Analytic Time

3 - 10 days

MiChart Code
IDH1 and IDH2 Mutations
Soft Order Code
IDH

Test Updated:

Synonyms

MLABEL
IDH1/2 Mutation Detection
IDH
IDH1 and IDH2 MUTATION DETECTI

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Test Overview

Test Methodology

Polymerase Chain Reaction (PCR) followed by DNA sequence analysis

Test Usage

IDH1 and IDH2 gene mutations occur in a subset of acute myeloid leukemias and in the majority (70-90%) of both WHO grade II-III astroctyomas and oligodendrogliomas and grade IV secondary glioblastomas. In acute myeloid leukemia, IDH mutation may be an adverse prognostic factor in some subclasses of otherwise molecularly favorable-risk disease. The identification of an IDH mutation in a brain biopsy may be diagnostically helpful in distinguishing glioma from reactive gliosis which lacks IDH mutation. In addition, IDH-mutant gliomas have been associated with a better prognosis than gliomas that lack IDH mutations. This test detects all mutations at codon 132 of IDH1 and codons 140 and 172 of IDH2 in blood, bone marrow, and formalin-fixed paraffin-embedded tissue. Blood and bone marrow specimens should contain at least 30% neoplastic cells to enable mutation detection.

Reference Range

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Onsite

Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fixed cytogenetic cell suspensions or pellets in Carnoy’s fixative. Refrigerate and send. For formalin-fixed, paraffin-embedded tissue, a block containing an area with a high percentage of neoplastic cells (for micro-/macro-dissection) is preferred. Unstained, UNBAKED slides (5-8, 10-micron slides; 10-15 if few neoplastic cells are present) with associated H&E stained slide are also acceptable. Decalcified tissue or other fixatives will be accepted and the assay attempted, however these may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature.

Collection Offsite

Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fixed cytogenetic cell suspensions or pellets in Carnoy’s fixative. Refrigerate and send. For formalin-fixed, paraffin-embedded tissue, a block containing an area with a high percentage of neoplastic cells (for micro-/macro-dissection) is preferred. Unstained, UNBAKED slides (5-8, 10-micron slides; 10-15 if few neoplastic cells are present) with associated H&E stained slide are also acceptable. Decalcified tissue or other fixatives will be accepted and the assay attempted, however these may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature.

Lavender Top Tube
Normal Volume
5 mL EDTA (lavender) whole blood; 3 mL EDTA (lavender) bone marrow; Fresh/frozen tissue and fresh aspirates or body fluids; Fresh/frozen tissue and fresh aspirates or body fluids; Fixed cytogenetic cell suspensions or pellets in Carnoy’s fixative; Formalin-fixed, paraffin-embedded tissue.
Extracted DNA is also acceptable if extracted in a CLIA certified laboratory.
Minimum Volume
 

Billing Information

CPT Code
81120, 81121, 88381-TC (if applicable)
Pro Fee Code
 
LOINC
 

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.