2 - 7 days
KIT c.2447A>T (D816V) Mutation
KIT (D816V) Mutation Shadow
KIT Asp816Val Mutation Analysis
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Allele-specific Polymerase Chain Reaction (PCR) with capillary electrophoresis detection.
This test is used for qualitative detection of the KIT c.2447A>T (D816V) mutation found in most adults (>80%) with systemic mastocytosis. Detection of the KIT D816V mutation can aid in diagnosis of systemic mastocytosis and guide choice of therapy since it is associated with resistance to imatinib mesylate. The KIT D816V mutation also occurs in some cases of acute myelogenous leukemia and seminoma. This test is not intended to detect minimal residual disease.
Interpretive report provided.
Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fixed cytogenetic cell suspensions or pellets in Carnoy’s fixative. Refrigerate and send. For formalin-fixed, paraffin-embedded tissue, a block containing the high percentage of neoplastic cells is preferred. Unstained, UNBAKED slides (5-8, 10-micron slides; 10-15 if few neoplastic cells are present) with associated H&E stained slide are also acceptable. Decalcified tissue or other fixatives will be accepted and the assay attempted, however these may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature.