3 - 10 days
CEBPA Mutation Detection
C/EBP Alpha Mutation Detection
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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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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.