Panel for Immune Disorders

Analysis of all known genes associated with primary immune disorders.

Panel diagnostics: The panel for genetic immune disorders covers 339 genes. All these genes are sequenced simultaneously, as part of the CeGaT ExomeXtra. We interpret all genes associated with the patient’s phenotype, referred to as a gene set. Additionally, mtDNA is part of the enrichment.

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.

This diagnostic panel has a sensitivity of >99.8% for the heterozygous variant; the average coverage is >140x.

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Our dedicated support assists you in choosing the most appropriate diagnostic test for your patients.

General Information

It is possible to select one or multiple predefined gene sets.
In addition to the comprehensive analysis of the genes of the requested gene set, we can extend the analysis to all genes of the diagnostic panel on request. We report pathogenic and probably pathogenic variants (ACMG classes 4 and 5), which may be associated with the indication of the person seeking advice.
This panel is based on the CeGaT ExomeXtra enrichment. It is possible to expand the analysis to phenotypically relevant gene sets from other CeGaT Panels or individual genes, without additional sequencing. If you are looking for a custom panel, please contact us. We support you with the ordering process.
In addition to the primary diagnostic order, assessing the ACMG genes and creating a pharmacogenetic profile can also be ordered.

Material, Turnaround Time and 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.

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.

Gene sets – Primary Immune Disorders

Gene set (40 Genes, PID01)

Primary antibody deficiencies and CVID

(incl. Hyper IgM syndrome, CVID, agammaglobulinemia, activated PIK3delta
syndromes)

ADA2, AICDA, ARHGEF1, ATM, ATP6AP1, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, FNIP1, ICOS, ICOSLG, IGLL1, IKBKB, IKZF1, IRF2BP2, LRBA, MS4A1, NFKB1, NFKB2, NFKBIA, PIK3CD, PIK3R1, PLCG2, PTEN, RAC2, SEC61A1, SH3KBP1, SLC39A7, TCF3, TNFRSF13B, TOP2B, UNG, VAV1

Order Form (pdf)

Gene set (35 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, LCP2, LIG1, LIG4, MSN, MTHFD1, MTR, NHEJ1, PAX1, PGM3, PNP, PRKDC, PTPRC, RAC2, RAG1, RAG2, RMRP, RPSA, SLC46A1, TBX1

Order Form (pdf)

Information

The PID02 panel was designed for newborns who tested positive in the SCID screening and is thus aimed at the elucidation of primary cellular immunodeficiencies. Early diagnosis – before symptoms emerge – enables an appropriate treatment strategy and, if necessary, a higher cure rate through blood stem cell transplantation. Detection of an underlying genetic defect allows for patient prioritization in the transplantation process and exclusion of DNA repair defect disorders, such as ataxia-telangiectasia, for which conditioning pretreatments should be used with caution. Thymic disorders, in which the maturation of T cells is disturbed, and consequently, a conspicuous TREC-SCID screening may occur, are also included as differential diagnoses in this panel.

Gene set (40 Genes, PID03)

Combined immunodeficiencies and other T-cell defects

B2M, CARD11, CARMIL2, CD27, CD3E, CD3G, CD8A, CIITA, COPG1, CTPS1, DOCK2, FCHO1, ICOS, IKBKB, IL21R, IL2RA, IL2RB, IL2RG, LAT, LCK, LCP2, MAGT1, MALT1, MAP3K14, MSN, ORAI1, PIK3CD, RASGRP1, RELB, RFX5, RFXANK, RFXAP, RIPK1, STIM1, STK4, TAP1, TAP2, TAPBP, TFRC, ZAP70

Order Form (pdf)

Gene set (13 Genes, PID04)

Hyper-IgE syndroms and differential diagnosis

ARPC1B, CARD11, DOCK8, DSG1, ERBIN, FOXP3, IL6ST, PGM3, SPINK5, STAT3, STAT5B, TYK2, ZNF341

Order Form (pdf)

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

Order Form (pdf)

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

Order Form (pdf)

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

Order Form (pdf)

Gene set (8 Genes, PID08)

Chronic granulomatous disease (CGD) and differential diagnosis

CYBA, CYBB, CYBC1, G6PD, MPO, NCF1 c.75_76delGT, NCF2, NCF4

Order Form (pdf)

Gene set (16 Genes, PID09)

Other deficiencies of the phagocytosis

CEBPE, CFTR, CLPB, CXCR2, CXCR4, FERMT3, ITGB2, LAMTOR2, MRTFA, RAC2, RMRP, SLC35C1, SMARCD2, TAZ, VPS13B, WDR1

Order Form (pdf)

Gene set (13 Genes, PID10)

Chronic mucocutaneous candidiasis and susceptibility to other fungal infections

AIRE, CARD9, CLEC7A, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, MAPK8, RORC, STAT1, STAT3, TRAF3IP2

Order Form (pdf)

