Information
Large panel approach: The panel for genetic immune disorders covers 322 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, TAT & Costs
- 1-2 ml EDTA blood or 1-2 µg genomic DNA
- Order Form with declaration of consent according to German Genetic Diagnosis Act (GenDG)
Turnaround Time: 4–6 weeks
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.
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, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AP1S3, AP3B1, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLNK, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCN6, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD48, CD55, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CHUK, CIB1, CIITA, CLEC7A, CLPB, CR2, CSF3R, CTLA4, CTPS1, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1C, DEF6, DNAJC21, DNASE1, DNASE1L3, DNMT3B, DOCK2, DOCK8, DSG1, EFL1, EGFR, ELANE, EPCAM, EPG5, ERBIN, FADD, FAS, FASLG, FCHO1, FCN3, FERMT3, FOXI3, FOXN1, FOXP3, G6PC3, G6PD, GATA1, GATA2, GFI1, GINS1, GUCY2C, HAVCR2, HAX1, HELLS, HSPA1L, HTR1A, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6ST, IL7, IL7R, IRAK4, IRF2BP2, IRF3, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, JAGN1, JAK1, JAK3, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LIPA, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MASP1, MASP2, MBL2, MCM4, MEFV, MPO, MS4A1, MSN, MTHFD1, MTR, MVK, MYD88, NCF1, NCF2, NCF4, NEIL3, NFKB1, NFKB2, NFKBIA, NHEJ1, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NRAS, NTRK1, ORAI1, OTULIN, PAX1, PGM3, PIK3CD, PIK3R1, PLCG2, PLVAP, PNP, POLD1, POLD2, POLE, POLE2, POLR3A, POLR3C, POLR3E, POLR3F, POMP, PRF1, PRKCD, PRKDC, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSTPIP1, PTEN, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RC3H1, REL, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF31, RORC, RPSA, RTEL1, SAMHD1, SBDS, SEC61A1, SEMA3E, SH2D1A, SH3KBP1, SKIV2L, SLC29A3, SLC35C1, SLC39A7, SLC46A1, SLC7A7, SMARCAL1, SMARCD2, SP110, SPINK5, SPPL2A, SRP54, STAT1, STAT2, STAT3, STAT5B, STIM1, STING1, STK4, STX11, STXBP2, TAOK2, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TBX2, TCF3, TCIRG1, TFRC, TGFB1, TICAM1, TLR3, TLR4, TMC6, TMC8, TNFAIP3, TNFRSF13B, TNFRSF1A, TNFRSF9, TOP2B, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNC93B1, UNG, USB1, USP18, VAV1, VPS13B, VPS45, WAS, WDR1, WIPF1, XIAP, ZAP70, ZBTB24, ZNF341
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Our dedicated support assists you in choosing the most appropriate diagnostic test for your patients.
Gene sets – Primary Immune Disorders
Gene set (39 Genes, PID01)
Primary antibody deficiencies and CVID
(incl. Hyper IgM syndrome, CVID, agammaglobulnemia, activated PIK3delta
syndromes)
ADA2, AICDA, ARHGEF1, ATM, ATP6AP1, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, ICOSLG, IGLL1, IKBKB, IKZF1, IRF2BP2, LRBA, MS4A1, NFKB1, NFKB2, NFKBIA, PIK3CD, PIK3R1, PLCG2, PTEN, RAC2, SEC61A1, SH3KBP1, SLC39A7, TCF3, TNFRSF13B, TOP2B, UNG, VAV1
Gene set (34 Genes, PID02)
Severe combined immunodeficiencies (SCID)
(incl. newborn SCID-screening (TREC abnormal))
ADA, AK2, ATM, BCL11B, CD247, CD3D, CD3E, CD3G, CHD7, DCLRE1C, FOXI3, FOXN1, IL2RG, IL7R, JAK3, LAT, LIG1, LIG4, MSN, MTHFD1, MTR, NHEJ1, PAX1, PGM3, PNP, PRKDC, PTPRC, RAC2, RAG1, RAG2, RMRP, RPSA, SLC46A1, TBX1
Gene set (38 Genes, PID03)
Combined immunodeficiencies and other T-cell defects
B2M, CARD11, CARMIL2, CD27, CD3E, CD3G, CD8A, CIITA, CTPS1, DOCK2, FCHO1, ICOS, IKBKB, IL21R, IL2RA, IL2RB, IL2RG, LAT, LCK, MAGT1, MALT1, MAP3K14, MSN, ORAI1, PIK3CD, RASGRP1, RELB, RFX5, RFXANK, RFXAP, RIPK1, STIM1, STK4, TAP1, TAP2, TAPBP, TFRC, ZAP70
Gene set (13 Genes, PID04)
Hyper-IgE syndroms and differential diagnosis
ARPC1B, CARD11, DOCK8, DSG1, ERBIN, FOXP3, IL6ST, PGM3, SPINK5,
STAT3, STAT5B, TYK2, ZNF341
Gene set (19 Genes, PID05)
Syndromes with deficiencies of the adapative immunity
CDCA7, CHD7, CHUK, DNMT3B, EPG5, FOXI3, FOXN1, HELLS, PAX1, POLD1, POLD2, POLE, POLE2, SEMA3E, SMARCAL1, SP110, TBX1, TBX2, ZBTB24
