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| C-KIT Mutation Analysis, Cell Based | ||
| Order Code: CKIT
Epic Lab Code: LAB2876 Order Form: A-1a Miscellaneous Request or Epic Req |
Commercial "Mail-out" Laboratory 6240 RCP 356-3527 |
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Specimen: |
Whole blood | ||
Collection Medium: |
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Alternate Collection Media: |
Green top tube (Na Heparin), Yellow top tube (ACD solution B) | ||
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 | ||
Reference Range: |
Negative | ||
Comments: |
Positive C-KIT mutation is most likely associated with Mastocytosis. Activating mutations in c-kit can be detected in the bone marrow, peripheral blood, plasma and lesional skin in patients with systemic mastocytosis. These mutations most commonly involve codon 816 of the intracellular tyrosine kinase domain (D816V, D816Y, D816F or D816H) and cause ligand-independent autophosphorylation of the receptor. An additional mutation in codon 560 within the juxtamembrane domain of Kit, yielding a V560G substitution has also been detected in the human mast cell leukemia line HMC-1 and in some patient with mastocytosis. It has been found that almost all sporadic adult mastocytosis patients carry codon 816 somatic mutation regardless of the classification or the prognosis of their disease. However these mutations have been found only rarely in children with progressive mastocytosis and not in familial mastocytosis. | ||
Methodology: |
Polymerase Chain Reaction/Sequencing (PCR) | ||
CPT Code: |
83891, 83898(x5), 83904(x10), 83909(x10), 83892(x5), and 83912 |
Updated: 07/01/2009
Note: The information contained in this handbook is for use by personnel of University of Iowa Health Care. No other use is implied or intended.