Somatic mosaic variants have been uncovered as important drivers and modifiers of immune deficiencies and immune dysregulation in the scientific literature of the last years. They may be present in blood with frequencies of only 5 % or even lower, and therefore often escape detection in standard next-generation sequencing panels, exome enrichments, and especially genome enrichments. Our high-coverage enrichment Deep Immunogenetics (DIG) is a diagnostic tool for the targeted identification of somatic mosaic sequence variants in immune disorders.
The Deep Immunogenetics enrichment contains 337 genes, that are covered with approximately 750-1000X reads per base. The high coverage enables a detection limit for mosaic sequence variants of ≥5% of the sequenced reads, and ≥2% for variants in known hotspots. All genes of the enrichment are sequenced in parallel, and the genes associated with the patient’s phenotype are interpreted. Below you will find our pre-designed gene sets as well as a list of all genes of the enrichment.
We offer gene sets for autoimmune-lymphoproliferative and autoinflammatory diseases. It is also possible to compile your own set of genes for individual diagnostic questions after consultation.
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What We Offer with the Panel for Deep Immunogenetics
Our Promise to You
Your Benefits
It is possible to request single or multiple predefined gene sets. In addition to the complete analysis of the genes of the requested gene set, we extend the analysis by additional genes for differential diagnosis. We report variants of unknown significance (ACMG class 3) and pathogenic and probably pathogenic variants (ACMG classes 4 and 5) for the primarily ordered gene set. For the genes included due to differential diagnosis, we restrict the reporting to pathogenic and probably pathogenic variants (ACMG classes 4 and 5), which could be related to the indication of the person seeking advice.
Method
The enrichment of the coding regions and the adjacent intronic regions is performed using an in-solution hybridization technology. The selection of the targeted regions and the design of the enrichment baits is performed in-house. High-throughput sequencing is performed on our Illumina platforms. Bioinformatic processing of the data is achieved using an in-house computer cluster.
Following data processing, our team of scientists and specialists in human genetics analyze the data and issue a medical report.
General Information
Material
- 1-2 ml EDTA blood (recommended sample type) or
- 1-2 µg genomic DNA
- Order Form with declaration of consent
Here you can find more information on how to ship your sample safely.
Costs
The prices for our human genetic diagnostics depend on the size of the selected diagnostic panel and the selected gene sets. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.
Gene Sets – Deep Immunogenetics
We recommend the high-coverage Deep Immunogenetics enrichment as a second-tier analysis after exome or panel diagnostics.
Optional Step 1: Exome Enrichment
Abnormal Lymphoproliferation (29 Genes, AID05)
EBV susceptibility with lymphoproliferation / ALPS
CARMIL2, CASP10, CASP8, CD27, CD70, CORO1A, CTPS1, FADD, FAS, FASLG, IL2RA, IL2RB, ITK, KRAS, LAT, LRBA, MAGT1, NFKB1, NRAS, PIK3CD, PIK3R1, PRKCD, RASGRP1, SH2D1A, STAT3, STK4, TET2, TNFRSF9, XIAP
Periodic Fever Syndromes with/without Urticaria (9 Genes, AID01)
ELANE, MEFV, MVK, NLRP12, NLRP3, NOD2, OTULIN, PSTPIP1, TNFRSF1A
Further Autoinflammatory Disorders without Type I
Interferonopathies (35 Genes, AID02)
Incl. inflammation of the skin, joints and bones, vasculitis
ADA2, ADAM17, AP1S3, ARPC1B, CARD11, CARD14, COPA, DPP9, ELF4, HAVCR2, HCK, IL1RN, IL36RN, LPIN2, LYN, NCKAP1L, NFKB1, NLRC4, NLRP1, NOD2, OTULIN, PLCG2, POMP, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, RELA, RIPK1, SLC29A3, SYK, TNFAIP3
Further gene sets can be found on the order forms for immune disorders and blood disorders.
