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GTD Indications Diagnosis Carrier / Cascade Testing GTD Samples Accepted Blood DNA Dried Blood Spot (accepted ONLY for exceptional circumstances) GTD Test Methodology Sequencing GTD Methodology Notes Augmented exome backbone
Generic Test name (cms title) Primary immune deficiencies GTD Test type Gene Panel GTD Location Newborn Screening Ontario GTD Gene/Platform/Region List ACD, ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1S, C2, C3, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CFD, CFI, CFP, CHD7, CIITA, COPA, CR2, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1C, DKC1, DNASE2, DNMT3B, DOCK2, DOCK8, EBF1, EPG5, ERCC6L2, EXTL3, FADD, FAS, FASLG, FCHO1, FERMT3, FOXN1, FOXP3, G6PD, GATA2, GFI1, GINS1, HELLS, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6ST, IL7R, IRAK4, IRF2BP2, IRF8, ISG15, ITGB2, ITK, JAK1, JAK3, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LRBA, LRRC8A, LYST, MAGT1, MALT1, MAP3K14, MEFV, MRTFA, MOGS, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF2, NCF4, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NRAS, NSMCE3, ORAI1, OTULIN, PARN, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, POLD1, POLE, POLE2, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RORC, RTEL1, SAMHD1, SBDS, SEMA3E, SERPING1, SH2D1A, SLC29A3, SLC35C1, SLC39A7, SLC7A7, SMARCAL1, SP110, SPINK5, SPPL2A, STAT1, STAT2, STAT3, STIM1, STING1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TCF3, TCN2, TERC, TERT, TFRC, TGFB1, TINF2, TMC6, TMC8, TNFAIP3, TNFRSF13B, TNFRSF1A, TNFRSF4, TNFRSF9, TRAC, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNC93B1, UNG, USP18, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24, ZNF341 GTD Category Immunity GTD Disease/Condition Primary immune deficiencies