Understanding how a patient’s immune system is genetically programmed provides invaluable insight into disease predisposition, therapy selection, and treatment response. Immunogenetic testing leverages genomic data to guide clinical decisions in a variety of medical contexts, from oncology to autoimmune and chronic inflammatory diseases.
At PreCheck Health Services, our comprehensive 97-gene Immunogenetics Testing Panel is designed to profile key genes that govern immune regulation, inflammation, antigen presentation, and immune-modulated treatment response. This test offers clinicians a deeper look into how immune genetics influence individual patient outcomes—paving the way for safer, more effective, and personalized medical care.
* Cancer: Where immune checkpoint inhibitors or other immunotherapies are being considered
* Autoimmune Disorders:Such as lupus, rheumatoid arthritis, multiple sclerosis, or inflammatory bowel disease
* Chronic InflammatoryConditions: Including asthma, psoriasis, or chronic fatigue syndrome
* Immunodeficiency or Hyper reactivity: Where immune response appears atypical or unpredictable
* Recurrent Infections:Suggesting potential immune dysfunction
* Adverse Drug Reactions:Especially related to immunotherapy, biologics, or vaccines
* Family history of immune or inflammatory disease
PD-1, PD-L1, CTLA-4, LAG3, TIM3 — regulating T-cell activation and immune surveillance
IL2, IL6, IL10, TNF-alpha, IFN-gamma — mediating inflammation, immune suppression, and resolution
Genes involved in antigen presentation and immunodominance (HLA-A, HLA-B,HLA-C, HLA-DR)
Key components in adaptive immune activation and tolerance
Genes modulating cancer cell ability to evade immune detection
Associated with susceptibility to autoimmune and inflammatory disease
* Genes Analyzed: 97 curated immunogenetics targets
* Technology Platform: High-throughput Next-Generation Sequencing (NGS)
* Depth of Coverage: >98% at >20x depth across targeted exons and intronic boundaries
* Bioinformatics Pipeline: Validated with clinical-grade precision; data interpreted using AMP/ACMG guidelines
* Supplemental Testing: Sanger confirmation or additional assays when required
* Turnaround Time: 10 calendar days
* 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
* Detect genetic predispositions for autoimmunity
* Guide therapy choices among immunosuppressants, biologics, and lifestyle interventions
* Inform family screening and risk prevention strategies
* Understand patient variability in pathogen susceptibility and vaccine efficacy
* Assess immune system resilience or over activation potential
* Personalize booster or biological therapy regimens
* 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
This immunogenetic panel is best used as part of a multi-dimensional diagnostic strategy, often in combination with:
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 97-gene 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 in96 genes associated with immunological disorder risk. Targeted regions for this panel include the coding exons and 10 bp intronicsequences immediate to the exon-intron boundary of each coding exon in each of these genes. Extracted patient DNA is preparedusing targeted hybrid capture, assignment of a unique index, and sequencing via Illumina sequencing by synthesis (SBS) technology.Data is aligned using human genome build GRCh37. Variant interpretation is performed according to current American College ofMedical Genetics and Genomics (ACMG) professional guidelines for the interpretation of germline sequence variants using FabricEnterpriseTM Pipeline 6.6.15. Variant interpretation and reporting is performed by Fabric Clinical (CLIA ID: 45D2281059 and CAP ID:9619501)), located at 6901 Quaker Avenue, Suite A, Lubbock, Texas, 79413. The following quality filters are applied to all variants:quality <500, allelic balance <0.3, coverage <10x.
