IDH1 and IDH2 Mutation Analysis : 1017060

MDFCPIDH12 or 1017060

Isocitrate Dehydrogenase, IDH, Acute Myeloid Leukemia (AML), Glioma

IDH1 and IDH2 mutations

Preferred specimens
Submit 3-5 mL Blood in an EDTA lavender tube  or in a Sodium Heparin green top tube.
OR
Submit 0.5-1 mL Bone Marrow in an EDTA lavender top tube or  in a Sodium Heparin green top tube.
Do not centrifuge.

Alternative Specimen
Tissue: Paraffin Embedded Tissue block or 5-10 unstained slides

Blood or Bone Marrow: Refrigerated
Paraffine Embedded Tissue/Slides: Room temperature or on ice pack in summer

Blood and Bone Marrow:  15 days refrigerated

Tissue:  Indefinte room temperature or refrigerated

Frozen, clotted, or  grossly hemolyzed blood specimens, and decalcified tissue specimens will be rejected. 

Monday & Wednesday & Friday

3-5 days

Laboratory test results should always be considered in the context of clinical observations. This test was developed and its performance characteristics determined by med fusion. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.

An interpretive report will be provided

IDH1 and IDH2 (Isocitrate dehydrogenase 1 and 2) encode enzymes that catalyze 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 multiple cancers including glioma, cholangiocarcinoma, chondrosarcoma, and myeloid malignancies such as acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). IDH1 and IDH2 mutations are found in approximately 8-12% of AML and >70% of WHO categorized grade II or III gliomas and are associated with unfavorable prognosis and inferior overall survival in AML. Testing for IDH1 and IDH2 mutations in glioma is important for diagnosis and mutations are associated with a more favorable prognosis compared to wild-type tumors. IDH inhibitors have been FDA-approved for multiple cancers including IDH-mutated relapsed or refractory acute myeloid leukemia (AML) and advanced or metastatic IDH1-mutated cholangiocarcinoma.