Sponsored, no-charge genetic testing and counseling for individuals who may carry a genetic mutation known to be associated with congenital neutropenia.

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

Signs and symtoms
  • Congenital neutropenia consists of a heterogeneous group of rare hematological diseases characterized by a selective decrease in circulating neutrophils, impaired maturation or trafficking, and higher risk of recurrent severe infections.1 

  • Congential neutropenia is a rare condition: its prevalence is estimated to be between 3 and 8.5 cases per million individuals. Genetic diagnosis is the best way to confirm the diagnosis, understand the disease, and determine possible treatment options in patients with chronic neutropenia.

  • One example of congenital neutropenia associated with primary immunodeficiency is WHIM syndrome, a rare, autosomal dominant primary immunodeficiency disease caused by mutations in the CXCR4 gene leading to abnormal immune cell trafficking. Patients affected with WHIM may present with Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. In addition, patients may experience frequent upper respiratory tract and systemic infections, often beginning in infancy and leading to life-threatening complications. Potentially fatal infections, such as meningitis and sepsis have been reported. Some patients with WHIM are at a higher risk for EBV-associated T and B cell lymphoproliferative disease and lymphoma. In addition, patients have an increased risk of malignancy due to human papillomavirus (HPV) transformation, leading to carcinoma.

  • Primary immunodeficiencies are a group of inherited disorders of the immune system including congenital neutropenia and WHIM syndrome.

About the PATH4WARD program

Program eligibility

This program is available to patients in the U.S. and Canada who must meet both of the following bulleted criteria below:
●    Suspicion of congenital neutropenia


●   Neutropenia (not drug related, including chemotheraphy, or secondary to a viral infection) ANC </= 750 cell/uL at any point in life

Possible Clinical Manifestations:

●   Familial history of neutropenia 
●   Recurrent or severe infections (e.g. otitis, gingivitis, pneumonia, skin infections, etc.) or bronchiectasis
●   Severe or long-lasting refractory warts or cervical dysplasia/cancer 
●   Extra-hematopoietic manifestations (e.g. central nervous system, pancreas deficiency) or congenital heart abnormalities
●   Hypogammaglobulinemia
●   Lymphopenia
●   Monocytopenia
●   Myelokathexis
●   Absolute Neutrophil Count (ANC) value

Genetic testing with Invitae

Patients tested through the PATH4WARD program are eligible for post-test genetic counseling to help them understand their test results. This service is provided through Gene Matters, a third-party genetic counseling service, and is made available by lnvitae at no charge as part of the program.


Genetic counseling

Patients tested through the PATH4WARD program are eligible for post-test genetic counseling to help them understand their test results. This service is provided through Gene Matters, a third-party genetic counseling service, and is made available by lnvitae at no charge as part of the program.
Patients can schedule a post-test genetic counseling appointment online or by contacting GeneMatters by phone at 1.866.741.5331.
To schedule online, click the link below to get started and use partner code: PATH when prompted

How to order

1. Submit an order

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

To place a paper-based 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. 

Have questions before placing an order for your patient? Invitae provides 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.

Next steps and additional services

Broaden your search with re-requisition

If you don’t find answers with your initial order, 
PATH4WARD 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

Invitae offers no-charge genetic testing for all blood relatives of patients found to have a positive result. 

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

About Invitae

Invitae is a genetic information company whose mission is to bring genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Specializing in genetic diagnostics for hereditary disorders, Invitae is aggregating the world’s genetic tests into a single service with better quality, faster turnaround time, and a lower price than most single-gene tests today.

About X4 Pharmaceuticals, Inc.

X4 is focused on restoring healthy immune system function by developing novel therapeutics for the treatment of rare diseases.

Our first-in-class, oral, small molecule therapeutics are antagonists of chemokine receptor CXCR4, which have the potential to treat a broad range of rare diseases, including primary immunodeficiencies (PIs) and cancer. A number of PIs are attributed to the improper trafficking of immune cells related to the CXCR4 receptor and its ligand CXCL12.

X4 is a global company that is headquartered in Boston, Massachusetts with research offices based in Vienna, Austria. For more information, please visit www.x4pharma.com