Hematologic Diseases

KIT mutations are present in the majority of cases of mast cell disease/systemic mastocytosis. Patient DNA is isolated and subjected to allele-specific polymerase chain reaction (PCR) amplification.

disease state indication(s)

clinical use
Mastocytosis is a myeloproliferative neoplasm (MPN) due to a clonal neoplastic proliferation of mast cells that accumulate in one or more organ systems. Detection of the KIT D816V mutation is included as a minor diagnostic criteria for systemic mastocytosis in the World Health Organization (WHO) classification of hematopoietic neoplasms, and it is also of therapeutic relevance as it confers resistance to imatinib, a drug commonly used to treat MPN.

methodology/product platform
Polymerase chain reaction (PCR)

specimen type and requirements
Peripheral blood: 2-3 mL in EDTA (purple-top) tube.
Bone marrow: 2-3 mL in EDTA (purple-top) tube.
Use refrigerated cold pack for transport. Make sure cold pack is not in direct contact with specimen.

turnaround time
7-10 days

cpt code(s)
81273 (x1)

medicare moldx cpt code
Not applicable

regulatory classification
Laboratory developed test (LDT)

ordering option
Global (TC & PC)