Congenital Amegakaryocytic Thrombocytopenia

Sponsored diagnostic testing programs for Congenital Amegakaryocytic Thrombocytopenia

Congenital Amegakaryocytic Thrombocytopenia is a rare inherited disorder characterized by severely low platelet counts due to absent or markedly reduced megakaryocytes in the bone marrow. It often presents in infancy and can progress to bone marrow failure.

1 program found for Congenital Amegakaryocytic Thrombocytopenia

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
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