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