Information
Large panel approach: The panel for genetic immune disorders covers 230 genes. All of these genes are sequenced simultaneously. We interpret all genes associated with the patient’s phenotype, referred to as a gene set.
Maximize diagnostic options: Each gene set can be requested individually or in combination with other gene sets. It’s also possible to select a custom combination of genes (Custom Panel). Click here to view our gene sets.
Extensive medical reporting: The interpretation includes single nucleotide variants (SNVs), small insertions and deletions (INDELs), and copy number variants (CNVs) of single and/or multiple exons. For every gene depicted in the gene sets, we analyse all coding regions as well as all known disease coding intronic variants.
Method
The enrichment of the coding regions and the adjacent intronic regions is performed using a 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 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.
Material and TAT
- 3–5 ml EDTA-Blood or 5 µg genomic DNA
- Order Form with declaration of consent according to German Gendiagnostikgesetz (GenDG)
Turnaround Time: 4–6 weeks
Downloads
Gene Directory
The Panel for Immune Disorders contains the following genes.
- It is possible to select one or multiple predefined gene sets.
- In addition to the full analysis of the requested gene set(s), you may opt to expand the analysis to all genes of the Diagnostic Panel for variants that are pathogenic or likely pathogenic (ACMG class 4 and 5).
- If you would like to order a custom gene set, please contact us. We will support you throughout the ordering process.
Immune Disorders Panel gene directory:
ADA, ADAM17, AICDA, AIRE, AK2, AP3B1, AP3D1, ATP6AP1, BACH2, BCL11B, BLNK, BTK, C19ORF40, C1QA, C1QB, C1QC, C1S, C2, C3, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CASP10, CASP8, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CEBPE, CECR1, CFB, CFD, CFH, CFI, CFP, CFTR, CLEC7A, CLPB, COPA, CORO1A, CR2, CSF3R, CTLA4, CTPS1, CXCR2, CXCR4, CYBA, CYBB, DCLRE1C, DKC1, DNASE1, DNASE1L3, DNASE2, DOCK2, DOCK8, DSG1, EGFR, ELANE, ERBB2IP, FADD, FAS, FASLG, FCN3, FERMT3, FOXN1, FOXP3, G6PC3, G6PD, GATA1, GATA2, GFI1, GINS1, HAX1, HELLS, HSPA1L, IFIH1, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, IRF2BP2, IRF3, IRF8, ISG15, ITGB2, ITK, JAGN1, JAK1, JAK3, KRAS, LAT, LCK, LIG4, LPIN2, LRBA, LRRC8A, LYST, MAGT1, MALT1, MASP2, MEFV, MKL1, MS4A1, MSN, MTHFD1, MVK, NCF1, NCF2, NCF4, NFAT5, NFKB1, NFKB2, NFKBIA, NHEJ1, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, ORAI1, OTULIN, PGM3, PIK3CD, PIK3R1, PLCG2, PNP, POMP, PRF1, PRKCD, PRKDC, PSMA3, PSMB4, PSMB8, PSMB9, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RLTPR, RNASEH2A, RNASEH2B, RNASEH2C, RORC, RTEL1, SAMHD1, SBDS, SERPING1, SH2D1A, SLC29A3, SLC35C1, SMARCD2, SP110, SPINK5, SRP54, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAZ, TBK1, TCF3, TCIRG1, TFRC, TICAM1, TLR3, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF1A, TRAF3, TRAF3IP2, TREX1, TTC7A, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VPS45, WAS, WDR1, XIAP, ZAP70, ZBTB24
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Our dedicated support assists you in choosing most appropriate diagnostic test for your patients.