Step 2: Deep Immunogenetics Enrichment
Lymphoproliferation and Autoimmunity (47 Genes, DIG01)
ADA2, CARD11, CARMIL2, CASP10, CASP8, CBLB, CCL22, CD27, CD70, CDC42, CTLA4, CTPS1, DEF6, FADD, FAS, FASLG, HAVCR2, IKZF1, IKZF3, IL2RA, IL2RB, ITK, JAK2, JAK3, KRAS, LAT, LRBA, MAGT1, NCKAP1L, NFKB1, NRAS, PIK3CD, PIK3R1, PRKCD, PTEN, PTPN11, RASGRP1, SH2D1A, SOCS1, STAT1, STAT3, STAT5B, STK4, TET2, TNFRSF9, XIAP, ZAP70
Autoinflammation (60 Genes, DIG02)
ADA2, AP3B1, BACH2, CARD11, CARD14, CDC42, CEBPE, COPA, CTLA4, GATA2, HAVCR2, HCK, IFIH1, IL6ST, JAK1, LYN, LYST, NCKAP1L, NFKB1, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OAS1, PDGFRA, PDGFRB, PIK3CG, PLCG1, PLCG2, POMP, PRF1, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, RAB27A, RC3H1, RELA, RIPK1, SLC7A7, SOCS1, STAT1, STAT2, STAT4, STAT6, STING1, STX11, STXBP2, SYK, TLR8, TNFAIP3, TNFRSF1A, TREX1, UBA1, UNC13D, XIAP
Gene Directory – Panel for Deep Immunogenetics
ABL1, ACD, ADA, ADA2, AK2, AP3B1, ARID1A, ASXL1, ASXL2, ATM, ATR, ATRX, B2M, BACH2, BCL10, BCL11B, BCL2, BCOR, BCORL1, BIRC3, BLM, BRAF, BRCA1, BRCA2, BRCC3, BRIP1, BTK, CALR, CARD11, CARD14, CARMIL2, CASP10, CASP8, CBL, CBLB, CBLC, CCL22, CCND1, CD247, CD27, CD28, CD3D, CD3E, CD3G, CD48, CD70, CD79B, CD8A, CDC42, CDKN2A, CEBPA, CEBPE, CHD7, CIITA, COPA, COPG1, CREBBP, CSF1R, CSF3R, CSNK1A1, CTC1, CTCF, CTLA4, CTPS1, CUX1, CXCR4, CYBA, CYBB, CYBC1, DCLRE1C, DDX41, DEF6, DIS3, DKC1, DNAJC21, DNMT3A, DOCK2, DUT, EFL1, EGR1, EP300, ERBIN, ERCC4, ERCC6L2, ETNK1, ETV6, EXOC3L2, EZH2, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FASLG, FBXW7, FCHO1, FERMT1, FLT3, FOXI3, FOXN1, FOXO1, FYN, G6PD, GATA1, GATA2, GNAS, GNB1, GRHL2, HAVCR2, HCK, HRAS, ICOS, ID3, IDH1, IDH2, IFIH1, IKBKB, IKZF1, IKZF3, IL21R, IL2RA, IL2RB, IL2RG, IL6R, IL6ST, IL7R, IRF4, ITK, JAK1, JAK2, JAK3, KDM6A, KIT, KLF2, KLHL6, KMT2A, KMT2D, KRAS, LAT, LCK, LCP2, LIG1, LIG4, LIPA, LRBA, LYN, LYST, MAD2L2, MAGT1, MALT1, MAP2K1, MAP3K14, MECOM, MEF2B, MPL, MPO, MSN, MTHFD1, MTR, MYC, MYD88, MYSM1, NBN, NCF1, NCF2, NCF4, NCKAP1L, NF1, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NOTCH1, NOTCH2, NPM1, NRAS, OAS1, ORAI1, PALB2, PARN, PAX1, PAX5, PDGFRA, PDGFRB, PGM3, PHF6, PIGA, PIK3CD, PIK3CG, PIK3R1, PLCG1, PLCG2, PNP, POMP, POT1, PPM1D, PRF1, PRKCD, PRKDC, PRPF40B, PRPF8, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTEN, PTPN11, PTPRC, RAB27A, RAC2, RAD21, RAD51, RAD51C, RAF1, RAG1, RAG2, RASGRP1, RBM8A, RBSN, RC3H1, RECQL4, RELA, RELB, RFWD3, RFX5, RFXANK, RFXAP, RHOA, RIPK1, RMRP, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RPSA, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SETBP1, SF1, SF3A1, SF3B1, SGK1, SH2B3, SH2D1A, SLC19A2, SLC46A1, SLC7A7, SLX4, SMC1A, SMC3, SOCS1, SRP54, SRP72, SRSF2, STAG2,STAT1, STAT2, STAT3, STAT4, STAT5B, STAT6, STIM1, STING1, STK4, STX11, STXBP2, SUZ12, SYK, TAP1, TAP2, TAPBP, TBX1, TCN2, TERC, TERT, TET2, TFRC, THPO, TINF2, TLR8, TNFAIP3, TNFRSF1A, TNFRSF9, TP53, TREX1, TSR2, U2AF1, U2AF2, UBA1, UBE2T, UBR5, UNC13D, USB1, VAV1, WAS, WIPF1, WRAP53, WT1, XIAP, XPO1, XRCC2, ZAP70, ZCCHC8, ZEB2, ZRSR2
The Deep Immunogenetics enrichment comprises 337 genes. Please contact us if you are interested in an individual selection of the genes listed.
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