KIT Mutation Detection in AML (Exon 17)

Indication

Activating point mutations in exon 17 of the KIT receptor tyrosine kinase are found in 5-25% of t(8;21) and inv16-bearing acute myeloid leukemia (AML), as well as rarely in other variants. Presence of these mutations may confer an adverse prognosis or increased relapse rate.

Methodology

PCR-based DNA Sanger sequencing

Test Parameters

This sequencing assay will detect mutations in exon 17 of KIT, which are the sites of the previously reported KIT mutations in AML. 

Sensitivity

The sensitivity of detection is approximately one mutated cell per five total cells in sample (20%).

Turnaround Time

Five to seven working days

Sample Requirements

• 10 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
  
• 10 µg of purified DNA, sent on dry ice
  
  or
  
• Four to five unstained slides (or tissue slices) from formalin-fixed, paraffin embedded tissue blocks containing adequate amounts of tumor to be analyzed (See Sensitivity.)

Please provide a copy of the corresponding pathology report.

CPT Codes

81404

Additional charges will 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.