Genetic testing is the only way to rule in or rule out WHIM syndrome for patients suffering from low/extremely low white blood cell counts and frequent infections. The specific genetic test, CXCR4 is used to determine if the individual has a defective gene, it is not a full genetic test. Physicians can recommend and/or order this specific genetic test.
X4 Pharmaceuticals and Invitae have partnered to launch PATH4WARD, a new sponsored genetic testing program designed to help diagnose rare primary immunodeficiencies, including severe congenital neutropenia (SCN) and WHIM syndrome. SCN 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. The benefits of genetic testing include the ability to identify risk of disease for patients and their family members and shorten time to diagnosis.
WHIM Genetic Screening Study
The Jeffrey Modell Foundation (JMF), a non-profit organization for primary immunodeficiency diseases, and X4 Pharmaceuticals co-sponsored a genetic screening study to help identify patients who have WHIM syndrome, at no cost to patients or insurance.
CXCR4 genetic testing is also available at cost through other commercial or research laboratories.
For Medical Professionals