IDH1/IDH2 Mutation Analysis by PCR

Code
MOG-IMAX-03AZ
Test
Active-Compendium
81120, 81121
81479
Clinical
Oncology,Pathology
<p><b>Bone Marrow Aspirate:</b> 2 mL in EDTA tube.<br>
<b>Peripheral Blood:</b> 5 mL in EDTA tube.<br>
<b>H&E slide (required) plus paraffin block.</b><br>
<b>Cut Slides:</b> H&E slide (required) plus 5-10 unstained slides cut at 5+ microns.<br>
<b>Note on FFPE:</b> Paraffin block is preferred. Do not use zinc fixatives. If submitting slides, please use positively-charged slides and 10% NBF fixative. Block and slide identifiers should be clearly written and match exactly with the specimen ID and specimen labeling as noted on the requisition.<br>
<b>Note:</b> Test is DNA-based. Please select Extract & Hold - DNA if specimen hold service is desired.</p>
Flag Active
True
Orderable Test Description
<p>This is a real-time PCR test that detects of mutations in IDH1 at codons R132X and R100Q and at IDH2 codons R140X and R172X. IDH1 and IDH2 are analyzed concurrently.</p>
Orderable Turn Around Time
5 Days
Meta Description
Detection 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.
Orderable Biomarkers
NY Approved
True
Orderable Biomarkers JSON
{"DNA Sequencing": {"SNVs + Indels": ["IDH1", "IDH2"]}}
Keywords string
idh1, idh2, Molecular , IDH IDH1/IDH2 Mutation Analysis by PCR
Title URL
idh1-idh2-mutation-analysis-by-pcr
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.
Storage and transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature. Please select extract & hold - DNA if specimen hold service is desired. NYS clients please provide date and time of collection.