c-kit Mutation Analysis, Cell-based [19961]

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Test Code

Alias/See Also

CPT Codes

Preferred Specimen
3 mL whole blood or Formalin fixed paraffin embedded tissue. Bone marrow and Cell pellett are acceptable.

Minimum Volume
1 mL

Other Acceptable Specimens
Bone marrow collected in an EDTA (lavender-top) tube • Cell pellet

Submission of whole blood (preferred): Follow standard whole blood Collection procedure. Collect 3-5 mL whole blood samples in EDTA tube. Blood samples are shipped at room temperature or 4 degrees C. Do not freeze whole blood. Record the draw time and date on the tube. Ship immediately to maintain sample stability. Cell Pellet Instructions: This assay is also designed for the remnant cell pellet from Cytogenetics. The cell pellet usually fixed should be transported at room temperature or refrigerated to the laboratory as soon as possible. Please provide a copy of the Cytogenetics report.

Transport Temperature
Whole blood and formalin-fixed paraffin-embedded tissue block: Room temperature
Bone marrow: Refrigerated (cold packs)

Specimen Stability
Whole blood and Bone marrow
Room temperature: 7 days
Refrigerated: 14 days
Frozen: Unacceptable
Room temperature: Indefinitely
Refrigerated: Indefinitely
Frozen: Do not fr

Next Generation Sequencing

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule
Set up Mon, Thurs; Report available: 3 days

Reference Range
Not detected

Clinical Significance
Activating c-KIT mutations have been indentified in various human cancers. c-KIT exon 8 and 17 mutations have been described in patients with CBF-AMLs and usually confer a poor prognosis with increased relapse rate. c-KIT exon 9, 11, 13, 17 mutations have been reported in nearly 90% GIST patients. The presence mutation usually predict poor survival. c-KIT exon 17 mutation has been reported in patients with systemic mastocytosis.

Performing Laboratory
Quest Diagnostics Nichols Institute San Juan Capistrano
33608 Ortega Highway
San Juan Capistrano, CA 92675

Last Updated: December 7, 2021

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.