Activated PI3K Delta Syndrome (APDS) is a rare, genetic primary immunodeficiency
If you suspect your patient may have APDS, it’s time to test.
Activated PI3K Delta Syndrome (APDS) is a rare, genetic primary immunodeficiency
If you suspect your patient may have APDS, it’s time to test.
Learn About APDS
APDS is a rare primary immunodeficiency (also known as an inborn error of immunity – IEI), which affects approximately 1-2 people per million. It occurs when there is an autosomal dominant variant in either of two genes, PIK3CD or PIK3R1, which make parts of the PI3K delta protein that helps control the development and function of B and T cells. 1-4
APDS Signs & Symptoms
Signs and symptoms of APDS can start in childhood, and patients are vulnerable to repeat infections and immune dysregulation such as lymphadenopathy, splenomegaly, autoimmune cytopenias, and even lymphoma. 9
Learn more about APDS at allaboutapds-hcp.com
Avoid Misdiagnosis
Get a Definitive Diagnosis
*Onset of all symptoms is heterogenous and typically progressive, varying from patient to patient
Definitively Diagnose APDS With Genetic Testing
The heterogenous signs and symptoms of APDS can often be attributed to other conditions, only leading to more questions. Once suspected, genetic testing can confirm the APDS diagnosis.
That’s why Pharming Healthcare, Inc. has partnered with Invitae to offer no-charge genetic testing and counseling for individuals who are suspected to have APDS.
Early, accurate diagnosis can change a person’s life and help get timely appropriate treatments.
NavigateAPDS is a sponsored, no-charge genetic testing program available to individuals in the U.S. and Canada who meet any two of the bulleted criteria below:
Clinical Features
- Onset of symptoms under 12 years of age
- Documented severe recurrent sinopulmonary infections (>2 events within 3 years of each other)
- Bronchiectasis
- Lymphadenopathy for greater than one month
- Any nodular lymphoid hyperplasia
- Chronic hepatomegaly or chronic splenomegaly
- Severe, persistent, or recurrent Herpesviridae infections (eg, EBV, cytomegalovirus)
- Autoimmune cytopenia
- Enteropathy
- Lymphoma at 0-25 years – meets the 2 eligibility criteria
- Lymphoma at ≥26 years of age – requires second eligibility criteria
Laboratory
- Hypogammaglobulinemia
- Elevated levels of immunoglobulin M
- Reduced number of CD3+CD4+ T cells;
- Increased number of follicular helper T cells
- Reduced number of naïve T cells
History
- Primary Immune Deficiency diagnosis
- Common Variable Immune Deficiency (CVID) phenotype or direct family member with CVID phenotype
- Relative with PIK3CD or PIK3R1 genotype (first or second degree)
Ordering Multiple Tests for Family Members?
Get Free Test Kits:
(OCD-100) Buccal Swabs
collection tube
No-Charge Genetic Counseling Is Available
Both Before and After Testing
Visit the GeneMatters website to Learn More
Book Genetic Counseling
There are two ways to access genetic counseling as part of the navigateAPDS program.
Option 1
Physicians can ‘check’ the box on the Invitae Test Requisition Form on the bottom of page 1, authorizing Invitae to share the necessary information with GeneMatters to complete the post-genetic counseling.
Option 2
Complete and fax the separate referral form provided below, requesting pre- and/or post-test genetic counseling.
Learn more about APDS at
While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing and counseling are available in the US and Canada only. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Invitae or from third parties or commercial organizations.
