IDH1 and IDH2 Mutation Analysis

Minimum 1mL of bone marrow aspirate or peripheral blood in purple top EDTA (preferred) or green top sodium heparin (acceptable). Contact Molecular lab for fresh tissue or other fluid.

Specific mutations in IDH1/2 genes can support the tumor diagnosis and classification for brain tumors.

Mutations in the IDH genes primarily involve codons R132 in IDH1 and R140 and R172 in IDH2 lead tumorigenesis. In central nervous system (CNS) tumors, IDH mutations are a diagnostic molecular biomarker for diffuse gliomas and define two biologically distinct groups: IDH-mutant and IDH-wildtype tumors. IDH mutations are also a molecular biomarker in non-CNS tumors, including acute myeloid leukemia. IDH1 mutant specific inhibitors, including ivosidenib and Enasidenib, which are FDA approved in IDH1/2 mutant acute myeloid leukemia, as well as therapies targeting the altered metabolic pathway resulting from IDH mutations, are currently in clinical development.

Clinical indication, copy of pathology report, and specimen source is required for the assay.

Refrigerated: 5 days;
Ambient (room temperature): 3 days;
Specimen must be received by laboratory within 7 days of collection

Frozen specimen; clotted or grossly hemolyzed specimens; serum; specimens without 2 patient identifiers; serum or plasma, aliquots (previously open containers); specimen that were received >7-days after collection.

Whole blood and bone marrow 1 week