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Genes: ACP5, ADAM17, ADAR, AP1S3, CARD14, ADA2, COPA, DNASE2, IFIH1, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PLCG2, POLA1, PSMB8*, PSTPIP1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SH3BP2, SLC29A3, TMEM173, TNFAIP3, TNFRSF1A, TREX1, USP18
Genes: C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C4BPA, C5, C6, C7, C8A, C8B, C8G, C9, CD46, CD55, CD59, CFB, CFD, CFH, CFHR1, CFI, CFP, FCN3, MASP2, SERPING1, THBD
Intrinsic/innate immune defects
Genes: APOL1, CARD9, CLCN7, CXCR4, CYBB, FCGR3A, HMOX1, IFIH1, IFNAR2, IFNGR1, IFNGR2, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IRAK1, IRAK4, IRF3, IRF7, IRF8, ISG15, JAK1, MYD88, NBAS, NCSTN, OSTM1, PLEKHM1, PSEN1, PSENEN, RANBP2, RORC, RPSA, SNX10, STAT1, STAT2, TBK1, TCIRG1, TICAM1, TIRAP, TLR3, TMC6, TMC8, TNFRSF11A, TNFSF11, TRAF3, TRAF3IP2, TYK2, UNC93B1
Defects of phagocyte number and function
Genes: ACTB, CEBPE, CFTR, CLPB, CSF2RA, CSF2RB, CSF3R, CTSC, CYBA, CYBB, DNAJC21, ELANE, FERMT3, FPR1, G6PC3, G6PD, SLC37A4, GATA2, GFI1, HAX1, HYOU1, ITGB2, JAGN1, LAMTOR2, MKL1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SMARCD2, SRP54, TAZ, USB1, VPS13B, VPS45, WAS, WDR1
Genes: AIRE, AP3B1, AP3D1, BACH2, CASP10, CASP8, CD27, CD70, CTLA4, CTPS1, DNASE1L3, FAAP24, FADD, FASLG, FOXP3, IL10, IL10RA, IL10RB, IL2RA, ITCH, ITK, JAK1, LRBA, LYST, MAGT1, NFAT5, PEPD, PRF1, PRKCD, RAB27A, RASGRP1, CARMIL2, SH2D1A, STAT3, STX11, STXBP2, FAS, TPP2, UNC13D, XIAP, ZAP70
Genes: AICDA, ATP6AP1, BLNK, BTK, CARD11, CD19, CD79A, CD79B, CD81, CR2, IGLL1, IKZF1, INO80, IRF2BP2, MOGS, MS4A1, MSH6, NFKB1, NFKB2, PIK3CD, PIK3R1, PTEN, TCF3, TNFRSF13B, TNFRSF13C, TNFSF12, TRNT1, TTC37, UNG
Genes: ARPC1B, ATM, CARD11, CCBE1, CDCA7, CHD7, CTC1, DCLRE1B, DKC1, DNMT3B, EPG5, ERCC6L2, EXTL3, FAT4, FOXN1, GINS1, HELLS, RBCK1, RNF31, NFKBIA, KDM6A, KMT2D, LIG1, MCM4, MRE11, MTHFD1, MUS81, MYSM1, NBN, IKBKG, NHP2, NOP10, NSMCE2, NSMCE3, ORAI1, PARN, PGM3, PMS2, PNP, POLA1, POLE, POLE2, RAD50, BLM, RECQL4, RMRP, RNF168, RNU4ATAC, RTEL1, SAMD9, SAMD9L, SEMA3E, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STN1, TBX1, TCN2, TERC, TERT, TINF2, TPP1, TTC7A, WAS, WIPF1, WRAP53, ZBTB24
Genes: ADA, AK2, B2M, BCL10, BCL11B, CARD11, CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CIITA, CORO1A, DCLRE1C, DOCK2, DOCK8, ICOS, IKBKB, IL21, IL21R, IL2RG, IL7R, JAK3, LAT, LCK, LIG4, MALT1, MAP3K14, MSN, NHEJ1, PRKDC, PTPRC, RAG1, RAG2, RELB, RFX5, RFXANK, RFXAP, RHOH, STK4, TAP1, TAP2, TAPBP, TFRC, TNFRSF4, ZAP70
DNA extraction (if applicable) and ultrasonic fragmentation; targeted capture of the coding regions and intron/exon boundaries of protein coding RefSeq genes using the Agilent Clinical Research Exome kit; next generation sequencing (NGS) on an Illumina HiSeq 2500 instrument; alignment to the human reference genome (GRCh37/hg19) using the Burrows-Wheeler Aligner (bwa); variant calling using GATK; Sanger sequencing to confirm low quality and/or complex indel variants related to the specified phenotype(s); Review of sequence data for the specified genes by multiple staff members; Variant classification following ACMG criteria (if applicable). Bioinformatic analysis was performed using DDL pipeline DDL.CRExome.v1.2018_04_18.
Discrimination between multiple heritable disorders that can cause renal disease; identification of causative variants in complex cases that span multiple phenotypes; facilitation of targeted carrier or presymptomatic testing of relatives of proband and/or predictive prenatal testing
The detection rate for the ImmunoZoom panel is undetermined at this point, due to ongoing research in the field.
> 99% for single nucleotide and >92% for small insertion/deletion variants for the nucleotides evaluated. Lower limit of detection: Single nucleotide variants: 25% allele frequency (>96% sensitivity), Small insertion/deletion variants: 50% allele frequency (>94% sensitivity). This test is not validated to identify deletions/insertions of greater than 20bp, copy number changes, nucleotide repeat expansions, mitochondrial DNA variants or mosaicism. Disease-associated variants in regions that are not captured and/or sufficiently sequenced will not be detected by this assay.
3-6ml whole blood in EDTA (purple topped) tubes
Saliva collected in an appropriate collection device (Oragene®-DNA 500 or 600 device)
DNA extracted from fibroblast or lymphocyte cell line (must be extracted in a CLIA-certified laboratory)
Turn Around Time
Fee and CPT Codes
Exome Panel: $2915
CPT Code: 81479
*If you are a provider outside of Johns Hopkins we are only accepting institutional billing