Constitutional Mismatch Repair Deficiency Syndrome (CMMR-D)

Sponsored diagnostic testing programs for Constitutional Mismatch Repair Deficiency Syndrome (CMMR-D)

Constitutional Mismatch Repair Deficiency is a rare inherited cancer-predisposition syndrome caused by biallelic mutations in DNA mismatch repair genes. It leads to a markedly increased risk of childhood cancers, including hematologic malignancies, brain tumors, and early-onset colorectal or gastrointestinal cancers.

1 program found for Constitutional Mismatch Repair Deficiency Syndrome (CMMR-D)

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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Performing labInvitae | Labcorp