Súper Panel para Miocardiopatias

Información del catálogo

Datos técnicos de Súper Panel para Miocardiopatias

Investigação genética de Miocardiopatias por Súper Panel, com análise direcionada baseada em genoma completo.

Aplicaciones

Enfermedades raras y hereditarias.

Muestras aceptadas

sangre periférica (preferido), hisopo bucal, DNA extraído

Plazo estimado

Tradicional · 30 días calendario, contados após confirmación del pedido.

Rápido · 15 días calendario, contados após confirmación del pedido.

método básico

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

Alcance analítico

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

Genes analizados

347 genes registrados en el alcance estructurado del examen.

Ver contenido 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

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