Combined Immunodeficiency with Syndromic Features

Sponsored diagnostic testing programs for Combined Immunodeficiency with Syndromic Features

Combined Immunodeficiency with Syndromic Features refers to a group of genetic disorders where immune dysfunction occurs alongside additional systemic findings such as neurologic differences, skeletal abnormalities, skin or hair changes, or developmental concerns. These conditions typically involve impaired T-cell function and increase susceptibility to recurrent infections while presenting with recognizable syndromic traits that guide diagnosis.

2 programs found for Combined Immunodeficiency with Syndromic Features

Programs

2 programs
Invitae Unlock™

Invitae Primary Immunodeficiency Panel

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.

Immunology
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