Invitae Primary Immunodeficiency Panel
This test analyzes genes linked to primary immunodeficiency, immune dysregulation, and autoinflammatory disorders to support diagnosis and clinical care.
Accessed through the navigateAPDS Sponsored Testing Program•Sponsored by Pharming Healthcare, Inc.•Performed by Invitae | Labcorp
Designed to help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
The navigateAPDS Program offers no-charge genetic testing to people in the US, Canada, and Puerto Rico who may have inherited immune dysfunction linked to Activated PI3K Delta Syndrome (APDS). The test looks at key immune-regulation genes to help confirm diagnosis, guide treatment, and enable access to relevant care. Post-test genetic counseling is also provided at no cost.
Who this may help
Could this be right for you or your family?
- Resides in the US, Canada, or Puerto Rico.
- Must meet two or more of the following:
- Clinical features
- Bronchiectasis
- Lymphadenopathy lasting more than one month
- Chronic hepatomegaly or chronic splenomegaly
- Severe, persistent, or recurrent Herpesviridae infections (e.g., EBV, CMV)
- Enteropathy
- Lymphoma diagnosed between ages 0–25 (meets criteria automatically)
- Lymphoma diagnosed at ≥26 years (requires one additional criterion)
- Laboratory findings
- Elevated immunoglobulin M (IgM)
- Increased follicular helper T cells
- Reduced naïve B cells
- History
- CVID-like phenotype or a direct family member with CVID-like features
- First- or second-degree relative with a PIK3CD or PIK3R1 variant (meets criteria automatically)
What to expect
How the process works
- 1
Discuss Testing
Your provider will review the program, confirm you meet the criteria, and submit the test order through the online portal.
- 2
Give Sample
Provide a specimen using the Invitae collection kit. The kit includes a prepaid label for return shipping from the US or Canada.
- 3
Get Results
Results are delivered to your provider, who will review them with you. Additional resources may be available to support next steps.
Cost & coverage
Understanding potential costs
If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.
Quality & privacy
How your sample and information are handled
Testing is performed by Invitae | Labcorp, a CLIA-certified laboratory (CLIA 05D2040778). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Common questions about this program
What is the navigateAPDS testing program?
This program provides no-charge genetic testing for individuals in the US, Canada, and Puerto Rico who meet at least two qualifying clinical, laboratory, or family-history criteria associated with Activated PI3K Delta Syndrome (APDS).
Who is eligible for testing?
You may qualify if you have two or more features such as bronchiectasis, long-standing lymphadenopathy, chronic organ enlargement, certain viral infections, immune cell abnormalities, CVID-like symptoms, or a family history of APDS-related variants.
What sample is required?
Testing requires a specimen collected using an Invitae kit. Your provider will give you the kit and explain what type of sample will be needed.
How long does it take to get results?
After Invitae receives your specimen, results are typically returned to your healthcare provider in a few weeks. They will review the findings with you.
Is genetic counseling included?
Yes. Individuals tested through the navigateAPDS program are eligible for post-test genetic counseling at no charge. You can schedule online or call Invitae Client Services at 1-800-436-3037 and request a genetic counseling appointment.
Questions to ask your doctor about Invitae Primary Immunodeficiency Panel
- Do you think this test is appropriate for me based on my symptoms and history?
- How could the results of this test change my diagnosis or treatment plan?
- What are the potential limitations of this test that I should understand?
- Should any of my family members also be tested based on my results?
- How will we follow up after the results are available?
Notes
See an issue with this program?