Sponsored, no-charge genetic testing and counseling for individuals in the US and Canada who may carry a pathogenic variant associated with Activated PI3K Delta Syndrome (APDS), a rare Primary Immunodeficiency.

Genetic testing for APDS may bring your patient one step closer to an accurate diagnosis and appropriate clinical management:

  • APDS is a rare primary immunodeficiency that affects approximately 1-2 people per million.
  • Signs and symptoms of APDS 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 and may help identify patients for participation in clinical research. 

All about APDS: a quick guide to Activated PI3K Delta Syndrome

Learn more about APDS, common symptoms, current treatment and management, and more. 

LEARN MORE


 

About the navigateAPDS program

Program eligibility

This program is available to patients in the U.S. and Canada who meet any two or more of the following bulleted criteria below:

Clinical Features:
●    Onset of symptoms , < 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

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)

Genetic testing with Invitae

The navigateAPDS program offers testing with the Invitae Primary Immunodeficiency Panel, which analyzes genes that are associated with inherited disorders of the immune system. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication.

VIEW PANEL

How to order

1. Submit an order

To place your online test order, click here and follow the on-screen prompts.

To place a paper-based test order, download the paper order form and include it in the specimen box. 

2. Collect a specimen

If a specimen collection kit was not ordered during the online ordering workflow, order a blood, buccal, or saliva collection kit here
Please view specimen and shipping requirements for important information, and be sure to include the completed requisition form in the kit with the specimen. 

3. Receive results

On average, results are available 10-21 days after Invitae receives the specimen. You will receive a notification email once the test results are ready.
Log in to view the status of your online order. 

Next steps and additional services

Broaden your search with re-requisition

If you don’t find answers with your initial order, 
navigateAPDS includes one re-requisition within 90 days to genes within the original clinical area.

Simply log into your account, navigate to the order, and click "Add rerequisition”

Follow-up testing for familial insights

The navigateAPDS program offers no-charge genetic testing for all blood relatives of patients found to have a pathogenic or likely pathogenic variant of APDS. To qualify, please select the relevant family history criteria, in addition to any other relevant eligibility criteria, when completing a test requisition form and placing an order for a blood relative.

Simply follow the ordering instructions, selecting only the gene(s) you are interested in testing. 

Support every step of the way

Client Services

Available to answer your questions or help you through the testing process.

Clinical Support Services

Licensed, board-certified genetic counselors, ready to support you.

Genetic counseling

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 from 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.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website.


About Pharming Healthcare, Inc.

Pharming Group N.V. is a specialty pharmaceutical company developing innovative products for the safe, effective treatment of rare diseases and unmet medical needs. We are committed to transforming the future for our patients.