navigateAPDS Program
Sponsored, no-charge genetic testing
US and Canada
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 is made by genetic test.
Program eligibility
This program is available to patients in the US and Canada who meet any two or more of the following bulleted criteria below:
Clinical Features:
- Bronchiectasis
- Lymphadenopathy for greater than one month
- Chronic hepatomegaly or chronic splenomegaly
- Severe, persistent, or recurrent Herpesviridae infections (eg, EBV, cytomegalovirus)
- Enteropathy
- Lymphoma at 0-25 years - meets the 2 eligibility criteria
- Lymphoma at ≥ 26 years of age - requires second eligibility criteria
Laboratory:
- Elevated levels of immunoglobulin M
- Increased number of follicular helper T cells
- Reduced number of naïve B cells
History:
- Common Variable Immune Deficiency (CVID) phenotype or direct family member with CVID phenotype
- Relative with PIK3CD or PIK3R1 genotype (first or second degree) - meets the 2 eligibility criteria
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 patient about their results.
Genetic counseling services
Individuals tested through the navigateAPDS program are eligible for both pre-test and post-test genetic counseling to help them understand their test results. This service is provided through GeneMatters, a third-party genetic counseling service, and is made available by Pharming at no-charge as part of the program.
Patients can access genetic counseling by having their healthcare provider:
- Check the post-test counseling section on the Invitae TRF
- Or if not yet requested, complete and fax the separate referral form to GeneMatters, requesting pre- and/or post-test genetic counseling
Patients will be contacted via phone by GeneMatters to schedule an appointment, generally within 24-48 hours of receipt of the faxed referral form.