Sponsored diagnostic testing programs for Activated PI3K-Delta Syndrome
Activated PI3K-Delta Syndrome is a primary immunodeficiency caused by variants in PIK3CD or PIK3R1, leading to immune dysregulation. It typically presents with recurrent infections, lymphoproliferation, and autoimmunity, often beginning in childhood.
3 programs found for Activated PI3K-Delta Syndrome
Invitae Unlock™ Immunology provides clinicians with a comprehensive gene panel to evaluate patients with suspected primary immunodeficiency or immune-regulatory disorders. This no-charge program supports diagnostic clarification, aids in variant-guided care decisions, and can inform family cascade testing when appropriate.
Invitae Unlock Immunology offers sponsored access to the Inborn Errors of Immunity and Cytopenias Panel, Invitae’s most comprehensive assay for evaluating inherited immune disorders and cytopenias. The panel includes genes tied to combined immunodeficiencies, immune dysregulation, and bone marrow failure, supporting clearer diagnosis and management. U.S. providers may order for eligible patients.
The navigateAPDS Program provides clinicians in the US, Canada, and Puerto Rico with free, comprehensive genetic testing for patients clinically suspected of APDS. By analyzing relevant immune genes (PIK3CD, PIK3R1) via Invitae’s PID / Inborn-Immunity panels, the program helps clarify diagnosis, guide immunological management, and support long-term care planning. Free post-test genetic counseling is included for all tested patients.
