CID10: D84
Especialidade: Imunologia, Genética
PIMUD2 - PAINEL PARA ESTUDO DE IMUNODEFICIÊNCIAS 2
Material
SANGUE TOTAL OU SWAB BUCAL
Meio(s) de Coleta
Sangue: Tubo com EDTA (roxo) Swab bucal: Kit coletor específico
Prazo
30 dias úteis
Realização
Segunda a sexta-feira
Volume Mínimo
4 mL
Método
SEQUENCIAMENTO DE NOVA GERAÇÃO (NGS) E CNV
FORMULÁRIO OBRIGATÓRIO
RQ-0596 TERMO DE CONSENTIMENTO LIVRE E ESCLARECIDO PARA TESTE GENÉTICO
FORMULÁRIO OBRIGATÓRIO
RQ-0697 QUESTIONÁRIO - EXAMES GENÉTICOS
Interpretação
Doenças Relacionadas
Imunodeficiências
Genes analisados
ACP5NM_001111034, ACTB, ACTN1, ADA, ADAM17, AICDA, AIRE, AK2, AP1S3, AP3B1, AP3D1, APOL1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C4BPA, C4BPB, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CEBPE, CECR1, CFB, CFD, CFH, CFHR5, CFI, CFP, CFTR, CHD7, CIITA, CLCN7, CLEC16A, CLEC7A, CLPB, COLEC11, COPA, CORO1A, CPT2, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DBR1, DCLRE1C, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK11, DOCK2, DOCK8, ELANE, ELF4, EPG5, ERCC6L2, EXTL3, F12, FAAP24, FADD, FAS, FASLG, FAT4, FCGR1A, FCGR3A, FCN3, FERMT3, FOXN1, FOXP3, FPR1, G6PC, G6PC3, G6PD, GATA2, GFI1, GIMAP6, GINS1, HAVCR2, HAX1, HELLS, HYOU1, ICOS, IFIH1, IFNAR2, IFNG, IFNGR1, IFNGR2, IGFBP5, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL7R, INO80, IRAK1, IRAK4, IRF2BP2, IRF3, IRF7, IRF8, ISG15, ITCH, ITGB2, ITK, JAGN1, JAK1, JAK3, KDM6A, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LRRC8A, LYST, MAGT1, MALT1, MAP3K14, MAPK8, MASP1, MASP2, MBL2, MCM4, MEFV, MIR1243, MKL1, MLPH, MPO, MS4A1, MSH6, MSN, MTHFD1, MVK, MYD88, MYO5A, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCSTN, NFAT5, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NRAS, NSMCE3, OAS1, ORAI1, OSTM1, OTULIN, PARN, PAX1, PEPD, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PLEKHM1, PNP, POLA1, POLE, POLE2, POLR3A, POLR3C, PRF1, PRKCD, PRKDC, PSENEN, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RASGRP2, RBCK1, RECQL4, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RLTPR, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SEMA3E, SERPING1, SH2D1A, SH3BP2, SHARPIN, SLC29A3, SLC35C1, SLC37A4, SLC46A1, SMARCAL1, SNX10, SP110, SPINK5, SRP54, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK4, STX11, STXBP2, STXBP3, TANK, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TFRC, THBD, TICAM1, TINF2, TIRAP, TLR3, TLR7, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFSF11, TNFSF12, TNFSF13, TPP1, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC119, UNC13D, UNG, USB1, USP18, VAV1, VAV2, VPREB1, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24.
