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Test Code MISC1WARDE19961 c-KIT Mutation Analysis - Cell Based

Department

SEND OUTS

Reference Lab Test Number

19961

Collection Requirements

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

Alternative Specimens:

Bone marrow (refrigerated preferred transport)

Cell pellet

Refer To

Warde To Quest

Primary Collection Container

Lavender 6 mL (K3EDTA)

Transport

Whole blood ambient

Preferred Transport Temperature

Ambient

Stability

Whole blood and bone marrow

Ambient: 7 days

Refrigerated: 14 days

Frozen: Unacceptable

Tissue

Ambient: Indefinite

Refrigerated: Indefinite

Frozen: Do not freeze

Minimum Testing Volume

1 mL

Reference Range

Not detected.

Methodology

Polymerase Chain Reaction (PCR) • Sequencing

Performed

Monday

Reported

16-18 days

CPT Codes

81404

Unacceptable Conditions

Received frozen.

Additional Information

Testing forwarded to Quest Diagnosits by Warde Medical Laboratory.

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.