The human immune system’s genetic architecture profoundly influences susceptibility to disease, therapeutic response, and risk of adverse events. Immunogenetic profiling enables physicians to understand the molecular determinants of immune regulation and tailor interventions based on the patient’s unique genomic signature.
PreCheck Health Services’ Comprehensive Immunology Panel (291 genes) represents one of the most advanced molecular assays available for assessing inborn errors of immunity, dysregulated inflammation, autoimmune predisposition, and immunotherapy responsiveness.
The panel integrates evidence-based curation from the ACMG, ClinGen, OMIM, and peer-reviewed literature to deliver clinically actionable insights across oncology, infectious disease, rheumatology, and internal medicine disciplines.
❖ Recurrent or severe infections suggestive of primary immunodeficiency
❖ Autoimmune or autoinflammatory diseases, including lupus, multiple sclerosis, rheumatoid arthritis, psoriasis, and inflammatory bowel disease
❖ Chronic inflammatory syndromes with unclear etiology
❖ Oncology patients being evaluated for immune checkpoint inhibitors, CAR-T therapy, or targeted biologics
❖ Post-vaccine adverse responses or atypical vaccine efficacy
❖ Familial clustering of immune disorders
❖ Immune dysregulation–related drug toxicities
1.Immune Recognition and Signaling
Genes mediating antigen detection, interferon response, and cytokine-driven signaling cascades:
❖ IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, NOD2, TLR7, TICAM1, TNFAIP3, TNFRSF1A, TNFRSF9, TNFRSF13B, TRAF3, TRAF3IP2, TYK2, JAK1, JAK3, STAT1, STAT2, STAT3, STAT5B.
2.Lymphocyte Activation and Differentiation
Key genes regulating T- and B-cell receptor signaling, proliferation, and tolerance:
❖ BTK, CD19, CD27, CD40, CD40LG, CD79A, CD79B, IL2RA, IL2RG, IL6R, IL6ST, IL7R, FOXP3, CTLA4, ICOS, PIK3R1, PLCG2, LCK, REL, RFX5, ZAP70, WAS, WIPF1.
3.Cytokine and Chemokine Modulation
Interleukin and interferon pathways responsible for immune activation and resolution:
❖ IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL21R, IL36RN, IRAK4, IRF4, IRF8, SOCS1, SP110.
4.Complement and Innate Defense
Complement cascade and phagocytic machinery:
❖ C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CYBA, CYBB, CFH, CFI, CFD, CFP.
5.DNA Repair, Apoptosis, and Immune Maturation
Genes underlying genomic stability, lymphocyte recombination, and cell-cycle control:
❖ ATM, ATRX, NBN, DCLRE1C, LIG1, LIG4, RAG1, RAG2, PRKDC, TP53, PALB2, PMS2, RUNX1, MSH6, FANCC.
6.Immune Dysregulation and Autoinflammatory Disease
Pathways driving hyper-inflammation, macrophage activation, and periodic fever syndromes:
❖ NLRC4, NLRP1, NLRP3, NLRP12, MEFV, MVK, LPIN2, PSMB8, PSTPIP1, STING1, HMOX1, MAGT1.
7.Hematopoietic and Cellular Immunity
Genes affecting granulopoiesis, phagocyte function, and vesicular trafficking:
❖ HAX1, ELANE, G6PC3, RAB27A, LYST, UNC13D, STX11, STXBP2, VPS13B, VPS45, GFI1, FERMT3.
Genes Analyzed 291 immune-related targets.
Technology Platform Illumina NGS (Hybrid-Capture Target Enrichment).
Coverage Metrics >98% bases at ≥20× read depth.
Variant Types Detected SNVs and small indels (≤20 bp) within coding exons ±10 bp intronic boundaries.
Reference Genome GRCh38/hg38.
Bioinformatics Pipeline SeqOne™, ACMG/AMP compliant.
Confirmatory Testing Sanger sequencing or orthogonal method as indicated.
