Specimen

Whole blood

Collection Medium:

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/bone marrow collected in a lavender 
top (EDTA) tube
Absolute minimum: 1 mL whole blood/bone marrow 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(x2), 83904(x2), 83909, 83892, 83912