KIT Mutation Detection in Mast Cell Disease (Qualitative)



Activating point mutations at codon 816 in the KIT receptor tyrosine kinase are seen in the majority of patients with systemic mast cell disease and can help in diagnosis of this disorder.


Qualitative mutation detection.

Test Parameters

This qualitative mutation PCR assay will detect mutations in codons 816. The sensitivity of detection is approximately one mutated cell per 100 cells in sample (1%).

Turnaround Time

Five to seven working days

Sample Requirements

  • 10-30 ml peripheral blood in lavender top (EDTA) tube, sent on wet ice


  • 2-3 ml bone marrow aspirate in EDTA, sent on wet ice


  • Slices from formalin-fixed, paraffin embedded tissue blocks containing adequate amounts of tumor to be analyzed (see above sensitivity)

Please provide a copy of the corresponding pathology report.

CPT Codes


Additional charges may apply for tissue extraction.

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.