, ALK, ANKRD26, APC, ARMC5, ASXL1, ATM, ATP4A…

Ver conteúdo completo

ACD, AIP, AKT1, ALK, ANKRD26, APC, ARMC5, ASXL1, ATM, ATP4A, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CABLES1, CASP10, CASP9, CBL, CD70, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK1, CHEK2, CREBBP, CSF3R, CTC1, CTNNA1, CTNNB1, CTR9, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, DLST, DNAJC21, DNMT3B, DOCK8, EFL1, EGFR, EGLN1, EGLN2, EPAS1, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ETV6, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FBXW7, FGFR1, FH, FIBP, FLCN, GALNT12, GATA1, GATA2, GLMN, GNAS, GPC3, GREM1, HNF1A, HNF1B, HOXB13, HRAS, IPMK, JAG1, JAK2, KDM1A, KDM3B, KIF1B, KIT, KLLN, KRAS, LDAH, LIG4, LZTR1, MAD2L2, MAGT1, MAP2K1, MAP2K2, MAP3K1, MAX, MBD4, MC1R, MCM4, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MTAP, MUTYH, MYCN, NBN, NF1, NF2, NHP2, NOP10, NRAS, NSD1, NTHL1, NYNRIN, PALB2, PARN, PAX5, PBRM1, PDGFB, PDGFRA, PDGFRB, PHOX2B, PIK3CA, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPP2R3B, PRF1, PRKAR1A, PSMC3IP, PTCH1, PTCH2, PTEN, PTPN11, RABL3, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54L, RAF1, RASA2, RB1, RBBP6, RECQL, RECQL4, RET, RFWD3, RHBDF2, RMI2, RNF139, RNF43, RPS20, RRAS, RSPO1, RTEL1, RUNX1, SAMD9, SAMD9L, SASH1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SETBP1, SH2B3, SH2D1A, SHOC2, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCAD1, SMARCB1, SMARCE1, SOS1, SPRTN, SRP54, SRP72, STAT3, STK11, SUFU, TERC, TERF2IP, TERT, TET2, TGFBR2, THSD1, TINF2, TMC6, TMC8, TMEM127, TOP3A, TP53, TPCN2, TRIM28, TRIP13, TSC1, TSC2, UBE2T, USP8, VHL, WAS, WIPF1, WRAP53, WRN, WT1, XIAP, XPA, XPC, XRCC2, ZNF687

NeoPainel

NeoPainel para Feocromocitoma e Paraganglioma

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

27 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ATM, ATR, CDKN2A, DLST, EGLN1, EGLN2, EPAS1, FH, HRAS, KIF1B…

Ver conteúdo completo

ATM, ATR, CDKN2A, DLST, EGLN1, EGLN2, EPAS1, FH, HRAS, KIF1B, KMT2D, MAX, MDH2, MEN1, MERTK, MET, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, TMEM127, TP53, VHL

Super Painel

Super Painel para Feocromocitoma e Paraganglioma

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

27 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ATM, ATR, CDKN2A, DLST, EGLN1, EGLN2, EPAS1, FH, HRAS, KIF1B…

Ver conteúdo completo

ATM, ATR, CDKN2A, DLST, EGLN1, EGLN2, EPAS1, FH, HRAS, KIF1B, KMT2D, MAX, MDH2, MEN1, MERTK, MET, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, TMEM127, TP53, VHL

NeoPainel

NeoPainel para Síndrome de Lynch com análise de CNV

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

11 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ATM, BLM, CHEK2, EPCAM, GALNT12, MLH1, MSH2, MSH6, PMS2, PMS2CL…

Ver conteúdo completo

ATM, BLM, CHEK2, EPCAM, GALNT12, MLH1, MSH2, MSH6, PMS2, PMS2CL, TP53

Super Painel

Super Painel para Síndrome de Lynch com análise de CNV

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

11 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ATM, BLM, CHEK2, EPCAM, GALNT12, MLH1, MSH2, MSH6, PMS2, PMS2CL…

Ver conteúdo completo

ATM, BLM, CHEK2, EPCAM, GALNT12, MLH1, MSH2, MSH6, PMS2, PMS2CL, TP53

Especialidade

Ortopedia

4 opções disponíveis

NeoPainel

NeoPainel para Craniossinostoses

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

65 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ADAMTSL4, ALX4, ASXL1, B3GAT3, CDC45, CDT1, COLEC11, CYP26B1, EFNB1, ERF…

