IDH1 and IDH2

Purpose: Activating IDH1 R132 and IDH2 R140 and R172 mutations are seen in gliomas, acute myeloid leukemias, cholangiocarcinomas, and a subset of cartilaginous tumors. In gliomas they are seen in a substantial proportion of low grade tumors; in acute myeloid leukemias they may identify tumors with a poor prognosis. In addition, targeted treatment is being developed for these mutations, which result in altered enzyme activity.
CPT Codes: 81403, 88381 (2)
Methodology: PCR-Sanger sequencing of DNA obtained from tumor, blood, or bone marrow specimens.  At least 40% tumor is needed.  Microdissection can be performed to enrich to at least 40% tumor.  At least 40% lesional cells either by morphology (blasts) or flow cytometry at AML diagnosis, or following a diagnosed relapse (this is not a test for MRD). 
Turanaround Time: 14 days
Samples Tested: Parrafin embedded tissue (see requisition for detailed specimen requirements), whole blood or bone marrow aspirate in EDTA
Forms: 1. PGM Oncology Requisition
2. Medicare Advance Beneficiary Notice