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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The navigateAPDS Program provides clinicians in the US, Canada, and Puerto Rico with free, comprehensive genetic testing for patients clinically suspected of APDS. By analyzing relevant immune genes (PIK3CD, PIK3R1) via Invitae’s PID / Inborn-Immunity panels, the program helps clarify diagnosis, guide immunological management, and support long-term care planning. Free post-test genetic counseling is included for all tested patients.
When to consider this test
Patient selection
- Patient must reside in the US, Canada, or Puerto Rico.
- Patient must meet two or more of the following:
- Clinical features
- Bronchiectasis
- Lymphadenopathy >1 month
- Chronic hepatomegaly or chronic splenomegaly
- Severe, persistent, or recurrent Herpesviridae infections (e.g., EBV, CMV)
- Enteropathy
- Lymphoma at 0–25 years (qualifies automatically)
- Lymphoma at ≥26 years (requires a second criterion)
- Laboratory findings
- Elevated serum IgM
- Increased follicular helper T-cell population
- Reduced naïve B-cell population
- Relevant history
- CVID phenotype or first-degree relative with CVID-like features
- First- or second-degree relative with a PIK3CD or PIK3R1 genotype (qualifies automatically)
Workflow
How to use this program
- 1
Confirm & Order
Discuss testing with the patient, obtain consent, and place the order through Invitae’s online portal.
- 2
Collect Sample
Collect the specimen using an Invitae kit and return it using the included prepaid shipping label (US and Canada).
- 3
Review Results
Access results online and use available resources to guide your follow-up discussion with the patient.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
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
Frequently asked questions
Who is eligible for this program?
Patients in the US, Canada, and Puerto Rico who meet two or more criteria across clinical features, laboratory evidence, or family history associated with APDS. Lymphoma at ages 0–25 meets criteria automatically; age ≥26 requires a second criterion.
What test is performed?
Testing is performed using Invitae’s genetic assay capable of detecting variants in PIK3CD, PIK3R1, and other genes relevant to immune dysregulation and APDS. Full gene details and technical specifications are available in the provider catalog.
How do I order the test?
Orders are placed through Invitae’s online portal. Once submitted, you can provide the Invitae collection kit and return shipping materials to your patient.
How do I collect and return samples?
Use the Invitae kit provided with your order. Samples can be returned using the prepaid label included in the kit from the US or Canada.
How are results delivered?
Results are posted to your Invitae provider portal. You can share them directly with the patient and incorporate findings into clinical decision-making.
Is post-test genetic counseling available?
Yes. Patients tested through the navigateAPDS program are eligible for no-charge post-test genetic counseling provided by Invitae. Patients may schedule online or call 1-800-436-3037 to request an appointment.
See an issue with this program?