Immunology NGS Panel
The Immunology Genetics Panel is an advanced targeted Next-Generation Sequencing (NGS) assay designed to comprehensively profile germline genetic variants across pathways governing immune system development, cellular/humoral responses, and immune regulation. By identifying the molecular underlying causes of Primary Immunodeficiencies (PID), Inborn Errors of Immunity (IEI), autoinflammatory syndromes, and immune dysregulation disorders, this panel provides actionable data for definitive diagnosis, targeted biological therapies, hematopoietic stem cell transplantation (HSCT) planning, and family management.
Key Features & Advantages
- Definitive Diagnosis in Complex Immunodeficiencies: Resolves overlapping clinical phenotypes characterized by recurrent infections, autoimmunity, and systemic inflammation.
- Early Intervention & Organ Preservation: Facilitates early detection of life-threatening conditions like Severe Combined Immunodeficiency (SCID), enabling timely HSCT before irreversible organ damage or severe opportunistic infections occur.
- Prevention of Adverse Vaccine Events: Identifies severe T-cell or innate immunodeficiencies early, preventing the contraindications of live attenuated vaccines (e.g., BCG, Rotavirus).
- Cascade Testing & Family Planning: Maps precise inheritance modes (autosomal dominant/recessive, X-linked) to guide carrier screening, genetic counseling, and prenatal/PGT options.
Immunology NGS Panel vs. Standard Immunological Testing
| Feature | Immunology Genetics Panel (NGS) | Standard Immunological Tests (Immunoglobulins, Flow Cytometry) |
| Diagnostic Level | Direct genomic variants and causative mutations | Quantitative immune cell counts and serum antibody levels |
| Etiological Resolution | Absolute (Pinpoints exact genetic defect) | Phenotypic (Shows immune deficiency, not genetic cause) |
| Pre-Symptomatic Detection | Yes (Identifies risk prior to severe infectious episodes) | No (Evaluates status after clinical/immunological manifestation) |
| Therapeutic Guidance | Directly guides targeted biologics, gene therapy, and HSCT | Guides general supportive therapy (e.g., IVIG replacement) |
| Familial Risk Mapping | Precise inheritance pattern determination | None |
Key Applications
- Primary Immunodeficiencies (PID) & Inborn Errors of Immunity: Comprehensive profiling for Severe Combined Immunodeficiency (SCID), Common Variable Immunodeficiency (CVID), and X-linked Agammaglobulinemia (XLA).
- Autoinflammatory & Hereditary Periodic Fever Syndromes: Genetic screening for Familial Mediterranean Fever (FMF), CAPS, TRAPS, and HIDS.
- Congenital Phagocyte Defects: Molecular evaluation of Chronic Granulomatous Disease (CGD) and Leukocyte Adhesion Deficiency (LAD).
- Immune Dysregulation & Lymphoproliferative Disorders: Screening for Hemophagocytic Lymphohistiocytosis (HLH), IPEX syndrome, and Autoimmune Lymphoproliferative Syndrome (ALPS).
The Nucleus Genetics Advantage: Combining broad target NGS panels aligned with updated IUIS classification, deep sequence coverage, and multidisciplinary curation by medical geneticists and clinical immunologists, we transform complex genomic data into precise clinical insights.
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