navigateAPDS Program
Sponsored genetic testing
US, Canada, and US Territories
What is the Navigate Activated PI3K Delta Syndrome (navigateAPDS) program?
Genetic testing for APDS may bring your patient one step closer to an accurate diagnosis and appropriate clinical management:
- APDS is a rare, progressive primary immunodeficiency.
- Signs and symptoms of APDS typically start in childhood, and patients are vulnerable to repeat infections and autoimmune/inflammatory signs such as lymphoproliferation, splenomegaly, and even lymphoma.
- APDS occurs when there is an abnormality in either one of two specific genes, the PIK3CD gene or the PIK3R1 gene, in an autosomal dominant mode of inheritance. These genes are involved in making parts of a protein that help in the growth and division of white blood cells, particularly the B-cell and T-cell lymphocytes.
- Patients are often misdiagnosed with other immunodeficiencies or autoimmune disorders and have a protracted course to obtain a correct diagnosis. A definitive APDS diagnosis can be made by genetic test.
Program eligibility
This program is available to patients in the US, Canada, and US Territories who meet a miminum of three of the following criteria
Clinical Features:
- Hypogammaglobulinemia
- Autoimmune cytopenia(s)
- Bronchiectasis
- Lymphadenopathy/lymphoproliferation
- Chronic hepatomegaly or chronic splenomegaly
- Severe, persistent, or recurrent Herpesviridae infection (e.g. EBV, CMV, VZV, HSV)
- Recurrent sinopulmonary infections
- Recurrent pneumonia
- Recurrent otitis media
- Nodular mucosal lymphoid hyperplasia
- Autoimmune or inflammatory organ involvement consistent with immune dysregulation (e.g., autoimmune forms of hepatitis, thyroiditis, nephritis, etc)
- Enteropathy (e.g. chronic/recurrent diarrhea, inflammatory bowel disease)
- Lymphoma (0-25 years) – meets the 3 eligibility criteria
- Lymphoma ≥26 years of age – requires 2 additional eligibility criteria
- Non-food related eosinophilic esophagitis
- Developmental delay
- Short stature or history of failure to thrive
Laboratory:
- Elevated levels of Immunoglobulin M (IgM)
- Increased number of follicular helper T cells
- Reduced number of naive B cells
- Increased transitional B-cells
- Inverted CD4/CD8 ratio (low CD4+ T helper cells and high senescent effector/memory CD8+ cells)
- Hyperactive PI3Kδ activity as assessed by phosphorylated AKT and/or phosphorylated S6
History:
- Clinical diagnosis of Activated PI3K-Delta Syndrome (APDS) – meets the 3 eligibility criteria
- Common Variable Immune Deficiency (CVID) phenotype
- Family history of CVID
- Family member with PIK3CD or PIK3R1 pathogenic, likely pathogenic, or VUS result – meets the 3 eligibility criteria
Test options
This program offers testing with the following panels. Learn more about the panels in our test catalog before placing your order on this program page.
How to order
Our easy-to-order panels align with professional guidelines, making your potential next steps clearer.
Step 1
Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.
Step 2
Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada.
Step 3
Receive results online and access resources to guide your discussion with the patient about their results.
Next steps and additional services
Genetic counseling services
Individuals in the US tested through the navigateAPDS Sponsored Genetic Testing Program are eligible for post-test genetic counseling through Genome Medical, a medical practice specializing in telehealth genetic services. Ordering providers must refer the patient using the appropriate check box on the requisition form.