Turnaround Time ~10 calendar days.
Quality Metrics Read quality ≥Q30; allelic balance ≥0.3; minimum coverage 10×.
1.Oncology & Immunotherapy Optimization
❖ Identify patients likely to respond to checkpoint inhibitors and other immune-based therapies
❖ Stratify patients based on immune tolerance and toxicity risk
❖ Inform combination strategies with targeted therapy or chemotherapy
❖ Predict secondary resistance or need for re-challenge in relapsed cases
2.Autoimmune and Chronic Inflammatory Disorders
❖ Detect genetic predispositions for autoimmunity
❖ Guide therapy choices among immunosuppressants, biologics, and lifestyle interventions
❖ Inform family screening and risk prevention strategies
3.Infectious Diseases and Vaccine Response
❖ Understand patient variability in pathogen susceptibility and vaccine efficacy
❖ Assess immune system resilience or overactivation potential
❖ Personalize booster or biological therapy regimens
4.General Immunological Wellness
❖ Monitor immunogenetics profiles in complex cases with unexplained symptoms
❖ Offer early warning for systemic inflammation, immune dysregulation, or rare immune disorders
❖ Support long-term care planning for chronic or relapsing conditions
Precision Therapeutics
Match therapies to immune profiles, especially for immunotherapy and biologics.
Adverse Event Prevention
Detect genetic risks for serious immune-related toxicities.
Disease Stratification
Clarify complex immune presentations with overlapping symptoms.
Clinical Trial Matching
Screen for immunogenetic inclusion/exclusion criteria
Comprehensive Risk Management
Evaluate both somatic and germline risk factors for complete care.
Pharmacogenetics Testing (for drug metabolism and gene-drug interactions)
❖ Match treatments to the patient’s metabolic phenotype (e.g., CYP2D6, CYP2C19, CYP3A5,CYP2C9), reducing the risk of adverse drug reactions and improving efficacy.
Together, these tools enable precision medicine teams to offer a fully customized, data-driven treatment plan for each patient.
Immunogenetics testing is no longer limited to oncology. It is a foundational pillar in modern precision medicine, helping clinicians unlock the immune system's role across a spectrum of diseases. With a robust panel, fast turnaround, and evidence-backed reporting, PreCheck Health Services empowers providers to deliver safer, smarter, and more personalized care, one immune gene at a time.
The Comprehensive Immunology Panel is designed to detect single-nucleotide variants (SNVs) and small insertions and deletions in 291 genes associated with immunological disorder risk. Targeted regions for this panel include the coding exons and 10 bp intronic sequences immediately to the exon-intron boundary of each coding exon in each of these genes. Extracted patient DNA is prepared using targeted hybrid capture, assignment of a unique index, and sequencing via Illumina sequencing by synthesis (SBS) technology. Data is aligned using the human genome build GRCh38. Variant interpretation is performed according to current American College of Medical Genetics and Genomics (ACMG) professional guidelines for the interpretation of germline sequence variants using Pipeline SeqOne.
