Polymerase Chain Reaction (PCR) followed by sequencing analysis to detect CEBPA mutation if present
Mutations within the CEBPA gene occur in approximately 5-10% of patients with newly diagnosed acute myeloid leukemia (AML), and are most frequent in cases with a normal karyotype. The presence of CEBPA mutations has been associated with a more favorable clinical outcome. Two types of CEBPA mutations are most frequently observed: N-terminal frameshift mutations that lead to truncation of the full-length protein, and C-terminal bZIP domain region mutations that are in-frame insertions or deletions. Both mutation types usually occur simultaneously (double mutations), although up to a third of cases may exhibit only one type (single mutation). This DNA sequencing test will detect single and double mutations within the entire CEBPA coding region from blood or bone marrow specimens. Testing for CEBPA mutations may aid in prediction of clinical outcome.
Interpretive report provided.
The limit of detection of this assay is 40% mutation-bearing cells. Mutations may not be detected in samples with a neoplastic burden below this level.
3 - 10 days
- CEBPA Mutation Detection
- C/EBP Alpha Mutation Detection
Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fixed cytogenetic cell suspensions or pellets in Carnoy’s fixative. Refrigerate and send.
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.