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Doenças Metabólicas

NGS, com CNVs

34900

–

502

ABCD4, ACD, ACKR1, ACP5, ACTB, ADA, ADA2, ADAM17, ADAR, AGA, AICDA, AIRE, AK2, ALG1, ALG12, ALPI, AMT, AP1S3, AP3B1, AP3D1, APOL1, ARHGEF1, ARPC1B, ATG4A, ATM, ATP6AP1, AUH, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRAF, BRCA1, BRCA2, BRIP1, BTK, C17orf62, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPA, CEBPE, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD7, CHUK, CIB1, CIITA, CLCN7, CLPB, COG4, COPA, CORO1A, CR2, CREBBP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTNNBL1, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, DBR1, DCLRE1B, DCLRE1C, DEF6, DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNM2, DNMT3B, DOCK2, DOCK8, DSG1, EFL1, ELANE, EP300, EPG5, ERBIN, ERCC4, ETV6, EXTL3, FAAP24, FADD, FAM111A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FBXL4, FCGR3A, FCHO1, FCN3, FDX2, FERMT1, FERMT3, FH, FIBP, FMO3, FNIP1, FOXN1, FOXP3, FPR1, FUT8, G6PC1, G6PC3, G6PD, GATA1, GATA2, GCSH, GFI1, GINS1, GLDC, GSS, GTF2H5, HAVCR2, HAX1, HELLS, HMOX1, HPS5, HTRA2, HUWE1, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL18BP, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, IRAK1, IRAK4, IREB2, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, IVD, JAGN1, JAK1, JAK3, KDM6A, KMT2A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LCP2, LEF1, LIG1, LIG4, LMBRD1, LPIN2, LRBA, LSM11, LYST, MAD2L2, MAGT1, MALT1, MAP3K14, MAPK8, MASP2, MCM10, MCM4, MDM4, MECOM, MEFV, MKL1, MLH1, MMAA, MMAB, MMACHC, MOGS, MPL, MRE11, MRTFA, MS4A1, MSH6, MSN, MTHFD1, MTR, MUT, MVK, MYD88, MYSM1, NBAS, NBN, NCF2, NCF4, NCKAP1L, NCSTN, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC3, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NOD2, NOP10, NOS2, NRAS, NSMCE3, OAS1, OPA3, ORAI1, OSTM1, OTULIN, PACS2, PALB2, PARN, PAX1, PCCA, PCCB, PEPD, PGM3, PIK3CD, PIK3CG, PIK3R1, PLCG2, PLEKHM1, PMM2, PMS2, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, PRDM5, PRDX1, PRF1, PRKCD, PRKDC, PSEN1, PSENEN, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTEN, PTPRC, RAB27A, RAC2, RAD51, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, REL, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RORC, RPL11, RPL18, RPL26, RPL5, RPS14, RPS19, RPS7, RPSA, RTEL1, RUNX1, SAMD9, SAMD9L, SAMHD1, SBDS, SEC61A1, SEMA3E, SERPING1, SH2D1A, SH3BP2, SH3KBP1, SKIV2L, SLC19A2, SLC29A3, SLC33A1, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC46A1, SLC7A7, SLX4, SMARCAL1, SMARCD2, SNX10, SOCS1, SP110, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT5B, STIM1, STK11, STK4, STN1, STX11, STXBP2, TAFAZZIN, TALDO1, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TBX21, TCF3, TCIRG1, TCN2, TDP2, TERT, TET2, TFR2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, THG1L, TICAM1, TINF2, TIRAP, TLR3, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TNFSF13, TONSL, TOP2B, TP53, TPP1, TPP2, TRAF3, TRAF3IP2, TREX1, TRIM22, TRNT1, TTC37, TTC7A, TYK2, UBA1, UBE2T, UGT1A1, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS33A, VPS45, WAS, WDR1, WFS1, WIPF1, WRAP53, XIAP, XRCC2, ZAP70, ZBTB24, ZNF341

2 a 3 meses

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
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Para outros tipos de amostra, por favor contacte o laboratório.