The NavigateAPDS sponsored testing program is an initiative designed to facilitate the diagnosis and understanding of Activated PI3K Delta Syndrome (APDS) by providing no-cost genetic testing and counseling to individuals suspected of having this rare immunodeficiency disorder. This program aims to identify mutations in the PIK3CD and PIK3R1 genes, which are known to cause APDS, through comprehensive genetic screening. By offering access to genetic testing, NavigateAPDS helps healthcare providers confirm or rule out APDS, enabling appropriate and targeted treatment plans. The program also includes genetic counseling to help patients and their families understand the implications of the genetic results, contributing to better-informed decisions about care and management.
PATH4WARD is a no-charge genetic testing program sponsored by X4 Pharmaceuticals in partnership with Invitae, intended to help diagnose patients suspected of having a congenital neutropenic disorder or a primary immunodeficiency (PID), including WHIM syndrome. The program includes genetic counseling for patients and/or clinicians, as well as family variant testing when applicable.
Systemic Mastocytosis (SM) is a rare disorder characterized by neoplastic proliferation of mast cells driven by the KIT D816V mutation in greater than 90% of cases.1 Early biomarker testing using a non-invasive, highly sensitive, and quantitative KIT D816V test may reduce a patient’s time to diagnosis. This test is provided by Labcorp Oncology for eligible patients at no-charge through the sponsored testing program from Blueprint Medicines.*
