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IDH1 and IDH2 Mutation Detection

IDH1-IDH2
Example Reports
Negative
Positive

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Additional Technical Information

Ordering Recommendation

Use to detect IDH1 and IDH2 mutations. IDH1 and IDH2 mutation status may be useful for diagnosis, prognosis, and determination of eligibility for targeted therapy in certain solid tumors, including central nervous system tumors and cholangiocarcinoma. 

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Tumor tissue

Specimen Preparation

Tumor Tissue: Formalin fix (10 percent neutral buffered formalin, not decalcified) and paraffin embedded tissue with at least 20 percent tumor burden. Protect from excessive heat. Tissue block will be returned after testing. Transport tissue block or 8 unstained 5 micron slides. (Min: 5 slides).
Transport block and/or slide(s) in a tissue transport kit (ARUP Supply # 47808) available online through eSupply using ARUP Connect or contact ARUP Client Services at 800-522-2787.

New York State Clients: Transport tissue (Formalin-fixed, paraffin embedded) or 10 unstained, nonbaked slides and 1 slide stained with hematoxylin and eosin .

Storage/Transport Temperature

Room temperature. Also acceptable: Refrigerated. Ship in cooled container during summer months.

Unacceptable Conditions

Less than 20 percent tumor. Specimens fixed in any fixative other than 10 percent neutral buffered formalin. Decalcified specimens (except in EDTA). Decalcified specimens in EDTA will require a client approved disclaimer.

Remarks

Include surgical pathology report.
If multiple specimens (blocks or slides) are sent to ARUP, they must be accompanied by one of the following: an order comment indicating that the ARUP pathologist should choose the specimen most appropriate for testing (e.g., "Choose best block"), or individual orders for each sample submitted. A Pathologist Block Selection Fee (ARUP test code 3002076) will be added to orders that utilize the first option. If multiple specimens are sent to ARUP without a request for pathologist block/slide selection or individual orders, they will be held until clarification is provided.

Our pathologists will review every case to determine if there is an adequate tumor area for testing. Submitted specimens should contain >20 percent tumor. Specimens may be canceled, and a new block requested if there is not an acceptable area for extraction or if block/tissue has been decalcified (except in EDTA).

Samples that produce less than the optimal concentration of DNA input and/or samples decalcified in EDTA will require a disclaimer for testing or be canceled.

Stability

Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

Interpretive Data



Compliance Category

Laboratory Developed Test (LDT)

Note

Hotspots Tested: IDH1 (NM_005896) exon 4 and IDH2 (NM_002168) exon 4. See Additional Technical Information for more information.

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
05/03/2024
X
N/A

CPT Codes

81120; 81121

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Components

Component Test Code* Component Chart Name LOINC
2002148 Block ID 57723-9
3017528 IDH1-IDH2 Int 35474-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Cholangiocarcinoma
  • Chondrosarcoma
  • Glioblastoma
  • Glioma
IDH1 and IDH2 Mutation Detection