Sponsored, no-charge

genetic testing for faster

diagnosis of rare primary

immunodeficiencies 

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X4 Pharmaceuticals, Inc. has partnered with Invitae to offer third-party sponsored genetic testing at no charge for individuals who may carry a genetic mutation known to be associated with congenital neutropenia.
Primary immunodeficiencies are a group of inherited disorders of the immune system including congential neutropenia and WHIM syndrome.

Program eligibility

Patients who meet the inclusion criteria (below) which suggest congenital neutropenia are invited to take part in the PATH4WARD program.

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Patients must meet the following inclusion criteria:

-Suspicion of congenital neutropenia

AND

-Neutropenia that lasted for more than 6 months (not drug related, including chemotherapy, or secondary to a viral infection) at any point in life with ANC <= 750/uL

Signs and symptoms

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. Molecular 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.

Family variant testing

X4 and Invitae will also offer family variant testing (FVT) for all blood relatives of patients found to have a pathogenic or likely pathogenic variant, at no additional charge within 90 days of the original patient’s test. This service includes full analysis of the gene in which the original family member’s variant was identified.

To place an FVT order, download the paper order form.

Benefits of testing

The benefits of genetic testing include the ability to:

  • Identify risk of disease for patients and their family members
  • Shorten the time to diagnosis and help prevent misdiagnosis
  • Help patients and their physicians consider clinical trial options
  • Provide information about support services such as patient advocacy organizations
     

Program testing options

The PATH4WARD program uses the Invitae Primary Immunodeficiency Panel.  This panel analyzes 407 genes known to be associated with primary immunodeficiency, including the following genes known to be associated with severe congenital neutropenia:

AK2                  CLPB                  ELANE                  HAX1                 LYST                  SRP54                 TNFSF12

AP3B1              CSF3R                G6PC                    HTRA2               RAB27A             STK4                   USB1

CD40                CXCR4               G6PC3                  HYOU1              RMRP                TAZ                     VPS12B

CD40LG           DNAJC21           GATA2                  JAGN1                SLC37A4           TCN2                  VPS45

CEBPE              EFL1                   GFI1                    LAMTOR2           SMARCD2        TIMM50             WAS

Ordering made easy

Place your order Collect a specimen Access results

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

To collect a specimen:

  1. Order a free specimen collection kit
  2. Label the sample tube with the patient's full name, date of birth, and sample collection date
  3. For additional information, please see specimen and shipping requirements
  4. Include the paper order form with your sample

To receive results:

  1. Once Invitae receives the specimen, you will receive the results in 10-21 calendar days, on average
  2. If you create an online account, you can view the status of your order and the sample results by logging into your account.
  3. You will receive a notification email once the test results are ready

Support every step of the way

Client services

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

 

Contact

Sponsored genetic counseling

Individuals tested through the PATH4WARD program are eligible for 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 Invitae at no charge as part of the program.

To schedule a genetic counseling appointment, please contact GeneMatters at 1-866-741-5331 or schedule online at https://www.gene-matters.com using partner code: PATH.

Confidence begins with quality

  • Commitment to quality: Invitae’s >1000 patient peer-reviewed study, published in the Journal Molecular Diagnostics, the official journal of the Association for Molecular Pathology, shows equivalence to established standards.
  • Sample options: blood and saliva kits provided free of charge.
  • Strong team: Invitae has more than 300 experts in genetics, bioinformatics, engineering, technology, and commercial development.

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 a clinical-stage biopharmaceutical company developing novel therapeutics designed to improve immune cell trafficking to treat rare diseases, including primary immunodeficiencies and certain cancers. X4’s oral small molecule drug candidates antagonize the CXCR4 pathway, which plays a central role in immune surveillance. X4’s most advanced product candidate, mavorixafor (X4P-001), is expected to commence a global Phase 3 pivotal trial in patients with WHIM syndrome, a rare genetic, primary immunodeficiency disease, in the second quarter of 2019.

While X4 Pharmaceuticals, Inc. (X4 Pharma) provides financial support for this program, tests and services are performed by independent third parties. Healthcare professionals must confirm that patients meet certain criteria to use the program. X4 Pharma receives de-identified patient data from this program, but at no time does X4 Pharma receive patient identifiable information. X4 Pharma receives contact information for healthcare providers who use this program. Genetic testing is available in the US and Canada only with the potential for expansion into other countries where third party genetic testing is permitted by local rules and regulations. Healthcare professionals who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any X4 Pharma product.

Reference:
1. Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Severe congenital neutropenias. Nat Rev Dis Primers. 2017;3:17032.