KIT Mutation Detection in AML (Exon 17)

Exon 17


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.


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. 


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

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

  • 10 µg of purified DNA, sent on dry ice

  • 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


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.