APDS is inherited in an autosomal dominant manner, meaning that a person needs an abnormal gene from only one parent to potentially have it themselves.
Other family members may also show similar or the same related medical conditions.¹
Recommended Steps to Diagnose APDS:
Access the APDS Testing Program
Here’s how the program works:
Pharming is sponsoring third-party diagnostic testing for APDS.
If you think you may have a patient, test to know.
Download and complete the Test Request materials.
In the US
APDS Testing Request (link)
TRF and Clinician Information (link)
Outside of the US
APDS TRF and Clinician
Collect sample per the Test
Request Form Instructions.
Information for TRF (link)
Send the sample to a
Please refer to the respective test request and specimen handling forms for each participating institution to place an order.
The Test Request Form (TRF) for each participating institution contains laboratory-specific specimen requirements and shipping information.To request further information, email us at xxxxxxxxxxxxxxxxxxx
Privacy and the Program
While Pharming provides financial support for this program, all tests and services are performed by the selected third-party. Pharming receives contact information for healthcare professionals who submit tests under this program and limited de-identified aggregate data.
Additional laboratories may also offer APDS testing.
For more information, visit xxxxxxxx
Learn more about the APDS Testing Program
Download an information sheet about how to identify and diagnose APDS, including a listing of labs in the US who offer testing.
Sign up for updates about APDS
1. Jamee M, Moniri S, Zaki-Dizaji M, et al. Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review [published online ahead of print, 2019 May 21]. Clin Rev Allergy Immunol. 2019;10.1007/s12016-019-08738-9. doi:10.1007/s12016-019-08738-9
2. Singh A, Joshi V, Jindal AK, Mathew B, Rawat A. An updated review on activated PI3 kinase delta syndrome (APDS). Genes Dis. 2019;7(1):67-74. Published 2019 Oct 14.
3. Coulter TI, Chandra A, Bacon CM, et al. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study. J Allergy Clin Immunol.