Gene set (21 Genes, PID06)
Defects of the complement system
C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, CFB, CFD, CFH, CFI, CFP, FCN3, MASP1, MASP2, MBL2
Gene set (26 Genes, PID07)
Neutropenia
ADA2, CD40, CD40LG, CLPB, CSF3R, CXCR2, CXCR4, DNAJC21, EFL1, ELANE, G6PC3, GATA1, GATA2, GFI1, GINS1, HAX1, JAGN1, SBDS, SMARCD2, SRP54, TAZ, TCIRG1, USB1, VPS45, WAS, WIPF1
Gene set (8 Genes, PID08)
Chronic granulomatous disease (CGD) and differential diagnosis
CYBA, CYBB, CYBC1, G6PD, MPO, NCF1 c.75_76delGT, NCF2, NCF4
Gene set (15 Genes, PID09)
Other deficiencies of the phagocytosis
CEBPE, CFTR, CLPB, CXCR2, CXCR4, FERMT3, ITGB2, LAMTOR2, RAC2, RMRP, SLC35C1, SMARCD2, TAZ, VPS13B, WDR1
Gene set (12 Genes, PID10)
Chronic mucocutaneous candidiasis and susceptibility to other fungal infections
AIRE, CARD9, CLEC7A, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, RORC, STAT1, STAT3, TRAF3IP2
Gene set (11 Genes, PID11)
Susceptibility to mycobacterial infections
CYBB, GATA2, IFNGR1, IFNGR2, IL12B, IL12RB1, IL12RB2, IL23R, IRF8, ISG15, JAK1, RORC, SPPL2A, STAT1, TYK2
Gene set (25 Genes, PID12)
Susceptibility to viral infections
(incl. Herpes simplex and VZV encephalitis)
CXCR4, DBR1, GATA2, GINS1, IFNAR2, IRF3, IRF7, IRF8, IRF9, MCM4, PIK3CD, POLR3A, POLR3C, POLR3E, POLR3F, RANBP2, RTEL1, STAT1, STAT2, TBK1, TICAM1, TLR3, TRAF3, TYK2, UNC93B1
Gene set (13 Genes, PID13)
Generalised warts
CARMIL2, CD4, CIB1, CXCR4, DOCK8, GATA2, IL7, NFKBIA, RHOH, STK4, TAOK2, TMC6, TMC8
Gene set (4 Genes, PID14)
Gene set (15 Genes, PID15)
Defects of the NFκB signaling pathway
BCL10, CARD11, IKBKB, MALT1, MAP3K14, NFKB2, NFKBIA, RBCK1, REL, RELA, RELB, RIPK1, RNF31, TICAM1, TRAF3
Gene set (14 Genes, PID16)
Defects of the interferon type 1 signaling pathway
IFIH1, IFNAR1, IFNAR2, IRF7, ISG15, JAK1, STAT1, STAT2, STING1, TICAM1, TLR3, TRAF3, TYK2, USP18
Gene set (12 Genes, AID01)
Periodic fever syndromes with/without urticaria
HTR1A, MEFV, MVK, NLRC4, NLRP12, NLRP3, NTRK1, OTULIN, PLCG2, SLC29A3, TNFRSF1A, WDR1
Gene set (23 Genes, AID02)
Inflammation with cardinal symptoms of the connective and supporting tissues
ADA2, ADAM17, AP1S3, ARPC1B, CARD11, CARD14, CCN6, HAVCR2, IL1RN, IL36RN, LPIN2, NFKB1, NLRP1, NOD2, OTULIN, POMP, PSMA3, PSMB4, PSMB8, PSMB9, PSTPIP1, STING1, TNFAIP3
Gene set (33 Genes, AID03)
Immundysregulation with colitis, very-early onset
ADAM17, BACH2, CARMIL2, CD55, CTLA4, CYBA, CYBB, EGFR, EPCAM, FOXP3, GUCY2C, HSPA1L, IL10, IL10RA, IL10RB, IL21, IL21R, IL2RB, LRBA, NCF1 c.75_76delGT, NCF2, NCF4, NFKB1, NLRC4, PLVAP, RIPK1, SKIV2L, STAT3, TGFB1, TTC37, TTC7A, XIAP, ZBTB24
Gene set (19 Genes, AID04)
Hemophagocytic lymphohistiocytosis (HLH)
AP3B1, CD27, CD48, GATA2, HAVCR2, ITK, LIPA, LYST, MAGT1, NLRC4, PRF1, RAB27A, RC3H1, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, XIAP
Gene set (30 Genes, AID05)
Abnormal Lymphoproliferation
CARD11, CASP10, CASP8, CD27, CD70, CTLA4, DEF6, FADD, FAS, FASLG, IL2RA, IL2RB, ITK, KRAS, LRBA, MAGT1, NEIL3, NFKB1, NRAS, PIK3CD, PIK3R1, PRKCD, RASGRP1, RELA, SH2D1A, STAT1, STAT3, STK4, TNFRSF9, XIAP
Gene set (22 Genes, AID06)
Defects of the regulatory T-cells and IPEX-like phenotypes
BACH2, CARMIL2, CTLA4, DOCK8, FAS, FASLG, FOXP3, IL10, IL10RA, IL10RB, IL2RA, IL2RB, LRBA, MALT1, PIK3CD, PIK3R1, STAT1, STAT3, STAT5B, TGFB1, TTC37, TTC7A
Gene set (26 Genes, AID07)
Interferonopathy type 1 and differential diagnosis
ADAR, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, DNASE1, DNASE1L3, IFIH1, ISG15, POMP, PRKCD, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, STING1, TREX1, USP18
Gene set (11 Genes, AID08)
Syndromes with immundysregulation
ADA2, AIRE, ARPC1B, CDC42, ITCH, NFKB1, RBCK1, RNF31, SLC29A3, STING1, TRNT1
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Our Portfolio
CeGaT is a provider of genetic diagnostics and NGS services. The company is based in Tübingen, Germany and is accredited according to CAP, CLIA and DIN EN ISO 15189.