Guia do Exame

Instruções

Interpretação

Este exame realiza o sequenciamento dos genes: AARS2 ABCC6 ABCC9 ACAD8 ACAD9 ACADS ACADVL ACTA1 ACTC1 ACTN2 ADCY5 AGK AGL AHCY ALG1 ALG12 ALMS1 ALPK3 ANKS6 APOPT1 ARSB ATAD3A ATP5F1E ATPAF2 BAG3 BCS1L BMP2 BOLA3 BRAF BSCL2 C1QBP CACNA1C CALR3 CAV3 CAVIN1 CENPE CEP19 CHKB CLIC2 CLN3 COA5 COA6 COQ2 COQ4 COX10 COX14 COX15 COX20 COX6B1 COX7B CPT1A CPT2 CRYAB CSRP3 D2HGDH DCAF8 DES DLD DMD DNAJC19 DOLK DPM3 DPP6 DSG2 DSP DTNA ECHS1 ELAC2 EMD EPG5 ERBB3 EYA4 FAH FASTKD2 FBXL4 FHL1 FIG4 FKRP FKTN FLAD1 FLNC FOXRED1 FTO FUCA1 FXN GAA GATAD1 GBE1 GLA GLB1 GMPPB GNPTAB GNS GPC3 GSN GTPBP3 GYS1 HADH HADHA HADHB HCCS HGSNAT HPS1 HRAS HSD17B10 IDH2 IDUA ITPA JPH2 JUP KCNE1 KCNH1 KCNJ2 KCNQ1 LAMA4 LAMP2 LDB3 LIAS LMNA MAP2K1 MAP2K2 MCCC2 MGME1 MIB1 MLYCD MRPL3 MRPL44 MRPS22 MRPS7 MTFMT MTO1 MUT MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2 MYO6 MYOT MYOZ2 MYPN NAGLU NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NEXN NKX2-5 NONO NUBPL PAM16 PCCA PCCB PET100 PGM1 PHYH PIGT PLN PMM2 PNPLA2 POLG POMT1 PPCS PRDM16 PRG4 PRKAG2 PRKAR1A PSEN1 PSMB4 PSMB8 PSMB9 RAB3GAP2 RAF1 RBCK1 RBM20 RIT1 RMND1 RYR2 SCN5A SCO1 SCO2 SDHA SDHAF1 SDHD SELENON SGCA SGCB SGCD SGCG SGSH SHOC2 SLC19A2 SLC22A5 SLC25A20 SLC25A26 SLC25A3 SLC25A4 SOS1 SPEG SURF1 SYNE1 SYNE2 TACO1 TANGO2 TAPT1 TAZ TBX1 TBX3 TBX5 TCAP TF TIMMDC1 TMEM126A TMEM126B TMEM43 TMEM70 TMPO TNNC1 TNNI3 TNNI3K TNNT2 TOP3A TPM1 TPM3 TRIT1 TRMT5 TRNT1 TSC1 TSFM TTN TTR TWNK UBR1 VCL VPS33A WFS1 XK XPNPEP3 YARS2
 
*ATENÇÃO
O pedido médico deve ser enviado juntamente com a amostra.