Specimen Collection Manual and Test Catalog

3 mL whole blood (minimum 1 mL) or formalin-fixed paraffin-embedded tissue (preferred) or bone marrow or cell pellet

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° 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.

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

Whole blood and Bone marrow: Room temperature: 7 days. Refrigerated: 14 days. Frozen: Unacceptable. 
Tissue: Room temperature: Indefinitely. Refrigerated: Indefinitely. Frozen: Do not freeze.

Quest test code 19961. ckit MA Cell

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.