Test Menu
Condition
Test Name
Primary immunodeficiency gene panel
Inclusive Genes
ACP5, ACTB, ADA, AGA, AICDA, AIRE, AK2, ALG13, AP3B1, AP4E1, APOL1, ATM, B2M, BLM, BLNK, BLOC1S3, BLOC1S6, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C9, CARD11, CARD9, CASP10, CASP8, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD79A, CD79B, CD81, CD8A, CEBPE, CFB, CFD, CFH, CFHR1, CFHR3, CFHR5, CFI, CFP, CHD7, CIITA, CLEC7A, COLEC11, CORO1A, CR2, CREBBP, CSF2RA, CSF3R, CTSC, CXCR4, CYBA, CYBB, DCLRE1C, DHFR, DKC1, DNMT3B, DOCK8, DTNBP1, ELANE, EPG5, ERCC2, ERCC3, F12, FADD, FAS, FASLG, FCGR1A, FCGR3A, FCN3, FERMT3, FOXN1, FOXP3, G6PC, G6PC3, G6PD, GATA2, GFI1, GJC2, GTF2H5, HAX1, HPS1, HPS3, HPS4, HPS5, HPS6, ICOS, IFNGR1, IFNGR2, IGHG2, IGHM, IGKC, IGLL1, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL1RN, IL2, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, INSR, IRAK4, IRF8, ITCH, ITGB2, ITK, JAK2, JAK3, KMT2D, KRAS, LAMTOR2, LCK, LIG1, LIG4, LPIN2, LRBA, LRRC8A, LYST, MAGT1, MALT1, MAN2B1, MANBA, MASP1, MASP2, MBL2, MC2R, MCM4, MEFV, MLPH, MPO, MRE11A, MS4A1, MSH6, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF1, NCF2, NCF4, NCSTN, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NKX2-5, NLRP12, NLRP3, NOD2, NOP10, NRAS, ORAI1, PCCA, PCCB, PEPD, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PMS2, PNP, PRF1, PRKCD, PRKDC, PRPS1, PSENEN, PSMB8, PSTPIP1, PTPN11, PTPRC, PTRF, RAB27A, RAC2, RAG1, RAG2, RASGRP2, RBCK1, RECQL4, RFX5, RFXANK, RFXAP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RORC, RPSA, RTEL1, SAMHD1, SBDS, SERAC1, SERPING1, SH2D1A, SKIV2L, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC46A1, SMARCAL1, SP110, SPINK5, STAT1, STAT2, STAT3, STAT4, STAT5B, STIM1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TAZ, TBX1, TCIRG1, TCN2, TERT, TFRC, THBD, TICAM1, TINF2, TLR3, TMC6, TMC8, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TRAC, TRAF3, TREX1, TTC37, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24
Specimen Type
Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid/ Dried Blood Spots (FTA Cards)/ Product of Conception (POC)