Sponsored diagnostic testing programs for Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder characterized by oculocutaneous albinism, bleeding tendencies due to platelet dysfunction, and, in some subtypes, progressive lung or bowel disease. Severity varies by subtype, and symptoms often progress over time.
2 programs found for Hermansky-Pudlak 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.
