KIT D816V Mutation Detection Blood




Test Mnemonic

K816PB

CPT Codes

  • 81273 - QTY (1)

Aliases

  • Mastocytosis KIT D816V Blood

Performing Laboratory

Cleveland Clinic Laboratories


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
4 mLWhole bloodEDTA (Lavender)AmbientRefrigerated 

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
1 mL     

Stability

Environmental Condition Description
AmbientUp to 48 hours
RefrigeratedRefrigerate for up to 7 days
FrozenUnacceptable

Days Performed

3 days per week

Turnaround Time

5 days

Methodology

Name Description
Droplet Digital Polymerase Chain Reaction (PCR) 

Reference Range

Clinical Info

This assay uses Droplet Digital PCR to detect the KIT D816V mutation to aid in clinical diagnosis of systemic mastocytosis.

Clinical Limitation

This test is designed to detect only the D816V variant in the KIT gene. Other variants in KIT will not be identified by this test. The lower limit of detection of this assay is approximately 0.1% variant allele fraction (vaf) for the KIT D816V variant. The result cannot be used as a standalone basis for diagnosis of malignancy, and needs to be considered in the context of clinical and morphologic presentation.