KIT D816V Build info

Synonyms

  • KIT D816V
  • KIT D816V
  • Systemic Mastocystosis
  • C-KIT
  • LAB12483

Short Name

KIT D816V

Procedure Master Number

LAB12483

Procedure ID

137039

Clinical Info

Systemic mastocytosis is characterized by the infilitration of clonal mast cells in the bone marrow, tissue, liver, and skin. Mutational testing for KIT D816V is a diagnostic tool for systemic mastocytosis because the majority of confirmed diagnoses harbor this mutation. Bone marrow evaluation is the primary diagnostic tool for systemic mastocytosis and provides the most reliable prognosis. Patients that harbor the KIT mutation exhibit resistance to tyrosine kinase inhibitor therapy, such as imatinib. When KIT is mutated in the presence of RUNX1 the patient prognosis is unfavorable.

Specimen Type

Container

Green Top Tube

Collection Instructions

Container/Tube: Lavender(EDTA) Top Tube- Peripheral blood
Dark Green Top- Bone Marrow
Specimen: 5 mL Peripheral Blood
2 mL Bone Marrow
Transport Temperature: Room Temperature

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Pyrosequencing

Days Performed

TAT: 5 -6 Days

Performing Laboratory

BioReference Laboratories

CPT

81273
LOINC Code: 51185-7

PDM

235036

Results
Component Name Base Name Common Name External Name
C-KIT (D816V) CKIT C KIT D816V C-Kit (D816V)