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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

A genetic diagnosis may impact the way your doctor manages your disease.
According to a recent Jeffrey Model Foundation study of patients with underlying PI (n=119),
following a genetic test:


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? (ie, 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?

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 neutropenia and 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.

Choose navigateAPDS

If you suffer from any two or more of the below symptoms:

  • Ear, Sinus, and Respiratory Tract Infections
  • Chronic Cough
  • Enlarged Tonsils, Lymph Nodes or Spleen
  • Nodules in the Airway or Digestive Tract
  • Herpes Infections
  • Gastrointestinal (Digestive) Tract Issues
  • Autoimmune and Autoinflammatory Disorders
  • Low Numbers of Blood Cells
  • Developmental Delay
  • Lymphoma
Choose PATH4WARD

If you have had an absolute neutrophil count (ANC) of ≤ 1000/μL and neutropenia. Forms of neutropenia can include:

  • Chronic
  • Idiopathic
  • Congenital

Genetic testing programs can be simple to navigate.

1. Check your eligibility

Speak with a clinician to discuss which genetic test may be right for you.

2. 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.

3. 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 info about these programs to take to your healthcare provider.


Thank you to Pharming Healthcare, Inc. and X4 Pharmaceuticals, Inc. for their support of this page

Pharming is a Sponsor x4 is a Sponsor