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Find out about Activated Phosphoinositide-3 Kinase (PI3K) Delta Syndrome

 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 different medical conditions that occur in people with APDS.¹

Recommended Steps to Diagnose APDS:

Diagnosing APDS diagram HCP
navigateAPDS

Pharming Healthcare, Inc. a pharmaceutical company, has partnered with Invitae to offer sponsored genetic testing and counseling at no charge for individuals who may carry a pathogenic variant in one of two genes known to be associated with Activated PI3K Delta Syndrome (APDS), a rare Primary Immunodeficiency.

The navigateAPDS testing program helps eliminate barriers to genetic testing and increases certainty in obtaining a correct diagnosis by enabling patients suspected of having APDS, and their family members, to have access to genetic testing and counseling.

Here’s how the program works:

If you think you have someone with APDS, test to know.

PROGRAM ELIGIBILITY This program is available to individuals in the US who meet two or more of the following 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 (e.g., EBV, cytomegalovirus)
  • Autoimmune cytopenia
  • Enteropathy
  • Lymphoma 

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 PI3KCD or PIK3R1 genotype (first or second degree) 

 

Download APDS Genetic Testing Form

Download and complete the test requisition form (TRF).

This requisition form can be used to submit an order for the navigateAPDS Sponsored Testing Program, a program for genetic disorders brought to you by Pharming Healthcare, Inc. 

At this stage, navigateAPDS testing is only available in the US.

APDS Testing Program Requisition Form TRF882

TRF and Clinician Information (Program Eligibility, Panel Information, Genetic Counseling and Support)

 

Email within the US –  clientservices@invitae.com

Privacy and the Program

While Pharming provides financial support for this program, all tests and services are performed by Invitae.

Healthcare professionals must confirm that patients meet certain criteria to use the program. Pharming may receive de­-identified patient data from this program, but at no time would they receive patient identifiable information. Pharming 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 lnvitae or Pharming or any other commercial organizations.

For more information, visit www.invitae.com/navigateapds

Stay informed

Sign up for APDS updates

References:

 

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. doi:10.1016/j.gendis.2019.09.015
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.
2017;139(2):597-606.e4. doi:10.1016/j.jaci.2016.06.021