Gene set (18 Genes, PID11)

Susceptibility to mycobacterial infections

CYBB, GATA2, IFNG, IFNGR1, IFNGR2, IL12B, IL12RB1, IL12RB2, IL23R, IRAK4, IRF8, ISG15, JAK1, RORC, SPPL2A, STAT1, TBX21, TYK2

Order Form (pdf)

Gene set (29 Genes, PID12)

Susceptibility to viral infections

(incl. Herpes simplex and VZV encephalitis)

CXCR4, DBR1, GATA2, GINS1, IFNAR1, IFNAR2, IRF3, IRF7, IRF8, IRF9, MCM10, MCM4, NOS2, PIK3CD, POLR3A, POLR3C, POLR3E, POLR3F, RANBP2, RTEL1, SNORA31, STAT1, STAT2, TBK1, TICAM1, TLR3, TRAF3, TYK2, UNC93B1

Order Form (pdf)

Gene set (13 Genes, PID13)

Generalised warts

CARMIL2, CD4, CIB1, CXCR4, DOCK8, GATA2, IL7, NFKBIA, RHOH, STK4, TAOK2, TMC6, TMC8

Order Form (pdf)

Gene set (4 Genes, PID14)

Defects of the TLR signaling pathway

IRAK4, MYD88, TICAM1, TLR4

Order Form (pdf)

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

Order Form (pdf)

Gene set (13 Genes, PID16)

Defects of the interferon type 1 signaling pathway

IFIH1, IFNAR1, IFNAR2, IRF7, ISG15, JAK1, STAT1, STAT2, STING1, TICAM1, TLR3, TRAF3, TYK2

Order Form (pdf)

Gene set (14 Genes, AID01)

Periodic fever syndromes with/without urticaria

F12 (c.859T>A), HTR1A, MEFV, MVK, NLRC4, NLRP12, NLRP3, NTRK1, OTULIN, PLCG2, RIPK1, SLC29A3, TNFRSF1A, WDR1

Order Form (pdf)

Gene set (25 Genes, AID02)

Inflammation with cardinal symptoms of the connective and supporting tissues

ADA2, ADAM17, AP1S3, ARPC1B, CARD11, CARD14, CCN6, HAVCR2, IL1RN, IL36RN, LACC1, LPIN2, NFKB1, NLRP1, NOD2, OTULIN, POMP, PSMA3, PSMB4, PSMB8, PSMB9, PSTPIP1, STING1, TNFAIP3, UBA1

Order Form (pdf)

Gene set (33 Genes, AID03)

Immune dysregulation 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

Order Form (pdf)

Gene set (21 Genes, AID04)

Hemophagocytic lymphohistiocytosis (HLH)

AP3B1, CD27, CD48, GATA2, HAVCR2, ITK, LIPA, LYST, MAGT1, NCKAP1L, NLRC4, PIK3CG, PRF1, RAB27A, RC3H1, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, XIAP

Order Form (pdf)

Gene set (33 Genes, AID05)

Abnormal Lymphoproliferation

CARD11, CASP10, CASP8, CD27, CD70, CDC42, CTLA4, DEF6, FADD, FAS, FASLG, IL2RA, IL2RB, ITK, KRAS, LRBA, MAGT1, NCKAP1L, NEIL3, NFKB1, NRAS, PIK3CD, PIK3R1, PRKCD, RASGRP1, RELA, SH2D1A, SOCS1, STAT1, STAT3, STK4, TNFRSF9, XIAP

Order Form (pdf)

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

Order Form (pdf)

Gene set (27 Genes, AID07)

Interferonopathy type 1 and differential diagnosis

incl. Interferonopathies with leading neurological symptoms, CANDLE syndrome and chilblain lupus / juvenile systemic lupus erythematosus
ADAR, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, DNASE1, DNASE1L3, IFIH1, ISG15, POMP, PRKCD, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, RNASEH2A, RNASEH2B, RNASEH2C, RNU7-1, SAMHD1, STAT2, STING1, TREX1

Order Form (pdf)

Gene set (12 Genes, AID08)

Syndromes with immune dysregulation

ADA2, AIRE, ARPC1B, C2orf69, CDC42, ITCH, NFKB1, RBCK1, RNF31, SLC29A3, STING1, TRNT1

Order Form (pdf)

Gene Directory

Gene Directory (339 Genes)

Immune Disorders Panel:

