Navigating the genetic landscape of immunology can be overwhelming—especially when it comes to diagnosing primary immunodeficiencies (PIDs). With overlapping symptoms and a growing list of genetic associations, providers often face the challenge of choosing the right test from a sea of options. That’s why we’re updating our menu to streamline the process.
A smarter, clearer test menu
We’re restructuring our immunology test offerings to make them more intuitive and aligned with the latest scientific consensus. Instead of offering numerous small, narrowly focused panels, we’re consolidating them into broader, more comprehensive panels.
These new panels are based on the classification system developed by the International Union of Immunological Societies (IUIS), which organizes PIDs into 10 major categories.
For example, we’ve combined our severe combined immunodeficiency (SCID) and Omenn syndrome panels—along with additional genes highlighted in the latest IUIS report—into a single, robust panel. This allows health care professionals to order one comprehensive test rather than trying to match a patient’s symptoms to a specific phenotype or panel.
We’re continuing to integrate overlapping areas between immunology and hematology. For instance, our PID and malignancy panel reflects the reality that some immunodeficiencies share genetic roots with hematologic malignancies. In fact, we’ve identified patients with undiagnosed blood disorders or malignancies through this testing—highlighting the power of comprehensive genetic analysis.
Organizing by immune function based on IUIS categories
The next-generation sequencing panels were developed using 2024 IUIS phenotype guidelines and the latest genetic research.
The new panels are grouped by overlapping phenotypes and the part of the immune system affected—such as antibody deficiencies, immune dysregulation, autoinflammatory disorders, and complement deficiencies. This approach makes it easier for providers to select the right test based on clinical presentation, rather than trying to interpret complex lab anomalies or phenotypes.
Discover the new panels:
- Antibody Deficiency Panel
- Autoinflammatory Disorders Panel
- Congenital Defects of Phagocytes Panel
- Cellular and Humoral Immunodeficiency Panel
- Complement Deficiencies Panel
- Combined Immunodeficiencies with Syndromic Features Panel
- Immune Dysregulation Panel — now includes UNC13D inversion testing right from the start
- Susceptibility to Infection Panel
And don’t forget our comprehensive PID panels:
- PGmax™ – Inborn Errors of Immunity/Primary Immunodeficiency (PID) Panel
- PGmax – Primary Immunodeficiency and Malignancy Predisposition Panel
Why genetic testing for immune conditions matters
Genetic testing is a cornerstone of precision medicine. As more targeted therapies and gene-based treatments become available, knowing your patient’s exact genetic variant can open the door to more effective, personalized care. It can help guide decisions about bone marrow transplants, symptom management, and even cancer screening protocols.
Genetic testing may help what can be a decades-long diagnostic odyssey, offering clarity, treatment options, and a sense of community through support groups and shared experiences for patients.
Tips for health care professionals
For the best results:
- Provide detailed clinical information. Complete the Clinical Features Checklist or send detailed clinical notes. Include symptoms like fevers, GI issues, or specific lab findings. Providing detailed clinical information allows us to tailor test results to your patient's presentation in phenotype-driven tests like our PGmax offerings.
- Lean on our expertise. Our team of specialists is here to support you in selecting the most appropriate test based on your patient’s clinical presentation. We’re also available to answer questions about testing options, sample requirements, and interpreting results.
- Utilize family testing. Testing other members of the family can help identify possible bone marrow donors or help in reclassifying uncertain variants.