Ver conteúdo completo

ADAMTSL4, ALX4, ASXL1, B3GAT3, CDC45, CDT1, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FBN1, FGFR1, FGFR2, FGFR3, FREM1, GINS2, GLI3, GPC3, IFT122, IFT140, IFT43, IGF1R, IHH, IL11RA, KAT6A, KAT6B, MASP1, MEGF8, MSX2, NFIA, ORC1, ORC4, ORC6, PAN2, POLR2A, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SCARF2, SEC24D, SIM2, SIX1, SIX2, SKI, SLC25A24, SMAD2, SMAD3, SMAD6, SOX6, SPECC1L, STAT3, TCF12, TCOF1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1

Super Painel

Super Painel para Craniossinostoses

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

65 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ADAMTSL4, ALX4, ASXL1, B3GAT3, CDC45, CDT1, COLEC11, CYP26B1, EFNB1, ERF…

Ver conteúdo completo

ADAMTSL4, ALX4, ASXL1, B3GAT3, CDC45, CDT1, COLEC11, CYP26B1, EFNB1, ERF, ESCO2, FBN1, FGFR1, FGFR2, FGFR3, FREM1, GINS2, GLI3, GPC3, IFT122, IFT140, IFT43, IGF1R, IHH, IL11RA, KAT6A, KAT6B, MASP1, MEGF8, MSX2, NFIA, ORC1, ORC4, ORC6, PAN2, POLR2A, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SCARF2, SEC24D, SIM2, SIX1, SIX2, SKI, SLC25A24, SMAD2, SMAD3, SMAD6, SOX6, SPECC1L, STAT3, TCF12, TCOF1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1

NeoPainel

NeoPainel para Displasias Esqueléticas

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

671 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCC9, ABL1, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADAMTSL2, ADGRV1…

