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Acute Myelocytic Leukemia (AML) Profile, Chromosome Analysis With Reflex to FLT3, CEBPA, and NPM1
Diagnostic and prognostic test for acute myeloid leukemia
Molecular mutations not targeted by the probes included in this profile will not be detected.
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
Short-term cell culture; synchronization; chromosome harvest; G-banding; analysis (20 metaphases) and karyotyping; polymerase chain reaction (PCR); capillary electrophoresis; Sanger sequencing
NPM1 (nucleophosmin) mutation is one of the most common recurring genetic lesions in acute myeloid leukemia (AML). This AML type frequently has myelomonocytic or monocytic features and typically presents de novo in older adults with a normal karyotype. Prevalence increases with age, occurring in 2% to 8% of childhood AML and 27% to 35% of adult AML. The most common mutation, insertion at nucleotide position c.863 (exon 11), accounts for 90% to 95% of NPM1 mutations. NPM1 mutations in absence of FLT3-ITD identify a prognostically favorable subgroup.
The CEBPA (CCAAT/enhancer binding protein alpha) gene encodes a transcription factor important for granulocyte differentiation. CEBPA mutations are found in 6% to 15% of de novo acute myeloid leukemia (AML) and in 15% to 18% of AML with normal karyotypes. CEBPA mutations are associated with favorable prognosis in the absence of associated cytogenetic abnormalities and FLT3 internal duplication (FLT-ITD). Germline mutations are a cause of nonsyndromic, familial AML.
The FLT3 ITD mutation is an adverse prognostic marker in patients with cytogenetically normal acute myeloid leukemia. A patient without a detectable FLT3 ITD mutation generally has a more favorable prognosis than patients with a FLT3 ITD mutation. A patient without a detectable FLT3 TKD (tyrosine kinase domain) mutation generally has a more favorable prognosis than patients with a FLT3 TKD mutation.
Bone marrow, blood (5% to 10% blasts required). See Collection.
One tube of 5 mL blood (adult); one tube of 3 mL blood (pediatric); or one tube of 1-3 mL bone marrow
1 mL blood (adult/pediatric) or 1 mL bone marrow
The requirement of 5% to 10% blasts does not apply to cases of CCL, hairy cell leukemia and some cases of SCLL (small cell lymphocytic leukemia) which can be beta-mitogen stimulated. Specimens should arrive in the laboratory within 48 hours of collection.
Indicate date and time of collection on the test request form.
Maintain specimen at room temperature.
Causes for Rejection
Broken Vacutainer®; frozen specimen; clotted blood specimen; quantity not sufficient for analysis