Gene sets – Primary Immune Disorders
Antibody Deficiency (33 Genes, PID01)
(incl. Hyper-IgM syndrome, common variable immunodeficiency, Agammaglobulinemia)
AICDA, ATP6AP1, BLNK, BTK, CARD11, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, HELLS, IGHM, IGLL1, IKBKB, IKZF1, IL2RG, IRF2BP2, LRBA, LRRC8A, MS4A1, NFKB1, NFKB2, NFKBIA, PIK3CD, PIK3R1, STAT1, TCF3, TNFRSF13B, TNFRSF13C, UNG
Complement Deficiencies (24 Genes, PID02)
(incl. Neisseria infections)
C1QA, C1QB, C1QC, C1S, C2, C3, C5, C6, C7, C8A, C8B, C8G, C9, CD46, CD55, CD59, CFB, CFD, CFH, CFI, CFP, FCN3, MASP2, SERPING1
Autoinflammatory Diseases (37 Genes, PID03)
(incl. Periodic fever syndromes, Autoinflammatory syndromes without fever, Early-onset chronic inflammatory bowel diseases)
ADA, ADAM17, BACH2, CARD14, CECR1, COPA, ELANE, FOXP3, HSPA1L, IL10, IL10RA, IL10RB, IL1RN, IL21, IL21R, IL36RN, LPIN2, LRBA, MEFV, MVK, NFAT5, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PLCG2, PSTPIP1, SLC29A3, TMEM173, TNFAIP3, TNFRSF1A, TTC7A, WDR1, XIAP, ZBTB24
Immune Dysregulation (52 Genes, PID04)
(incl. Hemophagocytic lymphohistiocytosis, (autoimmune-) lymphoproliferative syndrome, Immune Dysregulation with colitis)
ADA, ADAM17, AICDA, AP3B1, AP3D1, BACH2, C19ORF40, CASP10, CASP8, CD27, CD70, CTLA4, CYBA, CYBB, DKC1, EGFR, FADD, FAS, FASLG, FOXP3, G6PD, GATA2, HSPA1L, IL10, IL10RA, IL10RB, IL21, IL21R, IL2RA, ITK, KRAS, LRBA, LYST, MAGT1, NCF1, NCF2, NCF4, PIK3R1, PRF1, PRKCD, RAB27A, RTEL1, SH2D1A, STAT1, STAT3, STX11, STXBP2, TNFAIP3, TTC7A, UNC13D, XIAP, ZBTB24
Defects of Phagocytes (45 Genes, PID05)
(incl. Neutropenia, Mycobacteriosis, Leukocyte adhesion deficiency (LAD), chronic granulomatous disease)
CD40, CD40LG, CEBPE, CFTR, CLPB, CSF3R, CXCR2, CXCR4, CYBA, CYBB, ELANE, FERMT3, G6PC3, G6PD, GATA1, GATA2, GFI1, GINS1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ISG15, ITGB2, JAGN1, MKL1, NCF1, NCF2, NCF4, RAC2, RORC, SBDS, SLC35C1, SMARCD2, SRP54, STAT1, TAZ, TCIRG1, TYK2, USB1, VPS45, WAS, WDR1
Innate Immunity Defects (19 Genes, PID06)
(incl. Chronic mucocutaneous candidiasis, Herpes simplex encephalitis)
AIRE, CARD9, CLEC7A, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IRF3, RANBP2, RORC, STAT1, STAT3, TBK1, TICAM1, TLR3, TRAF3, TRAF3IP2, UNC93B1
Combined Immunodeficiency (52 Genes, PID07)
ADA, AK2, BACH2, BCL11B, CARD11, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CORO1A, CTPS1, DCLRE1C, DOCK2, DOCK8, FOXN1, IKBKB, IL12RB1, IL21, IL21R, IL2RA, IL2RG, IL7R, JAK3, LAT, LCK, LIG4, LRBA, MAGT1, MALT1, MSN, MTHFD1, NFAT5, NHEJ1, ORAI1, PGM3, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RASGRP1, RLTPR, SP110, STIM1, STK4, TFRC, UNC119, ZAP70
Syndromes with Immunodeficiencies (35 Genes, PID08)
(incl. Hyper-IgE syndrome, Chilblain Lupus, Interferonopathy)
C2, C3, DNASE1, DNASE1L3, DNASE2, DOCK8, DSG1, ERBB2IP, FOXP3, IFIH1, IFNGR1, IFNGR2, IRF8, ISG15, JAK1, MEFV, POMP, PRKCD, PSMA3, PSMB4, PSMB8, PSMB9, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SPINK5, STAT1, STAT2, STAT3, STAT5B, TMEM173, TREX1, TYK2, USP18