Ver conteúdo completo

ABCC9, ABL1, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADAMTSL2, ADGRV1, ADI1, AFF3, AFF4, AGA, AGPS, AHI1, AIFM1, AIPL1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARSB, ARSL, ASCC1, ASPM, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, ATRIP, ATXN10, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC134, CCDC28B, CCDC39, CCDC40, CCDC8, CCN6, CCNQ, CD96, CDC45, CDC6, CDH23, CDH3, CDK5RAP2, CDKN1C, CDT1, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CFAP410, CFTR, CHST11, CHST14, CHST3, CHSY1, CHUK, CILK1, CKAP2L, CLCN5, CLCN7, CLRN1, COG1, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL5A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, CPAP, CPLANE1, CRB1, CREB3L1, CREBBP, CRELD1, CRIPT, CRTAP, CRX, CSF1R, CSGALNACT1, CSPP1, CTNS, CTSA, CTSC, CTSK, CUL7, CWC27, CYP26B1, CYP27B1, CYP2R1, DACT1, DCC, DDR2, DDRGK1, DHCR24, DHODH, DIP2C, DIS3L2, DLL1, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3A, DOCK6, DOLPP1, DONSON, DPM1, DPM2, DPM3, DSE, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EDNRA, EED, EFNB1, EFTUD2, EHHADH, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, ESR1, ETF1, EVC, EVC2, EXOC6B, EXOSC2, EXT1, EXT2, EXTL3, EZH2, FAH, FAM111A, FAM20B, FAM20C, FAR1, FAT4, FBLIM1, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FNDC3B, FOXC1, FOXH1, FTO, FUCA1, FZD2, GALNS, GALNT3, GDF1, GDF3, GDF5, GDF6, GHR, GHRHR, GHSR, GJA1, GLB1, GLI1, GLI3, GLIS2, GMNN, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GSC, GUCY2D, GUSB, GZF1, HDAC4, HDAC5, HDAC6, HDAC8, HES7, HGSNAT, HNF4A, HNRNPA1, HNRNPA2B1, HNRNPK, HOXA11, HOXA13, HOXD11, HOXD13, HPGD, HSPG2, HYAL1, HYLS1, IARS2, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT54, IFT57, IFT74, IFT80, IFT81, IFT88, IGF1, IGF1R, IGF2, IHH, IKBKG, IL11RA, IL1RN, IMPDH1, INPPL1, INTU, INVS, IQCB1, IQCE, JAG1, KAT6A, KAT6B, KCNJ13, KCNT2, KDELR2, KIAA0586, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, KYNU, LARP7, LBR, LCA5, LEFTY2, LEMD3, LFNG, LIFR, LIG4, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRAT, LRP4, LRP5, LRP6, LRRK1, LTBP2, LTBP3, MAFB, MAN2B1, MAN2C1, MANBA, MAP3K20, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MCM3, MCM5, MCM7, MCPH1, MECOM, MEGF8, MEOX1, MESD, MESP2, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSX2, MTAP, MYCN, MYH3, MYO18B, MYO7A, MYT1, NAGLU, NANS, NBAS, NEK1, NEK8, NEU1, NF1, NFIX, NIN, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NPPC, NPR2, NPR3, NSD1, NSDHL, NSMCE2, NT5E, NTRK1, NUDT6, NXN, OAT, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSTM1, PAM16, PAPSS2, PAX3, PCARE, PCDH15, PCGF2, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHF6, PHGDH, PHLDB1, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PIN1, PIR, PISD, PITX1, PKD2, PKDCC, PKHD1, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, PORCN, PPIB, PPP3CA, PRG4, PRKAR1A, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PTPRQ, PUF60, PYCR1, RAB23, RAB33B, RAB3GAP2, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RD3, RDH12, RECQL4, RFT1, RIGI, RIN1, RIPPLY2, RMRP, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPL13, RSPH4A, RSPH9, RSPO2, RSPRY1, RTTN, RUNX2, SALL1, SALL4, SBDS, SC5D, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC23A, SEC24D, SEM1, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SIK3, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPATA7, SPECC1L, SQSTM1, SRCAP, SUCO, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDP2, TENT5A, TERT, TGDS, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM256, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TONSL, TOPORS, TP63, TRAIP, TRAPPC2, TREM2, TRIM32, TRIM37, TRIP11, TRIP4, TRMT10A, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TSLIG3C, TTC21B, TTC8, TUBGCP4, TUBGCP6, TULP1, TWIST1, TWIST2, TYROBP, UBE3B, UFSP2, UMOD, UNC45A, USH1C, USH1G, USH2A, USP9X, VAC14, VCP, VDR, VHL, VPS33A, WDPCP, WDR19, WDR35, WDR4, WHRN, WNT1, WNT10B, WNT3, WNT3A, WNT5A, WNT7A, WRN, XPNPEP3, XRCC4, XYLT1, XYLT2, YY1, ZBTB16, ZIC1, ZIC3, ZMPSTE24, ZNF141, ZNF423, ZNF687, ZSWIM6

Super Painel

Super Painel para Displasias Esqueléticas

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

671 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: ABCC9, ABL1, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADAMTSL2, ADGRV1…

