Genes Analisados
AARS2 AASS ABAT ABCA1 ABCB11 ABCB4 ABCB7 ABCD1 ABCD4 ABCG5 ABCG8 ABHD12 ABHD5 ACACA ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACO2 ACOX1 ACSF3 ACY1 ADA ADAR ADSL AFG3L2 AGA AGK AGL AGPS AGXT AHCY AIFM1 AKR1D1 ALAD ALAS2 ALDH18A1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG14 ALG3 ALG6 ALG8 ALG9 ALPL AMACR AMN AMT ANO10 APOA1 APOA5 APOB APOC2 APOE APOPT1 APRT APTX ARG1 ARSA ARSB ARSE ASAH1 ASL ASPA ASS1 ATAD3A ATIC ATP13A2 ATP5A1 ATP5D ATP5E ATP5G3 ATP5O ATP6AP1 ATP6V0A2 ATP7A ATP7B ATP8B1 ATPAF2 AUH B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT1 B4GALT7 BAAT BCAT2 BCKDHA BCKDHB BCKDK BCS1L BOLA3 BTD C12orf65 C19orf12 C19orf70 C1QBP CA5A CARS2 CAT CBS CCDC115 CHCHD10 CHKB CHST14 CHST3 CHST6 CHSY1 CISD2 CLDN16 CLDN19 CLN3 CLN5 CLN6 CLN8 CLPB CLPP CNNM2 COA6 COA7 COG1 COG4 COG5 COG6 COG7 COG8 COQ2 COQ4 COQ6 COQ7 COQ8A COQ8B COQ9 COX10 COX14 COX15 COX20 COX5A COX6A1 COX6B1 COX7B CP CPOX CPS1 CPT1A CPT2 CRLS1 CSGALNACT1 CTH CTNS CTSA CTSC CTSD CTSF CTSK CUBN CYC1 CYP27A1 CYP7B1 D2HGDH DARS DARS2 DBH DBT DCXR DDC DGUOK DHCR24 DHCR7 DHFR DHODH DHTKD1 DLAT DLD DNA2 DNAJC12 DNAJC19 DNAJC5 DNM1L DNM2 DOLK DPAGT1 DPM1 DPM2 DPM3 DPYD DPYS DYM EARS2 EBP ECHS1 EDEM3 EHBP1L1 ELAC2 ENO3 EOGT EPG5 EPM2A ETFA ETFB ETFDH ETHE1 EXT1 EXT2 FA2H FAH FARS2 FASTKD2 FBP1 FBXL4 FDX2 FDXR FECH FGFR2 FH FKRP FKTN FLAD1 FMO3 FOLR1 FOXRED1 FTCD FUCA1 FUT8 FXN G6PC G6PC3 GAA GABRG2 GALC GALE GALK1 GALM GALNS GALNT2 GALNT3 GALT GAMT GARS GATM GBA GBE1 GCDH GCH1 GCLC GCSH GDAP1 GFER GFM1 GFM2 GFPT1 GIF GK GLA GLB1 GLDC GLRA1 GLRX5 GLS GLUD1 GLUL GLYCTK GM2A GMPPA GMPPB GNE GNMT GNPAT GNPTAB GNPTG GNS GORAB GPD1 GPHN GPIHBP1 GRHPR GRN GSS GTPBP3 GUSB GYG1 GYS1 GYS2 HAAO HADH HADHA HADHB HAMP HARS2 HCCS HCFC1 HEXA HEXB HFE HFE2 HGD HGSNAT HIBCH HLCS HMBS HMGCL HMGCS2 HOGA1 HPD HPRT1 HPS1 HS2ST1 HSD17B10 HSD17B4 HSD3B7 HSPA9 HSPD1 HTRA2 HYAL1 IARS2 IBA57 IDH2 IDS IDUA IER3IP1 ISCA1 ISCA2 ISCU ISPD ITPA IVD KARS KYNU L2HGDH LAMP2 LARGE1 LARS LARS2 LBR LCAT LCT LDHA LDLR LDLRAP1 LETM1 LIAS LIPA LIPT1 LIPT2 LMBRD1 LMF1 LONP1 LPIN1 LPL LRPPRC LYRM4 LYRM7 MAGT1 MAN1B1 MAN2B1 MANBA MAOA MARS2 MAT1A MCCC1 MCCC2 MCEE MCOLN1 MDH2 MECR MFF MFN2 MFSD8 MGAT2 MGME1 MICU1 MIPEP MLYCD MMAA MMAB MMACHC MMADHC MOCS1 MOCS2 MOGS MPC1 MPDU1 MPI MPV17 MRM2 MRPL3 MRPL44 MRPS2 MRPS22 MRPS34 MSMO1 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MTFMT MTHFR MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTO1 MTPAP MTR MT-RNR1 MTRR 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 MTTP MT-TP MT-TQ MT-TR MT-TS1 MT-TS2 MT-TV MT-TW MT-TY MUT