Exon 17 Kit Mutation Detection in AML

Indication

Activating point mutations in exon 17 of the c-kit receptor tyrosine kinase are found in 5-25% of cases with t(8;21)and inv16-bearing acute myeloid leukemia. Presence of this mutation may confer an adverse prognosis or increased relapse rate.

Methodology

PCR-based DNA Sanger sequencing.

Test Parameters

This sequence assay will detect mutations in exon 17 of KIT, including codons 816-829, 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
  
  or
  
  
• 2-3 ml bone marrow aspirate in EDTA, sent on wet ice
  
  or
  
  
• 10 µg of purified DNA, sent on dry ice
  
  or
  
  
• Slices from formalin-fixed, paraffin embedded tissue blocks containing adequate amounts of tumor to be analyzed (see above sensitivity)

CPT Codes

83890 (DNA Isolation), 83898 x 1, 83904 x 1), 83912