Doenças Metabólicas

NGS, com CNVs

34900

–

430

ACD, ACP5, ADA, ADA2, ADAM17, ADAR, AGR2, AICDA, AIRE, AK2, ALPI, ALPK1, ANGPT1, ANKZF1, AP1S3, AP3B1, AP3D1, ARPC1B, ARPC5, ATAD3A, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S6, BTK, C17orf62, C1QA, C1QB, C1QC, C1R, C1S, C2, C2orf69, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CBLB, CCBE1, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLPB, COL7A1, COPA, CORO1A, CR2, CREBBP, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, DBR1, DCLRE1B, DCLRE1C, DEF6, DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK11, DOCK2, DOCK8, DUT, EFL1, ELANE, ELF4, EP300, EPG5, ERBIN, ERCC6L2, EXTL3, F12, FADD, FAS, FASLG, FAT4, FCGR3A, FCHO1, FERMT1, FERMT3, FGL2, FMNL2, FNIP1, FOXI3, FOXN1, FOXP3, FPR1, G6PC3, G6PD, GATA1, GATA2, GFI1, GIMAP5, GINS1, GNAI2, GUCY2C, HAVCR2, HAX1, HELLS, HMOX1, HPS1, HPS4, HPS6, HSPA1L, HTRA2, HYOU1, ICOS, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IKZF2, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL1R1, IL1RN, IL21, IL21R, IL23R, IL27RA, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7, IL7R, INO80, IPO8, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGAV, ITGB2, ITK, ITPKB, ITPR3, IVNS1ABP, JAGN1, JAK1, JAK3, KCNA5, KDM6A, KMT2A, KMT2D, KRAS, LACC1, LAMTOR2, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LYN, LYST, MAGT1, MALT1, MAP3K14, MBL2, MCM4, MCTS1, MECOM, MEFV, MKL1, MOGS, MPEG1, MPO, MSN, MTHFD1, MVK, MYD88, MYO5B, MYSM1, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NPC1, NRAS, NSMCE3, NUDCD3, OAS1, ORAI1, OTULIN, PARN, PAX1, PEPD, PGM3, PI4KA, PIK3CD, PIK3CG, PIK3R1, PLCG2, PLG, PNP, POLA1, POLD1, POLD3, POLE, POLR3A, POLR3C, POMP, PRF1, PRIM1, PRKCD, PRKDC, PSENEN, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSTPIP1, PTCRA, PTEN, PTPN2, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RC3H1, RECQL4, REL, RELA, RELB, RFX5, RFXANK, RFXAP, RHBDF2, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU7-1, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SASH3, SBDS, SCGN, SEC61A1, SERPING1, SGPL1, SH2D1A, SKIV2L, SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLC7A7, SLC9A3, SLCO2A1, SMARCAL1, SMARCD2, SNORA31, SOCS1, SP110, SPI1, SPINK5, SPPL2A, SRP54, STAT1, STAT2, STAT3, STAT4, STAT5B, STAT6, STIM1, STK4, STX11, STXBP2, STXBP3, SYK, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TCF3, TCN2, TERC, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, TICAM1, TINF2, TLR3, TLR7, TLR8, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13C, TNFRSF1A, TNFRSF9, TOP2B, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRIM22, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, XIAP, ZAP70, ZBTB24, ZNF341, ZNFX1, ISCA-37433-Loss, ISCA-37446-Loss

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
–
Para outros tipos de amostra, por favor contacte o laboratório.