MVK NADK2 NAGA NAGLU NAGS NARS2 NAXD NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NFS1 NFU1 NGLY1 NHLRC1 NNT NPC1 NPC2 NSDHL NSUN3 NT5C3A NUBPL NUS1 OAT OCRL OGDH OPA1 OPA3 OTC OXCT1 PAH PANK2 PARS2 PC PCBD1 PCCA PCCB PCK1 PCSK9 PDHA1 PDHB PDHX PDK3 PDP1 PDSS1 PDSS2 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PGAM2 PGAP2 PGAP3 PGK1 PGM1 PGM3 PHGDH PHKA1 PHKA2 PHKB PHKG2 PHYH PIGA PIGL PIGM PIGN PIGO PIGS PIGT PIGV PINK1 PLA2G6 PMM2 PMPCA PMPCB PNP PNPLA2 PNPLA8 PNPO PNPT1 POLG POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PPA2 PPOX PPT1 PRKAG2 PRODH PRPS1 PSAP PSAT1 PTCD3 PTS PUS1 PYCR1 PYGL PYGM QDPR QRSL1 RARS2 RBCK1 RBP4 RFT1 RMND1 RNASEH1 RPIA RPL10 RRM2B RTN4IP1 SACS SAMHD1 SAR1B SARS2 SC5D SCO1 SCO2 SCP2 SDHA SDHAF1 SDHB SDHD SEC23B SERAC1 SETX SFXN4 SGSH SHMT2 SI SKIV2L SLC12A3 SLC16A1 SLC17A5 SLC18A2 SLC19A2 SLC19A3 SLC22A5 SLC25A1 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A26 SLC25A3 SLC25A32 SLC25A38 SLC25A4 SLC25A42 SLC25A46 SLC2A1 SLC2A2 SLC30A10 SLC35A1 SLC35A2 SLC35C1 SLC35D1 SLC37A4 SLC39A14 SLC39A4 SLC39A8 SLC3A1 SLC40A1 SLC46A1 SLC52A2 SLC52A3 SLC5A1 SLC5A6 SLC6A19 SLC6A3 SLC6A8 SLC7A7 SLC7A9 SMPD1 SPG7 SPR SPTLC1 SPTLC2 SRD5A3 SSBP1 SSR4 ST3GAL3 ST3GAL5 STS STT3A SUCLA2 SUCLG1 SUMF1 SUOX SURF1 TACO1 TALDO1 TANGO2 TARS2 TAT TAZ TCN2 TFAM TFR2 TH TIMM50 TIMM8A TIMMDC1 TK2 TMEM126B TMEM165 TMEM199 TMEM5 TMEM70 TOP3A TPK1 TPP1 TRAP1 TREX1 TRIM37 TRIT1 TRMT10C TRMT5 TRMU TRNT1 TRPM6 TSFM TTC19 TTC37 TTPA TUFM TUSC3 TWNK TYMP UGT1A1 UMOD UMPS UPB1 UQCC2 UQCRB UQCRC2 UQCRFS1 UROD UROS VARS2 VIPAS39 VKORC1 VPS16 VPS33A VPS33B WARS2 WDR45 WFS1 XDH XPNPEP3 XYLT1 XYLT2 YARS2
Genética Médica
Painel de Erros Inatos do Metabolismo e demais Doenças Tratáveis
Nesta análise, utilizando a técnica de NGS, realizamos o sequenciamento de DNA das regiões que codificam proteínas (éxons) e das regiões circundantes relevantes aos éxons (regiões flanqueadoras) de 748 genes associados aos Erros Inatos do Metabolismo.
Preparo para coleta:
Realizar a higiene bucal e coletar após 30 minutos de jejum.
Instruções de coleta:
* Higienize as mãos;
* Retire cuidadosamente o swab coletor da embalagem;
* Certifique-se de que a ponta do swab não entre em contato com nenhuma superfície
* Inserir o Swab na parte interna da bochecha e esfregue com movimentos para cima e para baixo, aproximadamente 10x de cada lado das bochechas;
Evite tocar os dentes e língua.
* Coloque o swab dentro do tubo e feche bem a tampa;
* Coloque o tubo de coleta na embalagem plástica e guarde-o na caixa junto com a ficha de registro;
* Lacrar a caixa!