ADA, AIRE, ARX, ATM, ATRX, BLM, BRCA1, BRCA2, BTK, C1QBP, CASP10, CD40, CD70, CDKL5, CEBPA, CFTR, CHD7, COPA, CR2, CTLA4,CYBA, CYBB, DNASE2, EPCAM, F13B, F5, F7, F9, FANCC, FAS, FASLG, FCHO1, FGB, FGD1, FMR1, FOXP3, G6PC, G6PD, GP1BB, HUWE1,HYOU1, IL1RAPL1, IL23R, IL2RB, IL2RG, IL6R, IL6ST, IL7R, ITCH, JAK1, JAK2, JAK3, KDM5C, KRAS, L1CAM, LIG1, LIG4, LRBA, MAP3K14,MECP2, MED12, MEFV, MID1, MKL1, MLH1, MPL, MSH2, MSH6, MTHFD1, MYD88, NF1, NFKB1, NFKB2, NHEJ1, NRAS, OCRL, PALB2,PLCG2, PMS2, POLE2, PRKCD, PTEN, PTPRC, RASGRP1, RELA, RIPK1, RLTPR, RPS6KA3, RUNX1, SLC16A2, SPPL2A, STAT3, TERT,TNFRSF13B, TP53, VPS13B
This test aims to detect all clinically relevant variants within the coding regions of the genes evaluated. Pathogenic and likelypathogenic variants detected in these genes should be confirmed by orthogonal methods. Detected genetic variants classified asbenign, likely benign, or of uncertain significance are not included in this report. Homopolymer regions and regions outside of thecoding regions cannot be captured by the standard NGS target enrichment protocols. At this time, the assay does not detect largedeletions and duplications. This analysis also cannot detect pathogenic variants within regions which were not analyzed (e.g., introns,promoter and enhancer regions, long repeat regions, and mitochondrial sequence). This assay is not designed to detect mosaicismand is not designed to detect complex gene rearrangements or genomic aneuploidy events. It is important to understand that theremay be variants in these genes undetectable using current technology. Additionally, there may be genes associated withimmunological pathology whose clinical association has not yet been definitively established. The test may therefore not detect allvariants associated with immunological pathology. The interpretation of variants is based on our current understanding of the genesin 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 careproviders should be aware that future reclassifications of genetic variants can occur as ACMG guidelines are updated. Factorsinfluencing the quantity and quality of extracted DNA include, but are not limited to, collection technique, the amount of buccalepithelial cells obtained, the patient’s oral hygiene, and the presence of dietary or microbial sources of nucleic acids and nucleases, aswell as other interfering substances and matrix-dependent influences. PCR inhibitors, extraneous DNA, and nucleic acid degradingenzymes may adversely affect assay results.
This laboratory developed test (LDT) was developed and its performance characteristics were determined by PreCheck HealthServices, Inc. This test was performed at PreCheck Health Services, Inc. (CLIA ID: 10D2210020 and CAP ID: 9101993) that is certifiedunder the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity testing. This assayhas not been cleared or approved by the U.S. Food and Drug Administration (FDA). Clearance or approval by the FDA is not requiredfor the clinical use of this analytically and clinically validated laboratory developed test. This assay has been developed for clinicalpurposes and it should not be regarded as investigational or for research.
1.Town M, Bautista JM, Mason PJ, Luzzatto L. Human molecular genetics. 1992, Jun. Both mutations in G6PD A- are necessary toproduce the G6PD deficient phenotype. (PMID: 1303173)
2.Beutler E, Kuhl W, Vives-Corrons JL, Prchal JT. Blood. 1989, Nov 15. Molecular heterogeneity of glucose-6-phosphate dehydrogenaseA-. (PMID: 2572288)
3.Hirono A, Beutler E. Proceedings of the National Academy of Sciences of the United States of America. 1988, Jun. Molecular cloningand nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). (PMID: 2836867)
4.Yoshida A, Stamatoyannopoulos G, Motulsky AG. Science (New York, N.Y.). 1967, Jan 06. Negro variant of glucose-6-phosphatedehydrogenase deficiency (A-) in man. (PMID: 6015571)
5.Gómez-Gallego F, Garrido-Pertierra A, Bautista JM. The Journal of biological chemistry. 2000, Mar 31. Structural defects underlyingprotein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency. (PMID: 10734064)
6.Hirono A, Kawate K, Honda A, Fujii H, et al. Blood. 2002, Feb 15. A single mutation 202G>A in the human glucose-6-phosphatedehydrogenase gene (G6PD) can cause acute hemolysis by itself. (PMID: 11852882)
7.Dallol A, Banni H, Gari MA, Al-Qahtani MH, et al. Journal of translational medicine. 2012, Sep 24. Five novel glucose-6-phosphatedehydrogenase deficiency haplotypes correlating with disease severity. (PMID: 23006493) Shahjahani M, Mortazavi Y, Heli B, Dehghanifard A. International journal of hematology-oncology and stem cell research. 2013.Prevalence of G6PD Deficiency in Iran. (PMID: 24505519)
8.Shah SS, Macharia A, Makale J, Uyoga S, et al. BMC medical genetics. 2014, Sep 09. Genetic determinants of glucose-6-phosphatedehydrogenase activity in Kenya. (PMID: 25201310)
latest announcements and stay updated on our most recent developments.
.svg)
