Genetic Test Details
Primary immune deficiencies
Test Information
- Titre
- Primary immune deficiencies
- Catégorie
- Immunity
- Sub Category
- 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
- DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Methodology Notes
- Augmented exome backbone
- Disease/Condition
- Primary immune deficiencies
Dernière Mise à Jour: 18 juin 2025