NeoPainel para Immunodeficiencies Primárias e Doenças Inflamatórias

Catalog information

Technical data of NeoPainel para Immunodeficiencies Primárias e Doenças Inflamatórias

Investigação genetics de Immunodeficiencies Primárias e Doenças Inflamatórias por NeoPainel, com análise direcionada baseada em exoma.

Applications

Rare and hereditary diseases

Accepted samples

peripheral blood (preferred), Mouth swab, DNA extraído

Estimated deadline

Tradicional · 30 calendar days, contados após sample acceptance.

Rápido · 15 calendar days, contados após sample acceptance.

Base method

Exome

Analytical scope

Analysis dos genes listados conforme a base exômica e os critérios técnicos validados pelo laboratório.

Genes analyzed

583 genes registered in the structured scope of the test.

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A2ML1, ABCD4, ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAMTS3, ADAR, ADNP, AGA, AICDA, AIRE, AK2, ALG1, ALG12, ALPI, ALPK1, ANGPT1, AP1S3, AP3B1, AP3D1, APOL1, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S3, BLOC1S6, BRCA1, BRCA2, BRIP1, BTK, BUB1B, C1QA, C1QB, C1QC, C1R, C1S, C8A, C8B, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CCBE1, CCDC39, CCDC40, CCNO, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CDK9, CDSN, CEBPE, CFAP298, CFAP300, CFAP418, CFB, CFD, CFH, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHAMP1, CHD1, CHD7, CIB1, CIITA, CLCN7, CLEC7A, CLPB, CNBP, COG6, COG7, COLEC11, COPA, CORO1A, CPN1, CR2, CREBBP, CRIPT, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1B, DCLRE1C, DEAF1, DEF6, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC21, DNAL1, DNASE1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DRC1, DRC2, DRC4, DSG1, DTNBP1, EFL1, EGFR, ELANE, ELF4, ELP1, EPCAM, EPG5, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ETV6, EXTL3, F12, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FBXL4, FCGR2A, FCGR3A, FCGRT, FCHO1, FCN3, FERMT3, FMO3, FNIP1, FOXI3, FOXN1, FOXP3, FPR1, FPR2, G6PC3, G6PD, GAD1, GALNS, GAS2L2, GATA1, GATA2, GFI1, GINS1, GSS, GTF2H5, GUCY2C, HAVCR2, HAX1, HCK, HELLS, HGSNAT, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HTR1A, HTRA2, HYDIN, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17A, IL17F, IL17RA, IL17RC, IL18, IL18BP, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, INO80, IRAK1, IRAK4, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGAM, ITGB2, ITK, IVD, IVNS1ABP, JAGN1, JAK1, JAK3, KDM6A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LEP, LIG1, LIG4, LPIN2, LRBA, LRRC56, LRRC8A, LYN, LYST, MAD2L2, MAGT1, MALT1, MAN2B1, MANBA, MAP3K14, MASP1, MASP2, MBL2, MC2R, MCIDAS, MCM4, MEFV, MGP, MMAA, MMAB, MMACHC, MMUT, MOGS, MPI, MPL, MPO, MRE11, MRTFA, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYO5B, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFASC, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NGF, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NLRP7, NME8, NOD2, NOP10, NRAS, NSMCE3, OAS1, ODAD1, ODAD2, ODAD3, ODAD4, ORAI1, OSTM1, OTULIN, OXCT1, PALB2, PARN, PAX1, PCCA, PCCB, PEPD, PGM3, PI4KA, PIK3CD, PIK3R1, PLCG2, PLEKHM1, PLG, PLVAP, PMM2, PMS2, PNP, POLA1, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3C, POLR3F, POMP, PPP1R21, PRF1, PRKCD, PRKDC, PSEN1, PSENEN, PSMA3, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTPRC, RAB27A, RAC2, RAD50, RAD51, RAD51C, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RBM8A, RECQL4, REL, RELA, RELB, RET, RFWD3, RFX5, RFXANK, RFXAP, RHOG, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF168, RNF31, RORC, RPL11, RPL15, RPL18, RPL19, RPL26, RPL31, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, RPSA, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SAMD9, SAMD9L, SAMHD1, SART3, SBDS, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEMA3E, SERAC1, SERPING1, SGPL1, SH2D1A, SH3BP2, SH3KBP1, SKIC2, SKIC3, SLC29A3, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC39A8, SLC46A1, SLK, SLX4, SMARCAL1, SMARCD2, SNAI2, SNX10, SP110, SPAG1, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STING1, STK36, STK4, STN1, STX11, STXBP2, TAFAZZIN, TALDO1, TAP1, TAP2, TAPBP, TBCE, TBK1, TBX1, TBXAS1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, TGFB1, TGFB3, TGFBR1, THBD, TICAM1, TINF2, TIRAP, TLR3, TLR7, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TONSL, TOP2B, TPI1, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRNT1, TRPS1, TSR2, TTC12, TTC7A, TYK2, UBE2T, UMPS, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VIPAS39, VPS13B, VPS33B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, XRCC2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341

Medical request

Required