Fragment length analysis of the relevant coding region for detection of sequence variant and internal tandem duplication mutations. The SNP genotype at rs34529039 is reported. Testing is performed on plasma for increased sensitivity whenever possible.
CEBPA mutations are detected in 7-15% of AML patients. Double mutations are associated with good prognosis in patients with intermediate risk and normal cytogenetics who do not have FLT3-ITD mutations. The genotype T at SNP rs34529039 has been associated with shorter event-free survival and time-to-relapse in one group of post-stem cell transplant AML patients with intermediate or adverse risk cytogenetics.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
- FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Note: Test is DNA-based. Please select Extract & Hold - DNA if specimen hold service is desired.
Use cold pack for transport. Make sure cold pack is not in direct contact with specimen.
10 days