Acute Myelocytic Leukemia (AML) Profile, Chromosome Analysis With Reflex to FLT3, CEBPA, and NPM1

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Test Details

Synonyms

  • AML

Use

Diagnostic and prognostic test for acute myeloid leukemia

Limitations

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.

Methodology

Short-term cell culture; synchronization; chromosome harvest; G-banding; analysis (20 metaphases) and karyotyping; polymerase chain reaction (PCR); capillary electrophoresis; Sanger sequencing

Additional Information

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.

Specimen Requirements

Specimen

Bone marrow, blood (5% to 10% blasts required). See Collection.

Volume

One tube of 5 mL blood (adult); one tube of 3 mL blood (pediatric); or one tube of 1-3 mL bone marrow

Minimum Volume

1 mL blood (adult/pediatric) or 1 mL bone marrow

Container

Green-top (heparin) tube is required for chromosome testing; pediatric Vacutainer® is optimal and lavender-top (EDTA) tube is required for molecular testing.

Collection

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.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Broken Vacutainer®; frozen specimen; clotted blood specimen; quantity not sufficient for analysis

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511972 AML CHROMO RFX FLT3/CEBPA/NPM1 510678 Specimen Type 31208-2
511972 AML CHROMO RFX FLT3/CEBPA/NPM1 510679 Cells Counted 62361-1
511972 AML CHROMO RFX FLT3/CEBPA/NPM1 510680 Cells Analyzed 62360-3
511972 AML CHROMO RFX FLT3/CEBPA/NPM1 510681 Cells Karyotyped 55199-4
511972 AML CHROMO RFX FLT3/CEBPA/NPM1 510682 GTG Band Resolution Achieved 62358-7
511972 AML CHROMO RFX FLT3/CEBPA/NPM1 510683 Cytogenetic Result 62356-1
511972 AML CHROMO RFX FLT3/CEBPA/NPM1 510992 Interpetation 62365-2
511972 AML CHROMO RFX FLT3/CEBPA/NPM1 510993 Director Review: 48672-0
511972 AML CHROMO RFX FLT3/CEBPA/NPM1 511043 Reflex N/A
511972 AML CHROMO RFX FLT3/CEBPA/NPM1 511970 Reflex N/A
511972 AML CHROMO RFX FLT3/CEBPA/NPM1 511968 Reflex N/A
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 910079 FLT3 Inter.Tandem Dup(ITD) PCR 816613 Interpretation 47958-4
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511969 NPM1 Mutation Analysis 511047 NPM1 Mutation Analysis Result: 54448-6
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511969 NPM1 Mutation Analysis 489142 Background: 77202-0
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511969 NPM1 Mutation Analysis 489139 Methodology: 49549-9
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511969 NPM1 Mutation Analysis 489144 References: 75608-0
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511969 NPM1 Mutation Analysis 489145 Director Review: 48672-0
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511967 CEBPA Mutation Analysis 511052 CEBPA Mutation Analysis Result 64012-8
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511967 CEBPA Mutation Analysis 481571 Nucleotide Change: 64012-8
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511967 CEBPA Mutation Analysis 481572 Amino Acid Change: 48005-3
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511967 CEBPA Mutation Analysis 489172 Background: 77202-0
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511967 CEBPA Mutation Analysis 489176 Methodology: 49549-9
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511967 CEBPA Mutation Analysis 489174 References: 75608-0
Reflex Table for Reflex
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 511967 CEBPA Mutation Analysis 489175 Director Review: 72486-4

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CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf