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, sponsored by Pharming Healthcare, Inc., provides no-cost comprehensive genetic testing for patients in the US with clinical suspicion for Activated PI3K-Delta Syndrome. By covering the Invitae Primary Immunodeficiency Panel at no charge, the program removes a common barrier to definitive molecular diagnosis of APDS, enabling earlier therapeutic decision-making and long-term management planning. Complimentary post-test genetic counseling is included for all tested patients.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Resides in the United States
- Clinical suspicion for an inborn error of immunity, including primary immunodeficiencies and primary immune regulatory disorders
- One or more of the following criteria:
- Hematological, immunological, lymphoid, rheumatologic
- Athymia
- Autoimmune hemolytic anemia / autoimmune cytopenia / immune thrombocytopenia
- Autoinflammatory condition
- Bone marrow hypocellularity
- Bone marrow failure
- Hemophagocytosis
- Lymphadenopathy
- Lymphoma (specify age and cell type)
- Leukemia (specify age and cell type)
- Myelokathexis
- Opportunistic infections (list)
- Recurrent infections (bacterial, fungal, or viral)
- Recurrent/periodic fevers
- Rheumatoid arthritis, juvenile onset
- Poor response to treatment for infections
- Severe combined immunodeficiency (SCID)
- Usually mild childhood disease which has worsened or has become life-threatening
- Dermatology
- Telangiectasias
- Recalcitrant warts
- Molluscum, severe
- Severe, recurrent skin infections
- Scleroderma
- Pulmonary
- Bronchiectasis
- Interstitial lung disease
- Pulmonary fibrosis
- Gastrointestinal
- Chronic hepatomegaly
- Chronic splenomegaly
- Very early onset inflammatory bowel disease, onset <6 yrs of age
- Protein-losing enteropathy
- Laboratory
- Abnormal immunoglobulins
- Abnormal oxidative burst
- Abnormal response to vaccines
- Abnormal T cell proliferation
- Abnormal T cell subsets
- Absent/low TRECs on SCID newborn screening
- Absent perforin staining
- Agammaglobulinemia/hypogammaglobulinemia
- Autoimmune hemolytic anemia
- Elevated levels of immunoglobulin M
- Increased chromosomal breakage
- Increased inflammatory markers (specify type)
- Increased interleukin-2 soluble receptor alpha (IL2Ra)
- Increased activated T cell number
- Low pneumococcal vaccine titers
- Neutropenia
- Oligoclonal T cells
- Pancytopenia
- Reduced B cell subset(s) (specify type)
- Reduced number of T cells
- Short telomere length
- Thrombocytopenia
- Transplacentally acquired maternal engraftment of T cells
- Family history: relative with an inborn error of immunity and positive genetic test results
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
Which patients are appropriate for the navigateAPDS Activated PI3K-Delta Syndrome testing program?
The navigateAPDS program is designed for patients with clinical features suggestive of primary immunodeficiency, including but not limited to hypogammaglobulinemia, abnormal T cell subsets or proliferation, elevated IgM, neutropenia, thrombocytopenia, abnormal vaccine responses, and reduced B cell subsets. Patients must meet the program's eligibility criteria. Ordering through the program carries no prescribing or purchase obligation.
What does the navigateAPDS genetic test panel cover and what methodology is used?
The navigateAPDS program utilizes the Invitae Primary Immunodeficiency Panel, a 429-gene NGS-based panel that includes key immune-regulation genes such as PIK3CD and PIK3R1. Testing is performed by Invitae at Labcorp. This comprehensive panel can help differentiate APDS from other inborn errors of immunity with overlapping phenotypes.
What specimen types are accepted and what is the turnaround time for navigateAPDS APDS testing?
The navigateAPDS program accepts whole blood, saliva, buccal swab, or extracted gDNA. Turnaround time is 10 to 21 days from specimen receipt. Specimen collection kits can be ordered through the Invitae platform.
Is there any cost or obligation associated with ordering through the navigateAPDS program?
There is no cost to the patient or the ordering clinician. Pharming Healthcare, Inc. sponsors the full cost of testing, including the 429-gene panel and post-test genetic counseling. Ordering through the navigateAPDS program carries no prescribing or purchase obligation of any kind.
Is post-test genetic counseling available through the navigateAPDS Activated PI3K-Delta Syndrome program?
Yes, the navigateAPDS program includes complimentary post-test genetic counseling for all tested patients. This service can support result interpretation, family variant discussions, and care planning. Counseling is provided at no cost as part of the sponsored program.
Which patients are eligible for navigateAPDS Activated PI3K-Delta Syndrome genetic testing?
Patients may qualify for navigateAPDS if they meet the program's eligibility criteria:
- 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)
- Clinical features
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