ADA, ADA2, ADAM17, AICDA, AIRE, AK2, AP1S3, AP3B1, AP3D1, ARX, ATM, ATRX, B2M, BCL10, BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD9, CARD11, CARD14, CASP8, CASP10, CCNO, CD19, CD27, CD40, CD40LG, CD46, CD55, CD59, CD79A, CD79B, CD247, CDKL5, CEBPA, CEBPE, CFD, CFH, CFI, CFP, CFTR, CIITA, CLCN7, COL7A1, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1C, DEF6, DGKE, DNASE1L3, DNASE2, DOCK8, DTNBP1, ELANE, EPG5, ETV6, EXTL3, F9, FANCC, FAS, FASLG, FERMT3, FGD1, FMR1, FOXN1, FOXP3, G6PC1, G6PC3, G6PD, GATA2, GFI1, HAX1, HMOX1, HPS1, HPS3, HPS4, HPS5, HPS6, HUWE1, ICOS, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IL1RAPL1, IL1RN, IL2RA, IL2RG, IL6R, IL6ST, IL7R, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL21R, IL36RN, IRAK4, IRF4, IRF8, ISG15, ITCH, ITGB2, ITK, JAGN1, JAK1, JAK3, KDM5C, KRAS, L1CAM, LCK, LIG1, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MASP2, MC2R, MCM4, MECP2, MED12, MEFV, MID1, MPL, MRTFA, MSH6, MTHFD1, MVK, MYD88, MYH9, NBN, NCF1, NCF2, NCF4, NCSTN, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP3, NLRP12, NOD2, OAS1, OCRL, ORAI1, PALB2, PARN, PAX1, PEPD, PGM3, PI4KA, PIK3CD, PIK3CG, PIK3R1, PLCG2, PMS2, PNP, POLA1, POMP, PRF1, PRG4, PRKCD, PRKDC, PSENEN, PSMB8, PSTPIP1, PTEN, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, REL, RFX5, RFXANK, RFXAP, RHOH, RIGI, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RORC, RPS6KA3, RTEL1, RUNX1, SAMD9, SAMHD1, SBDS, SERPING1, SH2D1A, SKIC2, SKIC3, SLC7A7, SLC16A2, SLC29A3, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC46A1, SMARCAL1, SOCS1, SP110, SPINK5, SRP72, STAT1, STAT2, STAT3, STAT5B, STIM1, STING1, STK4, STX11, STXBP2, TAFAZZIN, TAP1, TAP2, TAPBP, TBK1, TBX1, TCF3, TERC, TERT, TICAM1, TINF2, TLR7, TMC6, TMC8, TNFAIP3, TNFRSF1A, TNFRSF9, TNFRSF13B, TP53, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC7A, TYK2, UNC13D, UNC93B1, UNG, USB1, VPS13B, VPS45, WAS, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24.
This test aims to detect all clinically relevant variants within the coding regions of the genes evaluated. Pathogenic and likely pathogenic variants detected in these genes should be confirmed by orthogonal methods. Detected genetic variants classified as benign, likely benign, or of uncertain significance are not included in this report. Homopolymer regions and regions outside of the coding regions cannot be captured by the standard NGS target enrichment protocols. Currently, the assay does not detect large deletions and duplications. This analysis also cannot detect pathogenic variants within regions that were not analyzed (e.g., introns, promoter and enhancer regions, long repeat regions, and mitochondrial sequence). This assay is not designed to detect mosaicism and is not designed to detect complex gene rearrangements or genomic aneuploidy events. It is important to understand that there may be variants in these genes undetectable using current technology. Additionally, there may be genes associated with immunological pathology whose clinical association has not yet been definitively established. The test may therefore not detect all variants associated with immunological pathology. The interpretation of variants is based on our current understanding of the genes in this panel and is based on current ACMG professional guidelines for the interpretation of germline sequence variants. Interpretations may change over time as more information about the genes in this panel becomes available. Qualified health care providers should be aware that future reclassifications of genetic variants can occur as ACMG guidelines are updated. Factors influencing the quantity and quality of extracted DNA include, but are not limited to, collection technique, the amount of buccal epithelial cells obtained, the patient’s oral hygiene, and the presence of dietary or microbial sources of nucleic acids and nucleases, as well as other interfering substances and matrix-dependent influences. PCR inhibitors, extraneous DNA, and nucleic acid-degrading enzymes may adversely affect assay results.
This laboratory-developed test (LDT) was developed, and its performance characteristics were determined by PreCheck Health Services, Inc. This test was performed at PreCheck Health Services, Inc. (CLIA ID: 10D2210020 and CAP ID: 9101993), which is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity testing.
This assay has not been cleared or approved by the U.S. Food and Drug Administration (FDA). Clearance or approval by the FDA is not required for the clinical use of this analytically and clinically validated laboratory-developed test. This assay has been developed for clinical purposes, and it should not be regarded as investigational or for research.
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