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Gastrointestinal Stromal Tumor Mutations

GISTMUT
Example Reports
Detected
Not Detected

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Additional Technical Information

Ordering Recommendation

Use to detect activating mutations in KIT and PDGFRA. Predict response to tyrosine kinase inhibitor (TKI) therapy.

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

Formalin fix (10 percent neutral buffered formalin) and paraffin embed tissue.
Diff-Quik- and Papanicolaou-stained cytology smears are also acceptable. Number of slides needed is dependent on the tumor cellularity of the smear. Slide(s) will be destroyed during testing process and will not be returned to client. Protect from excessive heat. Transport block and/or slides in a tissue transport kit (ARUP supply #47808) available online through eSupply using ARUP Connect™ or contact ARUP Client Services at 800-522-2787.
Resections: Transport 8 unstained 5-micron slides. (Min: 5 slides)
Small Biopsies: Transport 15 unstained 5-micron slides. (Min: 10 slides)

New York State Clients: Transport tissue (Formalin-fixed, paraffin embedded) or 10 unstained, nonbaked slides and 1 slide stained with hematoxylin and eosin with at least 20% tumor nuclei.

Storage/Transport Temperature

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

Unacceptable Conditions

Less than 10 percent tumor. Specimens fixed in any fixative other than 10 percent neutral buffered formalin. Decalcified specimens. FNA smears with less than 50 tumor cells.

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.

Stability

Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-12 days

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

A full list of the targeted genes and regions is listed in the Additional Technical 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
09/03/2024
X
N/A

CPT Codes

81272; 81314

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Components

Component Test Code* Component Chart Name LOINC
2002148 Block ID 57723-9
2002673 GIST Interpretation 50398-7
* 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

  • c-KIT
  • c-kit Mutation Analysis in Gastrointestinal Stromal Tumors (GISTs)
  • CD117 KIT
  • cKIT
  • GIST
  • GIST Mutation
  • KIT
  • KIT exons 9, 11, 13, 14, 17, and 18
  • KIT mutation
  • PDGFRA exons 12, 14 and 18
  • PDGFRA Mutation in Gastrointestinal Stromal Tumors (GISTs)
  • TKI resistance
  • TKI sensitivity
Gastrointestinal Stromal Tumor Mutations