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Man swabs his cheek for a genetic test.

Genetic testing

Genetic testing looks for variants in genes that are known to cause primary immunodeficiency (PI) and may fast-track your diagnosis.

Why get a genetic test for PI?

  • Help you make informed choices about your healthcare.
  • Obtain a quicker diagnosis.
  • Learn the risk for your family members and inform your family planning.
  • Find resources, like patient communities and organizations, specific to your condition.
  • Better understand your options for taking part in clinical research.
family picture for genetic testing page

A genetic diagnosis may impact the way your doctor manages your disease. 

According to a Jeffrey Modell Foundation study of 119 patients with underlying PI, following a genetic test:


of patients received an updated clinical diagnosis.


of patients altered their disease management.


of patients had their treatment changed by their doctors.

This 2020 study published in Immunologic Research demonstrated the cost-efficiency, utility, and importance of genetic testing for patients when working with an expert physician.

Ask your doctor if you may benefit from genetic testing.

A few questions to ask your doctor:

  • Have I had a genetic test? 
  • If I have previously had a genetic test, should I consider retesting since genetic tests have expanded and include over 400+ genes (i.e., a PI panel)?
  • There are no-charge genetic tests available with a doctor’s referral; do I qualify for one? 
  • Could the results of a genetic test alter my treatment management program? 
  • While I understand testing is not for everyone, can you advise why you would not recommend me for a genetic test?
doctor with patients

For people who qualify, there may be a sponsored no-charge genetic testing program available.

There are currently two sponsored, no-charge genetic testing programs available for people who are suspected of having either APDS (activated PI3K delta syndrome) or chronic neutropenia/WHIM syndrome. Both programs include pre- and/or post-genetic counseling services that provide support to help your family better understand the testing process, what to anticipate in terms of results, and what information is needed by your physician. 

Talk to your doctor to determine if you meet the criteria to qualify for either genetic testing program.


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:

  • Bronchiectasis.
  • Lymphadenopathy for greater than one month.
  • Chronic hepatomegaly or chronic splenomegaly.
  • Severe, persistent, or recurrent Herpesviridae infections (e.g., EBV, cytomegalovirus).
  • Enteropathy.
  • Lymphoma at 0-25 years - meets the 2 eligibility criteria.
  • Lymphoma at ≥ 26 years of age - requires second eligibility criteria.


  • Elevated levels of immunoglobulin M (IgM).
  • Increased number of follicular helper T cells.
  • Reduced number of naïve B cells.


  • 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. 
path 4 ward logo

This Path4Ward program is available to patients in the U.S. and Canada who meet all three of the following criteria below:

  1. You suspect you have congenital neutropenia OR a primary immunodeficiency.
  2. You have any prior history or a current absolute neutrophil count (ANC) of less than or equal to 1,000 on multiple occasions (not related to drugs, chemotherapy, or a viral infection).
  3. You have one or more of the following:
  • Repeat and/or severe infections for you or a family member
  • Lymphopenia, or not having enough white blood cells or lymphocytes to help fight infection
  • Hypogammaglobulinemia, or low antibody levels that make it hard to fight infections
  • Warts that are hard to treat or won’t go away
  • A family history of neutropenia

Genetic testing programs can be simple to navigate.

Check your eligibility: Speak with a clinician to discuss which genetic test may be right for you.

Receive your test kit: A test kit will be sent to you, or your doctor. Simply provide either a saliva, cheek, or blood sample and mail the test back to the address provided at no additional cost to you.

Get your results: Once you've discussed your results with your doctor, no-charge genetic counseling is available to you to discuss your results and answer any questions you may have.

Download information about these programs to take to your healthcare provider.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.