Primary Immunodeficiency Panel
Genetic insight into causes of immune dysfunction
Introduction
Genetic Insight into Immune Disorders
This panel analyzes genes associated with Primary Immunodeficiencies (PIs)—a group of inherited conditions where components of the immune system are absent or dysfunctional. Individuals with PIs often experience recurrent, severe, or unusual infections, and may also face risks of autoimmunity or malignancy. Early genetic diagnosis supports timely treatment, including immunoglobulin therapy or stem cell transplantation, and informs family risk and carrier status.
Why the Test Is Significant
Enables Early Diagnosis
Helps prevent severe, recurrent, or life-threatening infections
Guides Treatment Decisions
Informs use of therapies like IVIG, HSCT, or targeted treatments
Aids Prevention Planning
Shapes infection control and vaccine strategies
Informs Family Risk
Enables carrier screening and reproductive decision-making
Unknown and Interesting Facts
Over 450 distinct Primary Immunodeficiency (PI) disorders have been identified, many of which extend beyond the classic presentation of frequent infections. Some PIs manifest predominantly through autoimmune symptoms, chronic inflammation, or even malignancies. These overlapping features often delay diagnosis. Genetic testing is now a key tool in uncovering rare immune system defects, enabling earlier intervention and tailored therapies that can transform long-term outcomes and quality of life.
Medical Necessity and Signs/Symptoms
- Recurrent pneumonia, sinusitis, or ear infections
- Infections from unusual or opportunistic organisms
- Failure to thrive or gain weight in infants
- Persistent oral thrush or recurring skin abscesses
- Family history of PI or early deaths from infections
- Chronic diarrhea or inflammatory bowel-like symptoms
- Delayed recovery from common illnesses
- Symptoms listed under Jeffrey Modell Foundation’s 10 Warning Signs
Post-Test Support
Elite Clinical Laboratory offers detailed interpretation of PI-related findings, supporting accurate and timely diagnoses. We coordinate with immunologists and certified genetic counselors to guide treatment planning—whether it involves immunoglobulin therapy, bone marrow transplantation, or long-term monitoring. Our approach ensures providers have the context needed to deliver comprehensive care and counsel families on risk, inheritance, and next steps for managing these often-complex conditions.