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

81479, 88381

Methodology

Next generation sequencing (NGS) of DNA

Turnaround Time

14 days

Sample Tested

Parrafin embedded tissue (see requisition for detailed specimen requirements), whole blood or bone marrow aspirate in EDTA

Forms