Primary immune deficiencies

Test Information
Test Name Primary immune deficiencies
Lab (Location) Newborn Screening Ontario
Category Immunity
Subcategory Primary immune deficiencies
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
Test type Gene Panel
Samples Accepted Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology Sequencing
Methodology Notes Augmented exome backbone
Diseases/Conditions Primary immune deficiencies