Ver conteúdo completo

ABCC9, ABL1, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADAMTSL2, ADGRV1, ADI1, AFF3, AFF4, AGA, AGPS, AHI1, AIFM1, AIPL1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARSB, ARSL, ASCC1, ASPM, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, ATRIP, ATXN10, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC134, CCDC28B, CCDC39, CCDC40, CCDC8, CCN6, CCNQ, CD96, CDC45, CDC6, CDH23, CDH3, CDK5RAP2, CDKN1C, CDT1, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CFAP410, CFTR, CHST11, CHST14, CHST3, CHSY1, CHUK, CILK1, CKAP2L, CLCN5, CLCN7, CLRN1, COG1, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL5A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, CPAP, CPLANE1, CRB1, CREB3L1, CREBBP, CRELD1, CRIPT, CRTAP, CRX, CSF1R, CSGALNACT1, CSPP1, CTNS, CTSA, CTSC, CTSK, CUL7, CWC27, CYP26B1, CYP27B1, CYP2R1, DACT1, DCC, DDR2, DDRGK1, DHCR24, DHODH, DIP2C, DIS3L2, DLL1, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3A, DOCK6, DOLPP1, DONSON, DPM1, DPM2, DPM3, DSE, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EDNRA, EED, EFNB1, EFTUD2, EHHADH, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, ESR1, ETF1, EVC, EVC2, EXOC6B, EXOSC2, EXT1, EXT2, EXTL3, EZH2, FAH, FAM111A, FAM20B, FAM20C, FAR1, FAT4, FBLIM1, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FNDC3B, FOXC1, FOXH1, FTO, FUCA1, FZD2, GALNS, GALNT3, GDF1, GDF3, GDF5, GDF6, GHR, GHRHR, GHSR, GJA1, GLB1, GLI1, GLI3, GLIS2, GMNN, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GSC, GUCY2D, GUSB, GZF1, HDAC4, HDAC5, HDAC6, HDAC8, HES7, HGSNAT, HNF4A, HNRNPA1, HNRNPA2B1, HNRNPK, HOXA11, HOXA13, HOXD11, HOXD13, HPGD, HSPG2, HYAL1, HYLS1, IARS2, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT54, IFT57, IFT74, IFT80, IFT81, IFT88, IGF1, IGF1R, IGF2, IHH, IKBKG, IL11RA, IL1RN, IMPDH1, INPPL1, INTU, INVS, IQCB1, IQCE, JAG1, KAT6A, KAT6B, KCNJ13, KCNT2, KDELR2, KIAA0586, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, KYNU, LARP7, LBR, LCA5, LEFTY2, LEMD3, LFNG, LIFR, LIG4, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRAT, LRP4, LRP5, LRP6, LRRK1, LTBP2, LTBP3, MAFB, MAN2B1, MAN2C1, MANBA, MAP3K20, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MCM3, MCM5, MCM7, MCPH1, MECOM, MEGF8, MEOX1, MESD, MESP2, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSX2, MTAP, MYCN, MYH3, MYO18B, MYO7A, MYT1, NAGLU, NANS, NBAS, NEK1, NEK8, NEU1, NF1, NFIX, NIN, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NPPC, NPR2, NPR3, NSD1, NSDHL, NSMCE2, NT5E, NTRK1, NUDT6, NXN, OAT, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSTM1, PAM16, PAPSS2, PAX3, PCARE, PCDH15, PCGF2, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHF6, PHGDH, PHLDB1, PIGT, PIGV, PIK3C2A, PIK3CA, PIK3R1, PIN1, PIR, PISD, PITX1, PKD2, PKDCC, PKHD1, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, PORCN, PPIB, PPP3CA, PRG4, PRKAR1A, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PTPRQ, PUF60, PYCR1, RAB23, RAB33B, RAB3GAP2, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RD3, RDH12, RECQL4, RFT1, RIGI, RIN1, RIPPLY2, RMRP, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPL13, RSPH4A, RSPH9, RSPO2, RSPRY1, RTTN, RUNX2, SALL1, SALL4, SBDS, SC5D, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC23A, SEC24D, SEM1, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SIK3, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPATA7, SPECC1L, SQSTM1, SRCAP, SUCO, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TDP2, TENT5A, TERT, TGDS, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM256, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TONSL, TOPORS, TP63, TRAIP, TRAPPC2, TREM2, TRIM32, TRIM37, TRIP11, TRIP4, TRMT10A, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TSLIG3C, TTC21B, TTC8, TUBGCP4, TUBGCP6, TULP1, TWIST1, TWIST2, TYROBP, UBE3B, UFSP2, UMOD, UNC45A, USH1C, USH1G, USH2A, USP9X, VAC14, VCP, VDR, VHL, VPS33A, WDPCP, WDR19, WDR35, WDR4, WHRN, WNT1, WNT10B, WNT3, WNT3A, WNT5A, WNT7A, WRN, XPNPEP3, XRCC4, XYLT1, XYLT2, YY1, ZBTB16, ZIC1, ZIC3, ZMPSTE24, ZNF141, ZNF423, ZNF687, ZSWIM6

Especialidade

Otorrinolaringologia

2 opções disponíveis

NeoPainel

NeoPainel para Surdez Hereditária (Expandido)

Baseado em exoma (WES)

Detalhes

Método-base

Exoma

Genes

368 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Prévia: A2ML1, ABHD12, ABHD5, ACOX1, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALDH1A2…