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, C2orf69, 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, COPG1, 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, F12, FADD, FAS, FASLG, FCHO1, FCN3, FERMT3, FNIP1, FOXI3, FOXN1, FOXP3, G6PC3, G6PD, GATA1, GATA2, GFI1, GINS1, GUCY2C, HAVCR2, HAX1, HELLS, HSPA1L, HTR1A, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNG, 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, LACC1, LAMTOR2, LAT, LCK, LCP2, LIG1, LIG4, LIPA, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MAPK8, MASP1, MASP2, MBL2, MCM10, MCM4, MEFV, MPO, MRTFA, MS4A1, MSN, MTHFD1, MTR, MVK, MYD88, NCF1, NCF2, NCF4, NCKAP1L, NEIL3, NFKB1, NFKB2, NFKBIA, NHEJ1, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOS2, NRAS, NTRK1, ORAI1, OTULIN, PAX1, PGM3, PIK3CD, PIK3CG, 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, RNU7-1, RORC, RPSA, RTEL1, SAMHD1, SBDS, SEC61A1, SEMA3E, SH2D1A, SH3KBP1, SKIV2L, SLC29A3, SLC35C1, SLC39A7, SLC46A1, SLC7A7, SMARCAL1, SMARCD2, SNORA31, SOCS1, SP110, SPINK5, SPPL2A, SRP54, STAT1, STAT2, STAT3, STAT5B, STIM1, STING1, STK4, STX11, STXBP2, TAOK2, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TBX2, TBX21, TCF3, TCIRG1, TFRC, TGFB1, TICAM1, TLR3, TLR4, TMC6, TMC8, TNFAIP3, TNFRSF13B, TNFRSF1A, TNFRSF9, TOP2B, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UBA1, UNC13D, UNC93B1, UNG, USB1, VAV1, VPS13B, VPS45, WAS, WDR1, WIPF1, XIAP, ZAP70, ZBTB24, ZNF341

ACMG Genes

In addition to examining variants associated with the phenotype, the patient can also perform an additional screening for relevant pathogenic variants within the genes listed by the American College of Medical Genetics and Genomics (ACMG SF V2.0; Kalia et al., 2017, PMID: 27854360).
This additional screening of the ACMG genes enables identifying relevant pathogenic variants with therapeutic relevance, regardless of the patient’s phenotype. The ACMG medical report is separate.

Pharmacogenetics

Pharmacogenetic analysis detects genetic changes that affect the effectiveness of drugs. Genetic variants that affect proteins responsible for the metabolism of substances can significantly change their tolerance and efficacy. These drugs include, among others, antidepressants, pain relievers, neuroleptics, chemotherapeutics, AIDS drugs, thrombosis drugs, anesthetics, beta-blockers, or statins.

The reduced activity of a specific enzyme can lead to an increased drug level in the standard dosage, which is often associated with undesirable side effects. With drugs that are only activated by metabolism, the therapeutic effect can be completely absent. Likewise, due to the resulting increased rate of degradation of the medicinal substance, an increased enzyme activity leads to inadequate effectiveness of the therapy.

The pharmacogenetics option analyzes known variants in 20 genes involved in the metabolism of drugs. If specific gene variants occur, the treating doctor can adapt the therapy individually. The pharmacogenetic analysis can minimize serious side effects and helps to avoid failure of the treatment.

Information

Molecular genetic testing is an integral part of diagnosing primary immunodeficiencies (PID) and autoinflammatory/autoimmune diseases (AID). While blood and urine tests are an essential diagnostic precursor to establishing a tentative diagnosis, often only the detection of a pathogenic genetic variant can definitively confirm a suspicion and establish a definitive diagnosis. The result of genetic testing can thus be crucial for further clinical patient management with regard to vaccination, medication, and transplantation.
Our immunodeficiency panels cover all known monogenic diseases of the autoinflammatory and autoimmune spectrum (AID panels) and include all currently known genes for primary immunodeficiencies (PID panels).

Knowledge

Download Fact Sheet (PDF)

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Panel for Immune Disorders

Analysis of all known genes associated with primary immune disorders.

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General Information

Material, Turnaround Time and Costs

Method

Gene sets – Primary Immune Disorders

Primary antibody deficiencies and CVID

Severe combined immunodeficiencies (SCID)

Combined immunodeficiencies and other T-cell defects

Hyper-IgE syndroms and differential diagnosis

Syndromes with deficiencies of the adapative immunity

Defects of the complement system

Neutropenia

Chronic granulomatous disease (CGD) and differential diagnosis

Other deficiencies of the phagocytosis

Chronic mucocutaneous candidiasis and susceptibility to other fungal infections

Susceptibility to mycobacterial infections

Susceptibility to viral infections

Generalised warts

Defects of the TLR signaling pathway

Defects of the NFκB signaling pathway

Defects of the interferon type 1 signaling pathway

Periodic fever syndromes with/without urticaria

Inflammation with cardinal symptoms of the connective and supporting tissues

Immune dysregulation with colitis, very-early onset

Hemophagocytic lymphohistiocytosis (HLH)

Abnormal Lymphoproliferation

Defects of the regulatory T-cells and IPEX-like phenotypes

Interferonopathy type 1 and differential diagnosis

Syndromes with immune dysregulation

Gene Directory

Immune Disorders Panel:

Knowledge

Genetic Diagnostics

Research & Pharma Solutions

Company