Molecular genetic testing is integral to diagnosing primary immunodeficiencies (PID) and autoinflammatory/autoimmune diseases (AID). While blood and urine tests are an important diagnostic precursor to establishing a tentative diagnosis, often only the detection of a pathogenic genetic alteration can definitively confirm a suspicion and establish a definitive diagnosis. The result of genetic testing can thus be decisive for further clinical patient management concerning vaccinations, medication, and transplantation.
The Diagnostic Panel for Immune Disorders covers all known monogenic diseases of the autoinflammatory and autoimmune spectrum (gene sets AID) and includes all currently known genes for primary immunodeficiencies (gene sets PID). The Panel is based on our proprietary, high-quality ExomeXtra® enrichment, covering all protein-coding regions as well as intronic and intergenic variants described as disease-relevant in the databases HGMD and ClinVar. In addition, the ExomeXtra® enrichment enables a genome-wide CNV calling with similar performance to array CGH. It thus provides the ideal basis for genetic diagnostics.
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What We Offer with the Panel for Immune Disorders
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.
The Diagnostic Panel for Immune Disorders is based on CeGaT’s ExomeXtra® enrichment. This allows, without additional sequencing, phenotypically eligible gene sets of other CeGaT panels or single genes to be additionally ordered. If you would like to assemble an individual panel, please feel free to contact us. We will be happy to support you.
In addition to the primary diagnostic assignment, the assessment of ACMG genes and pharmacogenetic profiling may also be ordered.
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.
Sample 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 – Immune Disorders
Primary Antibody Deficiencies and CVID (PID01, 40 Genes)
(incl. Hyper IgM syndrome, CVID, agammaglobulnemia, 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
Severe Combined Immunodeficiencies (SCID) (PID02, 35 Genes)
(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
Combined Immunodeficiencies and Other T-Cell Defects (PID03, 40 Genes)
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
Hyper-Ige Syndroms and Differential Diagnosis (PID04, 13 Genes)
ARPC1B, CARD11, DOCK8, DSG1, ERBIN, FOXP3, IL6ST, PGM3, SPINK5, STAT3, STAT5B, TYK2, ZNF341
Syndromes with Deficiencies of the Adapative Immunity (PID05, 19 Genes)
CDCA7, CHD7, CHUK, DNMT3B, EPG5, FOXI3, FOXN1, HELLS, PAX1, POLD1, POLD2, POLE, POLE2, SEMA3E, SMARCAL1, SP110, TBX1, TBX2, ZBTB24
Defects of the Complement System (PID06, 21 Genes)
C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, CFB, CFD, CFH, CFI, CFP, FCN3, MASP1, MASP2, MBL2
Neutropenia (PID07, 26 Genes)
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
Chronic Granulomatous Disease (CGD) And Differential Diagnosis (PID08, 8 Genes)
CYBA, CYBB, CYBC1, G6PD, MPO, NCF1 c.75_76delGT, NCF2, NCF4
Other Deficiencies of the Phagocytes (PID09, 16 Genes)
CEBPE, CFTR, CLPB, CXCR2, CXCR4, FERMT3, ITGB2, LAMTOR2, MRTFA, RAC2, RMRP, SLC35C1, SMARCD2, TAZ, VPS13B, WDR1
Chronic Mucocutaneous Candidiasis and Susceptibility to Other Fungal Infections (PID10, 13 Genes)
AIRE, CARD9, CLEC7A, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, MAPK8, RORC, STAT1, STAT3, TRAF3IP2
Susceptibility to Mycobacterial Infections (PID11, 18 Genes)
CYBB, GATA2, IFNG, IFNGR1, IFNGR2, IL12B, IL12RB1, IL12RB2, IL23R, IRAK4, IRF8, ISG15, JAK1, RORC, SPPL2A, STAT1, TBX21, TYK2
Susceptibility to Viral Infections (PID12, 29 Genes)
(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
Generalised Warts (PID13, 13 Genes)
CARMIL2, CD4, CIB1, CXCR4, DOCK8, GATA2, IL7, NFKBIA, RHOH, STK4, TAOK2, TMC6, TMC8
Defects of the NfκB Signaling Pathway (PID15, 15 Genes)
BCL10, CARD11, IKBKB, MALT1, MAP3K14, NFKB2, NFKBIA, RBCK1, REL, RELA, RELB, RIPK1, RNF31, TICAM1, TRAF3
Defects of the Interferon Type 1 Signaling Pathway (PID16, 13 Genes)
IFIH1, IFNAR1, IFNAR2, IRF7, ISG15, JAK1, STAT1, STAT2, STING1, TICAM1, TLR3, TRAF3, TYK2
Periodic Fever Syndromes with/without Urticaria (AID01, 14 Genes)
F12 c.859T>A, HTR1A, MEFV, MVK, NLRC4, NLRP12, NLRP3, NTRK1, OTULIN, PLCG2, RIPK1, SLC29A3, TNFRSF1A, WDR1
Inflammation with Cardinal Symptoms of the Connective and Supporting Tissues (AID02, 25 Genes)
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
Immundysregulation with Colitis, Very-Early Onset (AID03, 33 Genes)
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
Hemophagocytic Lymphohistiocytosis (HLH) (AID04, 21 Genes)
AP3B1, CD27, CD48, GATA2, HAVCR2, ITK, LIPA, LYST, MAGT1, NCKAP1L, NLRC4, PIK3CG, PRF1, RAB27A, RC3H1, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, XIAP
Abnormal Lymphoproliferation (AID05, 33 Genes)
incl. Autoimmun-lymphoproliferatives Syndrom (ALPS)
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
Defects of the Regulatory T-cells and IPEX-like Phenotypes (AID06, 22 Genes)
BACH2, CARMIL2, CTLA4, DOCK8, FAS, FASLG, FOXP3, IL10, IL10RA, IL10RB, IL2RA, IL2RB, LRBA, MALT1, PIK3CD, PIK3R1, STAT1, STAT3, STAT5B, TGFB1, TTC37, TTC7A
Interferonopathy Type 1 and Differential Diagnosis (AID07, 27 Genes)
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
Gene Directory – Panel for Immune Disorders
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
Additional Services
HLA-Typing (HLA01)
HLA class I (Gene A, B, C) and HLA class II (Gene DPA1, DPB1, DQA1, DQB1, DRB1, DRB3, DRB4, DRB5)
ACMG Genes
Genetic variation may sometimes be identified, which does not fit within the scope of the requested genetic analysis (so-called secondary findings). The reporting of these variants is limited to pathogenic alterations (ACMG classes 4 and 5) within selected genes, for which a treatment or course of action exists for you or your family (according to the current guidelines of the American College of Medical Genetics and Genomics). Details on genes and associated diseases can be found here.
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 twenty-two 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.
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Diagnostic Support
We will assist you in selecting the diagnostic strategy – for each patient.