Ver conteúdo completo

A2ML1, ABHD12, ABHD5, ACOX1, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALDH1A2, ALMS1, AP1B1, APAF1, AQP4, ARSB, ARSG, ATOH1, ATP11A, ATP1A2, ATP1A3, ATP2B2, ATP6V0A4, ATP6V1B1, ATP8B1, AXIN1, BBS1, BBS4, BCAP31, BCR, BCS1L, BDP1, BLOC1S6, BMP4, BSND, BTD, CABP2, CACNA1D, CACNB2, CACNG2, CASP3, CATSPER2, CCDC50, CD151, CDC14A, CDH23, CDKN1B, CEACAM16, CELSR1, CEP250, CHD7, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, CLRN2, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, DCDC2, DDB2, DDR1, DIABLO, DIAPH1, DIAPH3, DIO2, DLX5, DMD, DMXL2, DNAJC3, DNMT1, DSPP, ECE1, EDN1, EDN3, EDNRA, EDNRB, EFTUD2, ELMOD3, EPHB2, EPS8, EPS8L2, ERAL1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ESPN, ESRRB, EYA1, EYA4, FABP4, FAS, FDXR, FGF3, FGFR1, FGFR2, FGFR3, FITM2, FKBP14, FOXC1, FOXI1, FZD3, FZD6, GALNS, GATA3, GDF6, GFER, GFI1, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB4, GJB6, GLB1, GLI3, GNAI3, GPR156, GPRASP2, GPSM2, GPX1, GRAP, GREB1L, GRHL2, GRID1, GRXCR1, GRXCR2, GSDME, GSTP1, GUSB, HAL, HARS1, HARS2, HGF, HGSNAT, HMX2, HOMER2, HOXA2, HSD17B4, HTRA2, IDS, IDUA, IFNLR1, IGF1, ILDR1, JAG1, JAG2, KARS1, KCNJ10, KCNMA1, KCNQ1, KCNQ4, KIT, KITLG, LAMA2, LARGE1, LARS2, LFNG, LHFPL5, LHX3, LMX1A, LOXHD1, LOXL3, LRP2, LRTOMT, MAFB, MAN2B1, MAP1B, MARVELD2, MASP1, MEOX1, MINAR2, MIR96, MITF, MKKS, MPV17, MPZL2, MRPS2, MSRB3, MSX2, MTAP, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, NAGLU, NARS2, NAV2, NDP, NDRG1, NEU1, NEUROD1, NF1, NF2, NLRP3, NOG, NOTCH1, NR2F1, NTF3, NTRK2, NTRK3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTX2, PAX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHEX, PHYH, PI4KB, PITX2, PJVK, PKHD1L1, PLCB4, PLS1, PMP22, PNPT1, POLD1, POLH, POLR1C, POLR1D, POU1F1, POU3F4, POU4F3, PROP1, PRPS1, PRRX1, PTK7, PTPRQ, RAI1, RASA1, RDX, REST, RIPOR2, RMND1, ROR1, RPGR, RPS6KA3, S1PR2, SALL1, SCARB2, SCRIB, SDHD, SEMA3E, SERAC1, SERPINB6, SGSH, SH3TC2, SIX1, SIX5, SLC12A2, SLC12A6, SLC17A8, SLC19A2, SLC1A3, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SLITRK6, SMARCA4, SMPX, SMS, SNAI2, SOBP, SOD1, SOX10, SOX2, SOX9, SPINK5, SPNS2, SPRY2, ST3GAL5, STRC, SYNE4, TBC1D24, TBL1X, TBX1, TBX10, TCF21, TCOF1, TECTA, TFAP2A, TGFB2, THRA, THRB, TIMM8A, TJP2, TMC1, TMEM126A, TMEM132E, TMEM43, TMIE, TMPRSS3, TMPRSS5, TNC, TPRN, TRIOBP, TRMT10C, TRMU, TRPV4, TRRAP, TSHZ1, TSPEAR, TUBB4B, TWNK, TYRP1, UBR1, USH1C, USH1G, USH2A, USP48, VANGL2, WBP2, WFS1, WHRN, XPA, XPC, XYLT2, YAP1, ZNF469

Super Painel

Super Painel para Surdez Hereditária (Expandido)

Baseado em genoma completo (WGS)

Detalhes

Método-base

Sequenciamento de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Genes

368 genes

Tradicional

30 dias corridos

Rápido

15 dias corridos

Diferenciais

Análise dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Prévia: A2ML1, ABHD12, ABHD5, ACOX1, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALDH1A2…

