Immunology Genetic Panel
Primary immunodeficiency screening
What is this test?
Our Immunology Genetic Panel screens over 400 genes associated with primary immunodeficiency disorders (PIDs) and immune dysregulation syndromes. Early genetic diagnosis of PIDs is critical — it can guide life-saving treatments including targeted immunotherapy, hematopoietic stem cell transplantation, and gene therapy, while also preventing diagnostic delays that leave patients vulnerable to severe infections.
Key Benefits
PID patients average 5+ years to diagnosis. A single genetic test can provide a definitive answer and end years of unexplained infections.
Many severe PIDs are curable with hematopoietic stem cell transplant. A genetic diagnosis is essential for treatment planning and donor selection.
Gene therapies are now available or in trials for ADA-SCID, X-SCID, WAS, and CGD. A molecular diagnosis determines eligibility.
Once the causative variant is identified, siblings and at-risk family members can be rapidly screened to enable early intervention.
How It Works
Your immunologist or pediatrician orders the test based on clinical features and laboratory immune workup.
A blood sample is drawn. Stat processing is available for critically ill or pre-transplant patients.
400+ immune-related genes are sequenced with high coverage, including known hotspot regions and CNV analysis.
Variants are analyzed by molecular geneticists with PID expertise, correlating genotype with immune phenotype and flow cytometry data.
Report includes molecular diagnosis, treatment implications (e.g., transplant eligibility, gene therapy candidacy), and management recommendations.
Who should consider this test?
- Children with recurrent, severe, or unusual infections
- Patients with suspected primary immunodeficiency (PID)
- Individuals with autoimmune cytopenias or lymphoproliferation
- Families with a history of immune deficiency or early childhood death from infection
- Patients being evaluated for stem cell transplant or gene therapy eligibility
Conditions Screened
Accuracy & Clinical Evidence
>99% analytical sensitivity for SNVs and small indels in targeted coding regions
The IUIS (International Union of Immunological Societies) recognizes over 485 inborn errors of immunity with known genetic causes. Newborn screening for SCID via TREC assay is now standard in many countries, with genetic confirmation essential for guiding definitive therapy. Survival rates for SCID exceed 90% when stem cell transplant is performed before 3.5 months of age.
Scientific Detail
The panel targets all coding exons and ±20 bp flanking intronic regions of 400+ genes classified in the IUIS 2022 classification of inborn errors of immunity. Bioinformatic analysis includes BWA-MEM2 alignment, GATK variant calling, and CNV detection via ExomeDepth. X-linked variants in males receive specialized hemizygous calling parameters.
For Healthcare Providers
This panel covers 400+ genes on the IUIS classification of inborn errors of immunity. Sequencing achieves >100x mean coverage on Illumina platform. CNV analysis is included for all targeted genes. X-linked gene coverage is optimized for male hemizygous variant detection. Flow cytometry correlation is provided when clinical data is submitted. Reflex to WES/WGS is available.
Important Limitations
- Somatic variants causing immune dysregulation (e.g., somatic STAT3 GOF) may require paired tissue analysis for detection.
- Some PIDs are caused by epigenetic or regulatory variants not covered by exonic sequencing.
- Complement component genes (C4A/C4B) have complex copy number variation that may require specialized assays.
- Variants of uncertain significance are common in large immune gene panels and may require functional validation.
- This panel does not assess HLA typing or adaptive immune receptor repertoire diversity.
Frequently Asked Questions
Test Details
Interested in this test?
Speak with our team to learn more about ordering this test or to get a consultation.
Get Started