KIT Mutation Detection in Mast Cell Disease by Quantitative Droplet Digital PCR

Indication

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.

Methodology

Qualitative mutation detection.

Test Parameters

This quantitative mutation PCR assay will detect mutations in codons 816. The sensitivity of detection is approximately 0.5% fractional abundance of mutated cells in the sample.

Turnaround Time

Five to seven working days

Sample Requirements

• 10-30 ml peripheral blood in lavender top (EDTA) tube, sent on wet ice
  
  or
  
  
• 2-3 ml bone marrow aspirate in EDTA, sent on wet ice
  
  or
  
  
• 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

81402

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.