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IDH1/IDH2 Mutation Analysis by PCR
MessageDetection of mutations at IDH1 codons R132X and R100Q and at IDH2 codons R140X and R172X is performed using real-time PCR. IDH1 and IDH2 are analyzed concurrently. For solid tumors, tumor enrichment is performed before extraction.
Test Code
LAB6497
Alias/See Also
IDH1 Mutation Analysis, IDH2 Mutation Analysis
CPT Codes
81120, 81121
Preferred Specimen
Peripheral blood: 5 mL in EDTA tube.
Bone marrow: 2 mL in EDTA tube.
FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Bone marrow: 2 mL in EDTA tube.
FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Methodology
Molecular
Report Available
5 days
Clinical Significance
Mutations in the enzyme isocitrate dehydrogenase 1 (IDH1) and IDH2 genes have been identified in a variety of tumors including central nervous system gliomas, cholangiocarcinoma, acute myeloid leukemia, blast-phase myeloproliferative neoplasms (MPNs) and chronic-phase primary myelofibrosis (PMF). Per professional practice guidelines, testing for IDH mutations has diagnostic and prognostic implications in the workup of gliomas and guides therapy selection in AML. AML patients with IDH mutations may respond to venetoclax-based therapy or IDH inhibitors.
Performing Laboratory
Neogenomics Laboratories