Sitosterolemia

Sponsored diagnostic testing programs for Sitosterolemia

Sitosterolemia is a rare inherited lipid metabolism disorder caused by mutations in ABCG5 or ABCG8, leading to excessive absorption and accumulation of plant sterols. Individuals may develop tendon or tuberous xanthomas, premature cardiovascular disease, and variable hematologic findings.

1 program found for Sitosterolemia

Programs

1 program
Invitae Unlock™

Invitae Inborn Errors of Immunity and Cytopenias Panel

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.

Immunology