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A2ML1, ABHD12, ABHD5, ACOX1, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALDH1A2, ALMS1, AP1B1, APAF1, AQP4, ARSB, ARSG, ATOH1, ATP11A, ATP1A2, ATP1A3, ATP2B2, ATP6V0A4, ATP6V1B1, ATP8B1, AXIN1, BBS1, BBS4, BCAP31, BCR, BCS1L, BDP1, BLOC1S6, BMP4, BSND, BTD, CABP2, CACNA1D, CACNB2, CACNG2, CASP3, CATSPER2, CCDC50, CD151, CDC14A, CDH23, CDKN1B, CEACAM16, CELSR1, CEP250, CHD7, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, CLRN2, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, DCDC2, DDB2, DDR1, DIABLO, DIAPH1, DIAPH3, DIO2, DLX5, DMD, DMXL2, DNAJC3, DNMT1, DSPP, ECE1, EDN1, EDN3, EDNRA, EDNRB, EFTUD2, ELMOD3, EPHB2, EPS8, EPS8L2, ERAL1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ESPN, ESRRB, EYA1, EYA4, FABP4, FAS, FDXR, FGF3, FGFR1, FGFR2, FGFR3, FITM2, FKBP14, FOXC1, FOXI1, FZD3, FZD6, GALNS, GATA3, GDF6, GFER, GFI1, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB4, GJB6, GLB1, GLI3, GNAI3, GPR156, GPRASP2, GPSM2, GPX1, GRAP, GREB1L, GRHL2, GRID1, GRXCR1, GRXCR2, GSDME, GSTP1, GUSB, HAL, HARS1, HARS2, HGF, HGSNAT, HMX2, HOMER2, HOXA2, HSD17B4, HTRA2, IDS, IDUA, IFNLR1, IGF1, ILDR1, JAG1, JAG2, KARS1, KCNJ10, KCNMA1, KCNQ1, KCNQ4, KIT, KITLG, LAMA2, LARGE1, LARS2, LFNG, LHFPL5, LHX3, LMX1A, LOXHD1, LOXL3, LRP2, LRTOMT, MAFB, MAN2B1, MAP1B, MARVELD2, MASP1, MEOX1, MINAR2, MIR96, MITF, MKKS, MPV17, MPZL2, MRPS2, MSRB3, MSX2, MTAP, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, NAGLU, NARS2, NAV2, NDP, NDRG1, NEU1, NEUROD1, NF1, NF2, NLRP3, NOG, NOTCH1, NR2F1, NTF3, NTRK2, NTRK3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTX2, PAX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHEX, PHYH, PI4KB, PITX2, PJVK, PKHD1L1, PLCB4, PLS1, PMP22, PNPT1, POLD1, POLH, POLR1C, POLR1D, POU1F1, POU3F4, POU4F3, PROP1, PRPS1, PRRX1, PTK7, PTPRQ, RAI1, RASA1, RDX, REST, RIPOR2, RMND1, ROR1, RPGR, RPS6KA3, S1PR2, SALL1, SCARB2, SCRIB, SDHD, SEMA3E, SERAC1, SERPINB6, SGSH, SH3TC2, SIX1, SIX5, SLC12A2, SLC12A6, SLC17A8, SLC19A2, SLC1A3, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SLITRK6, SMARCA4, SMPX, SMS, SNAI2, SOBP, SOD1, SOX10, SOX2, SOX9, SPINK5, SPNS2, SPRY2, ST3GAL5, STRC, SYNE4, TBC1D24, TBL1X, TBX1, TBX10, TCF21, TCOF1, TECTA, TFAP2A, TGFB2, THRA, THRB, TIMM8A, TJP2, TMC1, TMEM126A, TMEM132E, TMEM43, TMIE, TMPRSS3, TMPRSS5, TNC, TPRN, TRIOBP, TRMT10C, TRMU, TRPV4, TRRAP, TSHZ1, TSPEAR, TUBB4B, TWNK, TYRP1, UBR1, USH1C, USH1G, USH2A, USP48, VANGL2, WBP2, WFS1, WHRN, XPA, XPC, XYLT2, YAP1, ZNF469

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