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26086 Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis, Tumor (IDH12)

Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis, Tumor (IDH12)
Test Code: IDH12SO
Synonyms/Keywords
IDH1
IDH2
IDH
Isocitrate Dehydrogenase 1
Isocitrate Dehydrogenase 2
Next Gen Sequencing Test
NGS
Astrocytoma
Oligodendroglioma
Diffuse glioma
Glioma
Glioblastoma
AML
Acute myeloid leukemia
IDH12
Test Components

Slide review IDH1 and IDH2 Mutation Analysis

Useful For
Supporting a morphological diagnosis of a diffuse glioma
 
Assisting in central nervous system tumor classification
 
Stratifying prognosis of diffuse gliomas
 
Supporting the differential diagnosis of chondroid bone tumors
 
Stratifying prognosis of acute myeloid leukemia
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
No​ ​Tissue Block ​Formalin-fixed, paraffin-embedded tissue block
​Slides ​1 stained & 10 unstained slides
​Cytology Slides ​1-3 direct smears or ThinPrep
Collection Processing Instructions

Tissue Block: Submit a formalin-fixed, paraffin-embedded tissue block

Slides: Submit 1 slide stained with hematoxylin and eosin and 10 unstained slides (nonbaked, charged slides preferred) with 5-micron thick sections of the tumor tissue.

Cytology Slides: Submit 1-2 slides stained and coverslipped with at least 5,000 total nucleated cells. Cytology slides will not be returned.

 

Pathology report (final or preliminary) must accompany specimen in order for testing to be performed.

Specimen Stability Information
Specimen Type Temperature Time
​Tissue Block/Slides ​Room Temperature (preferred) ​Indefinite
Rejection Criteria

Specimens that have been decalcified (all methods)

Specimens that have not been formalin-fixed, paraffin-embedded

Interference

This test cannot differentiate between somatic and germline alterations. Additional testing may be necessary to clarify the significance of results if there is a potential hereditary risk.

DNA variants of uncertain significance may be identified.

A negative (wild-type) result does not rule out the presence of a variant that may be present but below the limits of detection of this assay.

Point mutations and small insertion/deletion mutations will be detected within targeted regions of the IDH1, and IDH2 genes only. This test does not detect structural variants, genomic copy number changes, or large single or multiexon deletions or duplications in the IDH1 and IDH2 genes.

Rare polymorphisms may be present that could lead to false-negative or false-positive results. Test results should be interpreted in the context of clinical findings, tumor sampling and other laboratory data. If results obtained do not match other clinical or laboratory findings, please contact the laboratory for updated interpretation. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

Reliable results are dependent on adequate specimen collection and processing. This test has been validated on cytology slides and formalin-fixed, paraffin-embedded tissues; other types of fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause PCR failure.

Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories ​Monday through Friday ​12-20 days Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing
Reference Lab
Test Information

IDH1 and IDH2 (IDH) genes encode dehydrogenase enzymes that are involved in cellular glucose metabolism and oxidative damage control. IDH variants, primarily involving codons R132 in IDH1 and R172 in IDH2, result in reduction of the enzyme physiological activity and gain of a neomorphic ability to generate oncometabolite R(-)-2-hydroxyglutarate, which contribute to tumorigenesis by altering numerous cellular responses, including genome-wide epigenetic changes that characterize the glioma CpG island methylator phenotype (G-CIMP). IDH mutations seem to be an early event in gliomagenesis and have been identified in over 70% of lower-grade (grades II/III) diffuse gliomas and secondary glioblastoma. These mutations are rarely seen in other central nervous system tumors and are not seen in reactive non-neoplastic processes, and define a group of lower and high-grade diffuse gliomas associated with a more favorable prognosis. Assessment of IDH mutation status in central nervous system tumors may assist in tumor classification and provide prognostically relevant information for subgroups of patients with diffuse gliomas.

IDH1 and IDH2 gene mutations are also observed in a variety of non-CNS tumor types. Assessment of IDH mutation status may assist in the differential diagnosis of chondroid bone tumors and provide prognostically relevant information in other contexts, such as in the setting of acute myeloid leukemia (AML).

Reference Range Information
See Report
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​81120 ​1
​88381 ​1
​81121 ​1
Synonyms/Keywords
IDH1
IDH2
IDH
Isocitrate Dehydrogenase 1
Isocitrate Dehydrogenase 2
Next Gen Sequencing Test
NGS
Astrocytoma
Oligodendroglioma
Diffuse glioma
Glioma
Glioblastoma
AML
Acute myeloid leukemia
IDH12
Test Components

Slide review IDH1 and IDH2 Mutation Analysis

Ordering Applications
Ordering Application Description
​Centricity ​Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis, Tumor (IDH12)
​Cerner ​Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis, Tumor (IDH12)
​COM ​Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis, Tumor (IDH12)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
No​ ​Tissue Block ​Formalin-fixed, paraffin-embedded tissue block
​Slides ​1 stained & 10 unstained slides
​Cytology Slides ​1-3 direct smears or ThinPrep
Collection Processing

Tissue Block: Submit a formalin-fixed, paraffin-embedded tissue block

Slides: Submit 1 slide stained with hematoxylin and eosin and 10 unstained slides (nonbaked, charged slides preferred) with 5-micron thick sections of the tumor tissue.

Cytology Slides: Submit 1-2 slides stained and coverslipped with at least 5,000 total nucleated cells. Cytology slides will not be returned.

 

Pathology report (final or preliminary) must accompany specimen in order for testing to be performed.

Specimen Stability Information
Specimen Type Temperature Time
​Tissue Block/Slides ​Room Temperature (preferred) ​Indefinite
Rejection Criteria

Specimens that have been decalcified (all methods)

Specimens that have not been formalin-fixed, paraffin-embedded

Interference

This test cannot differentiate between somatic and germline alterations. Additional testing may be necessary to clarify the significance of results if there is a potential hereditary risk.

DNA variants of uncertain significance may be identified.

A negative (wild-type) result does not rule out the presence of a variant that may be present but below the limits of detection of this assay.

Point mutations and small insertion/deletion mutations will be detected within targeted regions of the IDH1, and IDH2 genes only. This test does not detect structural variants, genomic copy number changes, or large single or multiexon deletions or duplications in the IDH1 and IDH2 genes.

Rare polymorphisms may be present that could lead to false-negative or false-positive results. Test results should be interpreted in the context of clinical findings, tumor sampling and other laboratory data. If results obtained do not match other clinical or laboratory findings, please contact the laboratory for updated interpretation. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

Reliable results are dependent on adequate specimen collection and processing. This test has been validated on cytology slides and formalin-fixed, paraffin-embedded tissues; other types of fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause PCR failure.

Useful For
Supporting a morphological diagnosis of a diffuse glioma
 
Assisting in central nervous system tumor classification
 
Stratifying prognosis of diffuse gliomas
 
Supporting the differential diagnosis of chondroid bone tumors
 
Stratifying prognosis of acute myeloid leukemia
Test Components

Slide review IDH1 and IDH2 Mutation Analysis

Reference Range Information
See Report
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories ​Monday through Friday ​12-20 days Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​81120 ​1
​88381 ​1
​81121 ​1
For most current information refer to the Marshfield Laboratory online reference manual.