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Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis
Test Code31547
CPT Codes
81120, 81121
Preferred Specimen
5 mL whole blood collected in EDTA (lavender-top) tube, or sodium heparin (green-top) tube
Minimum Volume
3 mL whole blood • 1 mL bone marrow
Other Acceptable Specimens
3 mL bone marrow collected in EDTA (lavender-top) tube, or sodium heparin (green-top) tube
Instructions
Blood specimens should be shipped immediately after collection. Draw date is required to determine the stability of the sample.
DNA must be from CLIA approved laboratory. Other sample types by Medical Review Process and Director approval only.
Cell Pellet Instructions: This assay is also designed for the remnant cell pellet from Cytogenetics. The cell pellet usually fixed should be transported refrigerated to the laboratory as soon as possible. Please provide a copy of the Cytogenetics report.
DNA must be from CLIA approved laboratory. Other sample types by Medical Review Process and Director approval only.
Cell Pellet Instructions: This assay is also designed for the remnant cell pellet from Cytogenetics. The cell pellet usually fixed should be transported refrigerated to the laboratory as soon as possible. Please provide a copy of the Cytogenetics report.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Refrigerated: 7 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Clotted • Gross hemolysis
Methodology
Polymerase Chain Reaction (PCR)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Monday-Sunday Morning
Report available: 3 Days
Report available: 3 Days
Reference Range
| IDH1 | Not Detected |
| IDH2 | Not Detected |
Clinical Significance
IDH1 and IDH2 (Isocitrate dehydrogenase 1 and 2) encode enzymes that catalyzes oxidative decarboxylation of isocitrate into alpha-ketoglutarate (alpha-KG). Gain-of-function mutations in the IDH genes are associated with aberrant conversion of alpha-KG to 2-hydroxyglutarate (2-HG), which is an oncogenic metabolite, and are recurrent in myeloid malignancies and glioma. IDH1 (7-14%) exon 4 and IDH2 exon 4 (8-19%) mutations occur frequently in AML and are found to be associated with unfavorable prognosis and inferior overall survival in some studies. IDH inhibitors have been FDA-approved for IDH-mutated relapsed or refractory acute myeloid leukemia (AML).
