C-KIT Mutation Analysis, Whole Blood

C-KIT Mutation Analysis

Order Code:	CKITB
Epic Lab Code:	LAB2876
Order Form:	A-1a Miscellaneous Request or Epic Req

Commercial Mail-out Laboratory
6240 RCP
356-3527

Specimen:

Whole Blood

Collection Medium:

Lavender top tube 3 mL (EDTA)

Minimum:

Note: Sample viability 72 hours refrigerated. Sample MUST reach Mailouts by Friday noon to meet courier pickup. Preferred Minimum: 3 mL whole blood collected in a lavender top (EDTA) tube Absolute Minimum: 1 mL whole blood collected in a lavender top (EDTA) tube

Analytic Time:

2 weeks upon receipt at reference laboratory

Reference Range:

Not Detected

Comments:

Activating c-kit mutations have been identified in various human cancers. The mutations are not detected in normal individuals. 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 90% GIST patients. The presence of a mutation usually predicts poor survival. C-kit exon 17 mutation has been reported in patients with systemic mastocytosis.

Except for D816V mutation, most other mutations are believed to be sensitive to Gleevec therapy.

All exons are sequenced and reported if detected.

Methodology:

Polymerase Chain Reaction/Sequencing (PCR)

CPT Code:

83891, 83898(x5), 83904(x10), 83909(x10), and 83892(x5)