Veripath Test Directory

Epic Test Name IDH1/IDH2 Mutation Analysis
Synonyms Isocitrate Dehydrogenase 1 and 2
Description Mutations of isocitrate dehydrogenase 1 (IDH 1) or 2 can be seen in high grade gliomas and secondary glioblastomas and are associated with a better overall prognosis than wild type cases.
IDH mutations are seen in up to 35% of adult AML cases.
Mutations in gliomas and AML are nearly always at either codon 132 of IDH1 or codon 140 or 172 of IDH2
Specimen Requirements 
Specimen Type
Preferred Collection Volume
Minimum Collection Volume
Collection Instructions Glioma: 5 unstained 10-micron thick paraffinized tissue slides with tumor cells constituting at least 25% of all cells; 1 corresponding H&E slide
Leukemia: 2.0 mL of whole blood or bone marrow fluid (not decalcified core) in EDTA with >20% blasts
Specimen Handling
Rejection Criteria Tissue fixed in mercury-containing formalin (eg,Zenker's) insufficient or undisectable tumor cells in paraffin block; specimens with <25% tumor cells present; decalcified bone marrow cores, heparinized blood or bone marrow.
Methodology Tumor DNA is harvested from whole blood, bone marrow or microdissected unstainded FFPE sections. Multiplex PCR amplification followed by primer extension step and Sequenom mass spectrometry.
Reference Range No Mutation Detected
CPT Code(s) 81403x2, 88387 or 88381 if tissue specimens
Department Molecular Diagnostics
Contact Information Lab: (214)-648-0960 or Toll free (877)-887-8136
Turn Around TimeInternal Cases: <14 days from order or biopsy date, whichever is later; External Cases: <7 days from order date or receipt of unstained slides, whichever is later.
Performed Weekly
Performed by Molecular Diagnostics Lab
Updated/Reviewed 12/07/2016