Sponsored diagnostic testing programs for Immunodeficiency-Centromeric instability-Facial Anomalies (ICF) Syndrome
Immunodeficiency–Centromeric Instability–Facial Anomalies (ICF) Syndrome is a rare, inherited primary immunodeficiency marked by low antibody levels, recurrent infections, and characteristic facial features. It is caused by defects in DNA methylation that lead to centromeric instability in immune cells. Children typically present with early, recurrent respiratory or gastrointestinal infections and may have developmental or structural abnormalities. Early diagnosis supports appropriate monitoring and immune management.
2 programs found for Immunodeficiency-Centromeric instability-Facial Anomalies (ICF) 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.
