c-KIT Mutation Analysis, Cell Based

19961

3 mL whole blood collected in an EDTA (lavender-top) tube or formalin fixed paraffin embedded tissue

1 mL

Bone marrow (refrigerated preferred transport) • 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: 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.

EDTA (lavender-top) tube or formalin fixed paraffin embedded tissue block

Room temperature

Whole blood and bone marrow
Room temperature: 7 days
Refrigerated: 14 days
Frozen: Unacceptable

Tissue
Room temperature: Indefinite
Refrigerated: Indefinite
Frozen: Do not freeze

Received frozen

Mon, thurs

3-4 days

Not detected

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.